CN102224244A - 正常眼压性青光眼疾病易感性基因及其应用 - Google Patents
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Abstract
本发明提供正常眼压性青光眼疾病易感性基因及其应用方法。以多数正常眼压性青光眼患者和正常人为对象,对全基因组上的单核苷酸多态性进行网罗性分析、比较,在以单核苷酸多态性国际编号rs222450、rs9474394、rs2816344、rs2816341、rs2518579、rs2518578、rs9367511、rs6915699、rs6930045、rs9370188、rs9382180、rs9382181、rs4486010、rs2816379、rs6939730、rs2817088、rs2817090、rs2816372、rs2562895、rs2816364、rs2562893、rs2817101、rs2816362、rs2816356、rs10948744、rs12183976、rs2562898、rs735860、rs715441、rs2057024、rs1429146、rs9463895、rs2235723、rs1346603、rs9474476、rs2294867、rs9349660、rs974323、rs6909592、rs9367520、rs9395854、rs209485、rs9395856、rs7747926、rs7738788、rs209500、rs9357760、rs9370196、rs209512、rs209517、rs9370201、rs9367529、rs 12209741、rs7744451、rs6904083、rs6904376、rs9367532、rs2067833、rs9382212、rs2139077、rs2397146、rs7742367、rs9474576、rs622447、rs3736729、rs13212365和rs761141为代表的、人第6号染色体的包含ELOVL5的区域的多态性位点等上发现了差异。基于这些多态性位点的差异,能够进行正常眼压性青光眼的诊断。
Description
技术领域
本发明涉及正常眼压性青光眼疾病易感性基因及其应用。
背景技术
青光眼是由于眼压升高至能够维持正常视功能的健康眼压以上的眼压而对视神经带来伤害的进行性的难治性疾病。如果任由该疾病继续发展,则视野狭窄会不断加剧,有时会导致失明,尽管目前其在日本的失明原因中占据首位,但其原因尚不明确,还没有准确的诊断方法、有效的治疗方法及预防方法。日本人中最多见的是其中虽然眼压在正常范围内但仍发生青光眼的正常眼压性青光眼(NTG),其发生频率在40岁以上的人群中约为4%。由于NTG的眼压在正常范围内,因此在眼压检查中很难发现,在健康体检或通常的眼科检查中容易疏漏。由于视神经的损伤不会恢复,因此对于NTG,早期发现/早期治疗是最重要的关键。但是,由于其进展缓慢且中心视野在晚期才会受到损害,因此,缺乏自觉症状,视神经损害在本人还未注意到时会逐渐进展。
目前正在进行正常眼压性青光眼疾病易感性基因的探索,但是尚未发现与疾病关联的基因。已经进行了若干候选基因的分析。已经集中精力分别进行了高度疑似与青光眼相关的myocilin(非专利文献1-15)以及optineurin(非专利文献16-30)、optic atrophy 1(非专利文献31-41)基因的分析,但与NTG的相关性还不明确。另外,也进行了候选基因的分析,但仅仅得到相关的启示。
发明内容
本发明的目的在于发现正常眼压性青光眼疾病易感性基因并提供其应用方法。
本发明人以正常眼压性青光眼患者和正常人为对象,对全基因组上的SNP进行了网罗性分析/比较,结果发现,多个基因存在差异。本发明是基于该见解而完成的。
本发明的主旨如下所述。
(1)一种正常眼压性青光眼的检查方法,其中,包括对多态性位点的碱基进行鉴定,所述多态性位点为选自由人第6号染色体的包含ELOVL5的区域、人第2号染色体的包含SRBD1的区域、人第3号染色体的包含ARPP-21的区域、人第4号染色体的包含EPHA5的区域、人第6号染色体的包含GMDS的区域、人第6号染色体的包含6p21.3(包含HSPA1B)的区域、人第6号染色体的包含SYTL3的区域、人第7号染色体的包含NXPH1的区域、人第7号染色体的包含LHFPL3的区域、人第11号染色体的包含GLB1L3的区域、人第18号染色体的包含ZNF407的区域、人第1号染色体的包含PAX7的区域、人第1号染色体的包含PTPRF的区域、人第1号染色体的包含1q12-q21.1(包含CHD1L和/或FMO5)的区域、人第1号染色体的包含1q21.2-q21.3(包含FDPS和/或ASH1L和/或KCNN3)的区域、人第1号染色体的包含FAM5B和/或ASTN1的区域、人第1号染色体的包含PKP1的区域、人第2号染色体的包含KLHL29和/或FLJ14126的区域、人第3号染色体的包含THRB的区域、人第3号染色体的包含MED12L和/或CLRN10S和/或GPR171的区域、人第4号染色体的包含SORBS2的区域、人第5号染色体的包含MAST4的区域、人第5号染色体的包含GLRX和/或C5orf27的区域、人第5号染色体的包含EBF1的区域、人第5号染色体的包含DOCK2的区域、人第6号染色体的包含6p21.31-p21.3(包含HLA-DPA1)的区域、人第6号染色体的包含LOC100132919的区域、人第7号染色体的包含AAA1和/或NPSR1的区域、人第7号染色体的包含ELMO1的区域、人第8号染色体的包含TNKS的区域、人第8号染色体的包含ANGPT1的区域、人第9号染色体的包含PGM5的区域、人第9号染色体的包含TMC1的区域、人第9号染色体的包含ROR2的区域、人第9号染色体的包含PPP6C和/或C9orf126的区域、人第10号染色体的包含GRID1的区域、人第11号染色体的包含11p11.2(包含SPI1和/或SLC39A13和/或PSMC3和/或RAPSN和/或NUP160)的区域、人第11号染色体的包含OR5R1的区域、人第11号染色体的包含MS4A7和/或MS4A14的区域、人第11号染色体的包含MAP6和/或GDPD5和/或SERPINH1的区域、人第11号染色体的包含11q23-24(包含PCSK7和/或RNF214)的区域、人第12号染色体的包含TAOK3的区域、人第12号染色体的包含STX2的区域、人第13号染色体的包含CARS2的区域、人第15号染色体的包含CYP19A1的区域、人第17号染色体的包含CA10的区域、人第18号染色体的包含LOC643542的区域、人第20号染色体的包含PTPRT的区域、人第21号染色体的包含ITSN1的区域、人第2号染色体的包含LRP2的区域、人第11号染色体的包含APIP和/或PDHX的区域、人第12号染色体的包含CUX2的区域、以及人第17号染色体的包含TOM1L1的区域组成的组中的至少一个区域中的至少一个多态性位点。
(2)如(1)所述的检查方法,其中,
人第6号染色体的包含ELOVL5的区域中的多态性位点选自由单核苷酸多态性国际编号rs222450、rs9474394、rs2816344、rs2816341、rs2518579、rs2518578、rs9367511、rs6915699、rs6930045、rs9370188、rs9382180、rs9382181、rs4486010、rs2816379、rs6939730、rs2817088、rs2817090、rs2816372、rs2562895、rs2816364、rs2562893、rs2817101、rs2816362、rs2816356、rs10948744、rs12183976、rs2562898、rs735860、rs715441、rs2057024、rs1429146、rs9463895、rs2235723、rs1346603、rs9474476、rs2294867、rs9349660、rs974323、rs6909592、rs9367520、rs9395854、rs209485、rs9395856、rs7747926、rs7738788、rs209500、rs9357760、rs9370196、rs209512、rs209517、rs9370201、rs9367529、rs12209741、rs7744451、rs6904083、rs6904376、rs9367532、rs2067833、rs9382212、rs2139077、rs2397146、rs7742367、rs9474576、rs622447、rs3736729、rs13212365和rs761141组成的组,
人第2号染色体的包含SRBD1的区域中的多态性位点选自由单核苷酸多态性国际编号rs11686431、rs7580559、rs3908093、rs2343412、rs12623996、rs7573149、rs918810、rs6721199、rs7579209、rs10194925、rs17033378、rs2343466、rs17033398、rs6737172、rs4953226、rs3851333、rs12473388、rs11681887、rs35608719、rs11888802、rs11678872、rs2343468、rs13003019、rs6760244、rs12471726、rs2081297、rs10460504、rs7562458、rs4953230、rs4952763、rs6719211、rs1014454、rs3755070、rs3213787、rs10210691、rs3770251、rs4455206、rs3755076、rs3770254、rs11125017、rs3770264、rs10205197、rs10427308、rs17033745、rs3770278、rs17322370、rs6736954、rs10427402、rs4476395、rs13023749、rs17033801、rs755652、rs748573、rs6708810、rs6710581、rs12712945、rs17033871、rs3755082、rs6544840、rs7599740、rs11884064、rs7596942、rs7565326、rs17323037、rs1916231、rs1517001、rs1522988、rs614281、rs582213、rs650508、rs666334、rs17033965、rs556650、rs2204204、rs3795863、rs2285024、rs505310、rs10490342、rs612717、rs10490341、rs656823、rs563601、rs609573、rs6746467、rs637889、rs10495926、rs1522986、rs1522987、rs6544843和rs6724488组成的组,
人第3号染色体的包含ARPP-21的区域中的多态性位点选自由单核苷酸多态性国际编号rs1523048、rs1523029、rs12487524、rs1403468、rs872133、rs1523040、rs1523041、rs13069451、rs12629480、rs1357449、rs6801949、rs17033355、rs9873254、rs9839823、rs6794354、rs6794373、rs12637211、rs9855328、rs2037538、rs2037539、rs1523038、rs11718271、rs1608314、rs2197728、rs9311101、rs10490870、rs17033506、rs12634096、rs2359774、rs9860326、rs4678788、rs3213953、rs6799641、rs17201627、rs4678789、rs12632607、rs11129660、rs11129662、rs17033672、rs17280201、rs6779091、rs3772395、rs9872664、rs1963934、rs35102908、rs4678802、rs4678803、rs6550367、rs17033738、rs6801590、rs17033748、rs9865772、rs17033755、rs17228111、rs2016955、rs2016975、rs735353、rs11920715、rs1378481、rs17814981、rs1455489、rs4678509、rs10510667、rs6799649、rs6799609、rs17033836、rs4234248、rs6770245、rs10865865、rs7615307、rs9845811、rs17033961、rs1488092、rs10461001和rs17033999组成的组,
人第4号染色体的包含EPHA5的区域中的多态性位点选自由单核苷酸多态性国际编号rs371925、rs4241661、rs170654、rs1514271、rs2063419、rs13102419、rs11131589、rs2167320、rs1159057、rs12501311、rs17086016、rs961489、rs7684130、rs3749526、rs4860651、rs11938753、rs1376417、rs10025570、rs1376416、rs2084682、rs7658065、rs9312144、rs1376412、rs17086181、rs17086185、rs6847413、rs2198103、rs12509018、rs17082122、rs6823779、rs17086224、rs1451170、rs4289492、rs4371663、rs9986026、rs9991256、rs4267782、rs7660334、rs6815080、rs11737314、rs4365778、rs7673091、rs4320185、rs4604104、rs7684022、rs4860679、rs6844942、rs12644315、rs4599467、rs6834811、rs4320186、rs4487412、rs7667410、rs4611975、rs4370201、rs4438803和rs4608860组成的组,
人第6号染色体的包含GMDS的区域中的多态性位点选自由单核苷酸多态性国际编号rs11966212、rs2143396、rs6911992、rs9378593、rs9392253、rs9378594、rs2050158、rs9391900、rs6596786、rs2235706、rs9378596、rs1997773、rs6926322、rs7754106、rs7750178、rs742520、rs2210370、rs6940618、rs349100、rs9405444、rs6932005、rs4959523、rs10484953、rs464778、rs115705、rs1013185、rs11242672、rs463641、rs4959525、rs369656、rs459162、rs127091、rs4959530、rs463264、rs7757477、rs448915、rs444018、rs443971、rs9391913、rs238048、rs238050、rs9378605、rs2459602、rs2438074、rs12191625、rs2438077、rs2496292、rs2496301、rs2438083、rs977674、rs977673、rs17259747、rs1437288、rs7772349、rs6596805、rs1347656、rs6925983、rs1550199、rs11242676、rs7744559、rs11966550、rs9378290、rs9405136、rs9405470、rs9392285、rs9405137、rs9405471、rs746095、rs9378623、rs9378292、rs1711957、rs7742720、rs9378629、rs7741690、rs9328052、rs9328053、rs1922938、rs2745636、rs2816242、rs932410、rs1474721、rs9392296、rs9502950、rs6907725、rs9405484、rs4443540、rs4355648、rs9328058、rs9328059、rs2569866、rs6935712、rs6935896、rs6937266、rs6925228、rs11242704、rs2816286、rs2816287、rs6596833、rs2317965、rs2873591、rs2569835、rs2745567、rs2493160、rs2317966、rs9392305、rs9501738、rs2569839、rs9328061、rs9378300、rs2816221、rs6916316、rs2281272、rs2569824、rs9405496、rs1810496、rs2814827、rs7759035、rs9502997、rs2814811、rs2317964、rs9378304、rs2569854、rs12206340、rs4538755、rs9378305、rs9503011、rs9405505、rs9503015、rs9501762、rs9405506、rs12197419、rs7765344、rs7765461、rs1013303、rs3800046、rs689035、rs2318108、rs6919059、rs6928276、rs226456、rs9378314、rs1157673、rs1157675、rs9391933、rs9328071、rs3778533、rs1028714、rs3800094、rs3778539、rs6596857、rs7776397、rs6596858、rs9378661、rs3823279、rs3800122、rs10484693、rs17772389、rs4959160、rs3778555、rs4463305、rs3800140、rs17134506、rs3800142、rs3800143、rs3800144、rs3800146、rs2761234、rs9405156、rs17134549、rs1408002、rs1830733、rs1830734、rs10223785、rs9405157、rs7772545、rs6596866、rs4959621、rs4412249、rs4367413、rs11242729、rs6925298、rs12212324、rs9392353、rs11242730、rs4580917、rs6910252、rs11242733、rs9503080、rs11242735、rs476594、rs9378676、rs676015、rs2026446、rs4959631、rs17134693、rs3800156、rs11242740、rs4959635、rs3800159、rs3778557、rs3800168、rs4959642、rs234930、rs9392372、rs234915、rs234914、rs3800184、rs234932、rs6903476、rs3778568、rs9405550、rs17134819、rs3823287、rs1196396、rs1684153、rs9328087、rs2479003、rs2479004、rs2505678、rs2479008、rs2505674、rs7766115、rs4959648、rs4413658、rs7449538、rs9503158、rs6902556、rs6925653、rs4281006、rs12210286、rs12213061、rs4959663、rs9501836、rs6911665、rs13200914、rs17135028、rs4959184、rs11242770、rs9328099、rs12206851、rs6904395、rs17609498、rs742487、rs4959185、rs9391949、rs9391950、rs6899721、rs1610416、rs3924452、rs10458144、rs9501850、rs9503199、rs4959677、rs35374935、rs2449448、rs1772982、rs1680885、rs2794569、rs2624936、rs12196957、rs2624933、rs1773000、rs1773001、rs1614248、rs1616044、rs2624917、rs2624916和rs6899711组成的组,
人第6号染色体的包含6p21.3(包含HSPA1B)的区域中的多态性位点选自由单核苷酸多态性国际编号rs2248373、rs2248459、rs2248462、rs2248617、rs3749946、rs2523650、rs2904776、rs2516422、rs2905747、rs9267247、rs2395034、rs3095229、rs3131631、rs2516486、rs2734573、rs3115537、rs2516478、rs2071593、rs3219183、rs13215091、rs1799964、rs1052248、rs9348876、rs2857697、rs2736172、rs1046089、rs2255741、rs760293、rs2077102、rs3130048、rs2844463、rs805301、rs805300、rs805297、rs707921、rs2242655、rs707974、rs805268、rs805267、rs9378164、rs707918、rs805292、rs2299851、rs707939、rs707937、rs480092、rs2075800、rs2763979、rs11965547、rs486416、rs644045、rs537160、rs2072633、rs522162、rs550513、rs9296003、rs406936和rs492899组成的组,
人第6号染色体的包含SYTL3的区域中的多态性位点选自由单核苷酸多态性国际编号rs602698、rs678116、rs649930、rs643677、rs592698、rs675053、rs612557、rs629364、rs627967、rs628203、rs2771425、rs9355655、rs10499309、rs1041566、rs12530454、rs7753885、rs9347236、rs6455585、rs6931414、rs10447366、rs9457403、rs9355246、rs4709219、rs4708797、rs4709226、rs4709235、rs6925091、rs3799195、rs6913912、rs894124、rs6903405、rs6901469、rs9364496、rs7759006、rs6455600、rs2129209、rs6455601、rs9456350、rs3123094、rs9456352、rs3102970、rs6455604、rs3127188、rs3127194、rs3127196、rs3102966、rs3127168、rs923198、rs6924755、rs2361472、rs4569991、rs9457516、rs9456363、rs9365009、rs3923902和rs12207795组成的组,
人第7号染色体的包含NXPH1的区域中的多态性位点选自由单核苷酸多态性国际编号rs3807826、rs7802863、rs3757521、rs3757520、rs3807823、rs1861032、rs17145870、rs7805508、rs6977682、rs3807815、rs1008038、rs3807811、rs11769978、rs3779356、rs3807807、rs3807806、rs7455929、rs6463790、rs4620183、rs12668479、rs17147407、rs11762595、rs12702719、rs17147608、rs12154895、rs17403198、rs16873367、rs42949、rs2349188、rs6463805、rs7811039、rs10247446、rs10270530、rs7795595、rs6945018、rs17148966、rs1476623、rs10246412、rs17404198、rs6463813、rs17149337、rs17404218、rs11976158、rs10244689、rs6978212、rs757704、rs2214694、rs2189904、rs765855、rs17150199、rs10261060、rs4401754、rs 10266489、rs5018942、rs4556000、rs 10278603、rs7787432、rs6959052、rs17150410、rs17150472、rs17150479、rs17150761、rs10237485、rs4720785、rs972247、rs1859274、rs10238726、rs6970999、rs17151821、rs7456267、rs6963180、rs10257265、rs970526、rs977458、rs13240427和rs17154007、以及NCBI(v36.1)8484291组成的组,
人第7号染色体的包含LHFPL3的区域中的多态性位点选自由单核苷酸多态性国际编号rs41521、rs2188486、rs977641、rs17389507、rs10274138、rs17136882、rs13234807、rs7794181、rs7787988、rs7787976、rs17331134、rs1557689、rs6465984、rs7798273、rs2188494、rs1468143、rs10953427、rs2214087、rs4730006、rs6952170、rs17137313、rs4727599、rs17137382、rs10228106、rs42181、rs4730010、rs11763758、rs17137711、rs11763095、rs6977743、rs4520098、rs10216261、rs11972050、rs12539136、rs756669、rs41037、rs41038、rs28253、rs41058、rs9649272、rs6949801、rs9987005、rs6465994、rs6465995、rs1477110、rs12216618、rs10254402、rs6969323、rs9641335、rs10272959、rs3919550、rs4730030、rs10246540、rs4730031、rs2891730、rs995661、rs10487221、rs10487222、rs11773248、rs11983223、rs6943307、rs7782065、rs7801387、rs12705261、rs12531723、rs17269890、rs4730038、rs4584085、rs10216010、rs17141284、rs17141299、rs10953450、rs6466018、rs4530975、rs12705276、rs4283980和rs2470965、以及NCBI(v36.1)103849313、104068646和104196627组成的组,
人第11号染色体的包含GLB1L3的区域中的多态性位点选自由单核苷酸多态性国际编号rs11223704、rs470713、rs470935、rs641024、rs11606866、rs7131644、rs10894784、rs1031381、rs522134、rs4362160、rs473041、rs498602、rs554874、rs1144225、rs1595895、rs1146192、rs4936229、rs1144219、rs2510356、rs553231、rs512359、rs568044、rs10894798、rs10894799、rs11223765、rs10894800、rs7940114、rs10894801、rs10791357、rs3741100、rs3741098、rs7113199、rs1866769、rs1866768和rs1561613组成的组,
人第18号染色体的包含ZNF407的区域中的多态性位点选自由单核苷酸多态性国际编号rs3794941、rs17055278、rs514931、rs494721、rs17055426、rs2896769、rs12717033、rs7227977、rs10871527、rs10514139、rs17832851、rs17055756、rs1473224、rs2628125、rs8085262、rs8089151、rs2628123、rs4891199、rs17055919、rs10514148、rs17055185、rs2404482、rs10514149、rs4337381、rs2959165、rs12456768、rs4891217、rs9945585、rs9961644、rs9961742、rs9952375、rs13381156、rs9319675、rs2120144、rs8096648、rs17056218、rs2289609、rs4891228、rs1396098、rs894575、rs10871567、rs7242893和rs7239800组成的组,
人第1号染色体的包含PAX7的区域中的多态性位点选自由单核苷酸多态性国际编号rs3000058、rs2816030、rs16862061、rs2816040、rs2816046、rs4920334、rs4920516、rs4920335、rs2816064、rs6704504、rs1934057、rs2298893、rs2743208、rs2076021、rs2076020、rs2236826、rs2282704、rs2282699、rs624761、rs851123、rs2236817、rs685300、rs2056446、rs2841078、rs4920344、rs6669544、rs4076925、rs6603910、rs11261070、rs7539659、rs11261074、rs7411058、rs4920545、rs6684577和rs12565195组成的组,
人第1号染色体的包含PTPRF的区域中的多态性位点选自由单核苷酸多态性国际编号rs2494997、rs1999674、rs2842180、rs2255632、rs2251804、rs1334973、rs6687571、rs2039528、rs2819341、rs10890251、rs2367617、rs11210864、rs2782641、rs11210871、rs10890257、rs12058744、rs11210879、rs11210886、rs516790、rs641365、rs673485、rs643445、rs10789438、rs11210892、rs617521、rs660899、rs2274465、rs10789439、rs489319、rs607062、rs10789442和rs3791035、以及NCBI(v36.1)43760103组成的组,
人第1号染色体的包含1q12-q21.1(包含CHD1L和/或FMO5)的区域中的多态性位点选自由单核苷酸多态性国际编号rs2355388、rs6686200、rs12122453、rs12122534、rs4950474、rs4950475、rs6593810、rs6657631、rs21327、rs517201、rs575115、rs2031481、rs2477568、rs2477569、rs692963、rs535827、rs4950361、rs6593732、rs17359526、rs6693631、rs11811023、rs4950371、rs2304893、rs6593739、rs7525703、rs2883434、rs2077749、rs17159914、rs6593745、rs2120003、rs10900325、rs2354432、rs6670503、rs1470261、rs6703187、rs10793652、rs7537483、rs7537703、rs1890038、rs3820130、rs3737845、rs17160062、rs3766525、rs4950315、rs17356240、rs10494244、rs6683839、rs10793656、rs17360443、rs3753433、rs12033407、rs7554833、rs10793661、rs10736837、rs10900336、rs7520661、rs4950409、rs2353983、rs6658836、rs17360812、rs6656156、rs12759145、rs12049491、rs10793682、rs4950431、rs7539416、rs2353969、rs4504949、rs17160205、rs2353967、rs12728058、rs6688308、rs11589438、rs6688154、rs6678706、rs4950436、rs7519891、rs11240053、rs11240054、rs11240055、rs7556087、rs7518276、rs2644579、rs2353951、rs2644577、rs6674761、rs2644566、rs2803535、rs17160256、rs12406844、rs17160264、rs612963、rs586000、rs17160295、rs644550和rs17160305组成的组,
人第1号染色体的包含1q21.2-q21.3(包含FDPS和/或ASH1L和/或KCNN3)的区域中的多态性位点选自由单核苷酸多态性国际编号rs10752613、rs11583896、rs16835600、rs4434872、rs4567311、rs4363451、rs9427232、rs4845576、rs4520447、rs4845578、rs11585416、rs4845584、rs12033835、rs11581644、rs10908557、rs6701341、rs2297898、rs12048137、rs11264875、rs2066134、rs2494663、rs6671166、rs4845600、rs16835819、rs4521985、rs4620534、rs9803857、rs11265310、rs2340473、rs1194596、rs1212352、rs6672010、rs6702754、rs2274988、rs2297607、rs4414034、rs6696089、rs11265607、rs6427631、rs6427658、rs6694817、rs4537545、rs4845626、rs11265618、rs10752641、rs4240872、rs4474240、rs6700296、rs11265627、rs6691727、rs6687112、rs6427716、rs12136771、rs7553602、rs6660775、rs1127314、rs1127313、rs2131902、rs2229857、rs3766923、rs3766922、rs12125166、rs2335230、rs7531982、rs7533471、rs11264233、rs10796927、rs2335252、rs2036627、rs6699979、rs1995662、rs6664817、rs11264249、rs6426905、rs960182、rs16836320、rs868108、rs4845390、rs10494300、rs1051614、rs6666341、rs11808053、rs883319、rs1777910、rs951240v、rs951241、rs9970364、rs1984285、rs6681725、rs16836414、rs10796934、rs10908445、rs4845678、rs4845679、rs4845681、rs12130132、rs10908448、rs4845690、rs4845406、rs10908455、rs7368345、rs10908456、rs4971079、rs4276913、rs11264339、rs3768566、rs11264345、rs7520184、rs12032720、rs11264359、rs11264363、rs5005770、rs1325908、rs11264375、rs475550、rs821551、rs822490、rs822519、rs822508、rs1749405、rs1749409、rs572609、rs3768280、rs2275078、rs2016251、rs1475766、rs12035615、rs4661146、rs6700693、rs10908489、rs11264449、rs2253677、rs2241110、rs2853641、rs2075163、rs2241107、rs1052053、rs1052067、rs759330、rs7542798、rs2253358、rs2842880、rs16837272、rs2287023、rs2246476、rs2248273、rs11264467、rs7522860、rs10908500、rs10494304、rs3795730、rs3762281、rs35478936、rs2274226、rs2985714、rs2842854、rs954916、rs6686886、rs11590409、rs4661040、rs7551781、rs16837376、rs11806983、rs1109751、rs11264486、rs3790458、rs1342442、rs12136856、rs10159180、rs1171564、rs1609666、rs728918、rs11264495、rs744224、rs4661184、rs879461、rs12742817、rs3795736、rs2236601、rs1046650和rs3795737组成的组,
人第1号染色体的包含FAM5B和/或ASTN1的区域中的多态性位点选自由单核苷酸多态性国际编号rs7521610、rs16850728、rs227521、rs227519、rs10047146、rs10489307、rs972484、rs1402640、rs10913291、rs12094495、rs10798503、rs6425414、rs7515582、rs10913294、rs7534953、rs10913295、rs725416、rs12090000、rs12564343、rs12031932、rs12079554、rs554454、rs6660903、rs10913300、rs760689、rs6683060、rs926319、rs6699955、rs10798508、rs2139876、rs16851037、rs17315298、rs2861972、rs1883243、rs6660559、rs4652245、rs4140633、rs7528533、rs3946142、rs6658794、rs9425456、rs6672376、和rs12025407组成的组,
人第1号染色体的包含PKP1的区域中的多态性位点选自由单核苷酸多态性国际编号rs1122396、rs1722755、rs6413916、rs831771、rs1404401、rs831767、rs16847944、rs831765、rs16847947、rs831764、rs16847951、rs831762、rs831753、rs16847994、rs831751、rs4915220、rs10157719、rs947379、rs12466、rs1592085、rs4915499、rs12134467、rs10158798、rs1954214、rs12046907、rs10920161、rs12117501、rs1997018、rs1880450、rs1857489、rs16848184、rs868381、rs854488、rs832169、rs832174、rs700469、rs860554、rs1779301、rs2300293、rs2268156、rs832147、rs854502、rs1722780、rs1779293、rs854505、rs1572968、rs17425876、rs12143423、rs947377、rs10753899、rs17459837、rs6427900、rs1122481、rs2275862、rs11806184、rs2365652、rs2275860、rs947485、rs6671391、rs1256941、rs10800779、rs7553988、rs10920205、rs3887566、rs3888929、rs6427908和rs12090950组成的组,
人第2号染色体的包含KLHL29和/或FLJ14126的区域中的多态性位点选自由单核苷酸多态性国际编号rs2577720、rs2723120、rs10495742、rs2577717、rs6720565、rs12053097、rs12613333、rs7566157、rs17045229、rs875077、rs17045238、rs2723129、rs2577698、rs2954818、rs12989910、rs11125011、rs6742888、rs7564616、rs2723111、rs6544822、rs893430、rs737564、rs737565、rs747344、rs6727901、rs7570872、rs17045350、rs6544861、rs6756357、rs4665214、rs10172684、rs1653748、rs1465677、rs1864807、rs1864808、rs4665218、rs10169643、rs1368080、rs10490750、rs11677730、rs7601971、rs1653751、rs1653753、rs1368081、rs11678782、rs11678785、rs4497835、rs 1653780、rs17445645、rs4665223、rs4284788、rs4665612、rs1709339、rs6544949rs17045574、rs6544966、rs4665230、rs583168、rs17045705、rs2280122、rs1548020、rs518113、rs497973、rs3806510、rs13386930、rs6721623、rs3795933、rs7560892、rs4233701、rs9261、rs7579413、rs12470949、rs12478701、rs2081302、rs12478744、rs2339853和rs35379186组成的组,
人第3号染色体的包含THRB的区域中的多态性位点选自由单核苷酸多态性国际编号rs1397878、rs6765461、rs6801153、rs1464010、rs7630879、rs6550848、rs826375、rs1667765、rs826378、rs6808673、rs2596623、rs17194828、rs1562736、rs9310730、rs2683535、rs7652337、rs7652444、rs2683542、rs1667739、rs1505302、rs6799431、rs17014338、rs826249、rs10510540、rs6772213、rs851719、rs6792783、rs1354605、rs866651、rs958892、rs826225、rs6550853、rs826223、rs826218、rs1466122、rs1449874、rs11719336、rs7625917、rs17787283、rs4858594、rs1449872、rs9849581、rs9863517、rs9843698、rs9867989、rs1667746、rs17787319、rs1505307、rs7640580、rs12639035、rs9810037、rs9833191、rs12630454、rs3951794、rs6781111、rs1505287、rs12495379、rs4858608、rs7624363、rs4640503、rs6550865、rs9839986、rs5014281、rs9831450、rs4241527、rs4858617、rs4858618、rs2196427、rs10490840、rs6788339、rs6765048和rs892941组成的组,
人第3号染色体的包含MED12L和/或CLRN10S和/或GPR171的区域中的多态性位点选自由单核苷酸多态性国际编号rs13088412、rs9837084、rs744876、rs571170、rs358954、rs9833515、rs6440716、rs358967、rs1993404、rs9883677、rs2048229、rs16863149、rs891666、rs1835668、rs6787683、rs16863204、rs16863208、rs16863229、rs3732755、rs3773614、rs1231521、rs3108727、rs3773619、rs7649855、rs16863264、rs2870518、rs3846072、rs6782715、rs1882014、rs16863287、rs10513391、rs3773621、rs10935835、rs9863821、rs9864095、rs1873619、rs7623356、rs1491981、rs6440735、rs3971192、rs7644001、rs16863323、rs6801273、rs9820422、rs16863336、rs1388622、rs3975404、rs10513394、rs6787801、rs9289836、rs3821663、rs7429509、rs3821664、rs1491974、rs9653953、rs17204501、rs17204508、rs4680406、rs12490051、rs16863364、rs11708767、rs11709550、rs3732769、rs10935844、rs2276765、rs2276766、rs16863376、rs6440741、rs6771904、rs6772196、rs3732771、rs9864533、rs4435614、rs17204557、rs6798252、rs4680440、rs4680443、rs13088575、rs6790903、rs9289840、rs4680474、rs4541381、rs4596123和rs7612205、以及NCBI(v36.1)152200518、152229595、152456055和152609183组成的组,
人第4号染色体的包含SORBS2的区域中的多态性位点选自由单核苷酸多态性国际编号rs10866277、rs12645545、rs12649063、rs7437897、rs11132327、rs10866278、rs6823490、rs6843640、rs6818789、rs2101307、rs6552895、rs6552896、rs6552897、rs12498673、rs10025265、rs2306707、rs3749579、rs6848934、rs2306703、rs11934819、rs4862558、rs4599460、rs4862559、rs6823546、rs11132334、rs5018568、rs904451、rs7677363、rs2030144、rs11132338、rs11132340、rs7669883、rs6858544、rs1027521、rs2173480、rs2173479、rs11132344、rs10084919、rs7677532、rs6835720、rs10024805、rs6834923、rs6812818、rs10015164、rs11132345、rs10024359、rs10000785、rs1039235、rs2310357、rs10028428、rs4862571、rs7684943、rs10021308、rs1566347、rs12504307、rs11132355、rs10028944、rs1499010、rs11724690、rs11940307、rs1566354、rs2648126、rs2648120、rs2648117、rs2648112、rs4861686、rs1026362、rs12643549、rs2310372、rs4862588、rs10031442、rs4637445、rs1947455、rs2278938、rs12641600、rs4862600、rs10002339、rs7694098、rs830829、rs830838、rs830841、rs2603731rs7697039、rs7697051、rs1356672、rs7679967、rs4861696、rs1519320和rs12643213组成的组,
人第5号染色体的包含MAST4的区域中的多态性位点选自由单核苷酸多态性国际编号rs7733618、rs12514219、rs4532318、rs6861487、rs7700850、rs4587034、rs7705086、rs16895307、rs16895308、rs6890124、rs4339298、rs4613646、rs6862416、rs4532319、rs10515011、rs16895357、rs7732647、rs4355471、rs4554157、rs12055346、rs16895417、rs17210621、rs7706654、rs6864239、rs6896102、rs4374700、rs16895456、rs6880657、rs6863239、rs16895458、rs11953193、rs10940078、rs4446417、rs9791090、rs33721、rs33728、rs2548712、rs33696、rs257711、rs33724、rs26384、rs7704890、rs7725568、rs30729、rs26383、rs27637、rs26382、rs9918275、rs258082、rs257699、rs257700、rs16895719、rs30731、rs16895744、rs1835136、rs36157、rs36155、rs544158、rs36144、rs36143、rs26923、rs16895768、rs463219、rs16895790、rs26921、rs192295、rs26929、rs26928、rs461702、rs460844、rs455938、rs464881、rs456775、rs154620、rs17217092、rs154618、rs10056426、rs152407、rs37568、rs734828、rs2280174、rs16896071、rs40206、rs706701、rs17218390、rs6863305、rs39664、rs34691、rs34693、rs10044452、rs34698、rs34699、rs4016246、rs1159201、rs2662227、rs27206、rs469300、rs467845、rs2545396、rs16896246、rs16896295、rs17221226、rs2287929和rs16896325、以及NCBI(v36.1)65944399组成的组,
人第5号染色体的包含GLRX和/或C5orf27的区域中的多态性位点选自由单核苷酸多态性国际编号rs34896、rs34897、rs3777220、rs3777217、rs11738579、rs3777213、rs7736948、rs6556883、rs9314160、rs6876015、rs11135436、rs17085165、rs17085170、rs10040697、rs6884979、rs7702848、rs2080947、rs10476660、rs154454、rs147295、rs17085249、rs11741590、rs3777194、rs2270554、rs3777190、rs3777188和rs4642392、以及NCBI(v36.1)95206085组成的组,
人第5号染色体的包含EBF1的区域中的多态性位点选自由单核苷酸多态性国际编号rs2913384、rs173423、rs244654、rs824854、rs824848、rs1095103、rs403334、rs10515769、rs2112262、rs33196、rs17056089、rs2042875、rs3843489、rs1541649、rs17056186、rs2116727、rs10067813、rs7709065、rs17056205、rs1368298、rs4704963、rs10070743、rs4704967、rs10056564、rs6875710、rs17643057、rs6883655、rs891903、rs10054046、rs6556373、rs4921537、rs6556377、rs13180086、rs6556379、rs6556381、rs1544754、rs883540、rs17056426、rs17056435、rs1363561、rs9313797、rs1422672、rs17056474、rs17717829、rs10515787、rs10515786、rs10515789、rs9637861、rs7442845、rs 12659540、rs3862065和rs270661组成的组,
人第5号染色体的包含DOCK2的区域中的多态性位点选自由单核苷酸多态性国际编号rs4493692、rs3797712、rs3797713、rs264881、rs36101422、rs264834、rs6879467、rs6883997、rs7721990、rs7713640、rs900464、rs264846、rs2161404、rs2306560、rs3816764、rs11134586、rs12515906、rs264844、rs2279318、rs264843、rs10063658、rs4867879、rs17736846、rs264838、rs12658902、rs2306558、rs262865、rs262840、rs262841、rs262842、rs155239、rs262848、rs262851、rs4867572、rs262852、rs746468、rs90213、rs17051884、rs262860、rs262859、rs10076580、rs6875474、rs185532、rs17669613、rs1013193、rs17669636、rs966595、rs17669654、rs13171272、rs261612、rs13163565、rs17737323、rs155074、rs261016、rs261597、rs166368、rs261633、rs10054135、rs261624、rs261625、rs17560224、rs4867895、rs168678、rs30080、rs30083、rs17670092、rs7717087、rs17737597、rs7729471、rs261039、rs261038、rs1482333、rs2291229、rs261021、rs261076、rs12515095、rs17646198、rs17560405、rs261067、rs261060、rs261006、rs261008、rs11740615、rs11741667、rs155023、rs 11742527、rs978914、rs 12522080、rs2624252、rs6896240、rs6862278、rs3860755、rs259897、rs259899、rs259900、rs259902、rs259903、rs6895199、rs259916、rs12659898、rs1422695、rs17738158、rs17561105、rs11134600、rs6893165、rs2161366、rs9313476、rs17738326、rs2287727、rs17738444、rs6884677、rs13152920、rs9790867、rs11134603、rs17738530、rs2134151、rs12055169、rs17738584、rs1316638、rs17072023、rs13361200、rs17738710、rs10462994、rs10462995、rs6890267、rs6871764、rs17671355、rs6555884、rs17562083、rs10516070和rs955078组成的组,
人第6号染色体的包含6p21.31-p21.3(包含HLA-DPA1)的区域中的多态性位点选自由单核苷酸多态性国际编号rs1044043、rs10484565、rs241438、rs1800454、rs241429、rs241427、rs4711312、rs2071482、rs4148882、rs12529313、rs9276815、rs20547、rs9276825、rs9276832、rs241404、rs241403、rs3101942、rs241400、rs3132132、rs151719、rs1050391、rs9378127、rs188245、rs3129305、rs176248、rs12216336、rs2894311、rs12191230、rs2395301、rs12192713、rs12199692、rs1044429、rs592625、rs399604、rs365066、rs3763341、rs4713603、rs4713604、rs6936620、rs2116264、rs1367731、rs439852、rs446853、rs9296069、rs440841、rs3128952、rs3130180、rs3097662、rs3128955、rs3130588、rs9277183、rs3097669、rs9277194、rs376877、rs6457710、rs3077、rs9348904、rs9296073、rs2856816、rs3135021、rs1431403、rs9277542、rs3128963、rs3128965、rs3128966、rs3117229、rs2068204、rs2179920、rs2295120、rs3117242、rs3128921、rs3128923、rs9296079、rs3117230、rs3128930、rs872956、rs9380343、rs6937034、rs6937061、rs9277637、rs3117039、rs3130233、rs3117016、rs2395351、rs3116985、rs3129249、rs3129248、rs1003979、rs2071025、rs2855459、rs439205、rs213208、rs461338、rs458679、rs455567、rs14398、rs3130267、rs3130014、rs211455、rs211453、rs10807124、rs411136、rs2772376、rs7747216、rs9469491、rs17627049、rs210137、rs9296095、rs210138、rs444697、rs1794681、rs9469529、rs4711332、rs12205634、rs1408711、rs1536041、rs2229637、rs10947427、rs3818527、rs3818528、rs3818530、rs4713659、rs594223、rs7759668、rs626156、rs498114、rs654682、rs16869412、rs10947432、rs3818532、rs9394163、rs12203688、rs4713670、rs4713671、rs622917、rs12189725、rs877187、rs4713674、rs4713677、rs943466、rs943467、rs755495、rs747692、rs943475、rs6929696、rs3806108、rs3828783、rs3763253、rs9366829、rs9394169、rs4713686和rs10947441组成的组,
人第6号染色体的包含LOC100132919的区域中的多态性位点选自由单核苷酸多态性国际编号rs1338657、rs9485685、rs9377361、rs9377365、rs9377366、rs9322660、rs9322661、rs2399802、rs17063309、rs680011、rs9499111、rs9404214、rs1569366、rs1569367、rs17443301、rs17063399、rs6906578和rs7740643、以及NCBI(v36.1)102984444组成的组,
人第7号染色体的包含AAA1和/或NPSR1的区域中的多态性位点选自由单核苷酸多态性国际编号rs1156490、rs6462540、rs1419842、rs2392267、rs1419803、rs1419805、rs1419809、rs6977125、rs17169769、rs17169771、rs7778512、rs1419840、rs35114106、rs1019089、rs16878925、rs1362172、rs2392270、rs17831435、rs10951417、rs1468559、rs10486643、rs6951496、rs7458608、rs2893480、rs4723375、rs1419863、rs1419864、rs9639694、rs9639695、rs10951418、rs10215667、rs6971556、rs12673387、rs4723377、rs6950303、rs1034876、rs17169864、rs17169865、rs16878959、rs12672624、rs10486649、rs2893482、rs12672538、rs10486650、rs2392274、rs2079509、rs10243426、rs2097960、rs1362173、rs1458549、rs450463、rs1023555、rs1023556、rs2530548、rs2530549、rs2530550、rs1419794、rs2530565、rs1458544、rs2609226、rs9792042、rs2530567、rs2609218、rs323925、rs323912、rs10239860、rs1419791、rs17777040、rs17198254、rs17777663、rs17777675、rs17198982、rs17788843、rs324978、rs324981、rs324983、rs1419780、rs325464、rs17199659、rs17789420、rs17789642、rs17170015、rs17200455、rs10263313、rs17790181和rs11768189组成的组,
人第7号染色体的包含ELMO1的区域中的多态性位点选自由单核苷酸多态性国际编号rs10277512、rs4720221、rs7787226、rs10951500、rs10274668、rs10255208、rs2006882、rs2392472、rs756507、rs2241152、rs7785934、rs7782979、rs17170754、rs3807162、rs3734948、rs741302、rs2041801、rs6966276、rs4723592、rs11769038、rs4723598、rs1882080、rs4723601、rs11982286、rs1986619、rs1882082、rs10268319、rs17170799、rs6957979、rs10225164、rs2293628、rs999744、rs17170820、rs17170826、rs17170830、rs1364373、rs13233995、rs6971267、rs7809487、rs1035582、rs2541103、rs2541074、rs2541075、rs2551069、rs1420421、rs6958656、rs10257460、rs12666532、rs1420422、rs17170915、rs10224438、rs7809365、rs6963276、rs6967358、rs6967403、rs10279544、rs4723619、rs17170955、rs2723969、rs6944921、rs6462746、rs1016321、rs2541082、rs4723631、rs2541089、rs2717975、rs10238916、rs2723952、rs12534004、rs2893540、rs2724006、rs2717983、rs2717990、rs2701004、rs2724007、rs2717992、rs2723996、rs9655380、rs2701003、rs2717993、rs2724003、rs2723980、rs2723990、rs2717948、rs2700992、rs6462758、rs2724014、rs2724016、rs1882079、rs2717954、rs13247953、rs2392495、rs10233634、rs12532031、rs4720246、rs7782999、rs1425124、rs1647801、rs2052688、rs2052687、rs10282309、rs10239693、rs17261508、rs10267165、rs918979、rs7777258、rs11767227、rs1647791、rs1732001、rs17171045、rs9655382和rs6952260、以及NCBI(v36.1)37495022组成的组,
人第8号染色体的包含TNKS的区域中的多态性位点选自由单核苷酸多态性国际编号rs12680471、rs2085640、rs17149989、rs17730481、rs17663071、rs17663167、rs4841147、rs1458938、rs1458939、rs11786942、rs17674819、rs1466338、rs13253327、rs17150066、rs11777274、rs11249921、rs17150087、rs1380104、rs11997346、rs4841156、rs6991328、rs17150131、rs7817148、rs10100760、rs17150181、rs17150185、rs17733293、rs7835349、rs7013746、rs7016636、rs3989158、rs17150211、rs4841169、rs4841171、rs6985564、rs11991621、rs4840426、rs6992432、rs10503380、rs7013834、rs6980831、rs12681719、rs4840427、rs4841179、rs7832096、rs4474027、rs4457339、rs12674762、rs4535743、rs1393、rs4342598、rs11780274、rs13273033、rs4841197、rs7010270、rs4841200、rs7459728、rs7461939、rs9644708、rs12545912、rs4840437、rs7004915、rs11785739、rs17150478、rs11787443、rs2898223、rs7820917、rs7829463、rs7000483、rs1567837、rs17734290、rs12540961、rs7829733、rs2137790、rs13249584、rs7013686、rs7015101、rs13270146、rs6601389、rs6601390、rs10098618、rs12056944、rs12543996、rs7828229、rs17150703、和rs531564组成的组,
人第8号染色体的包含ANGPT1的区域中的多态性位点选自由单核苷酸多态性国际编号rs12549261、rs10955436、rs6981257、rs11774921、rs11781710、rs1954724、rs6997025、rs1892764、rs16875775、rs11778352、rs2584372、rs2246255、rs2022958、rs2022949、rs16875901、rs1010824、rs2507799、rs10505100、rs11777978、rs16875983、rs9297393、rs7009229、rs13257393、rs4077322、rs11997995、rs10505105、rs4133396、rs4133395、rs4341141、rs10505107、rs11780324、rs35143736、rs17368715、rs17296616、rs17368821、rs10955450、rs1433178、rs2514850、rs1283653、rs2445351、rs1283659、rs16876122、rs1632130、rs1672143、rs16876200、rs2514867、rs1283706、rs1283703、rs11785702、rs1283663、rs1283694、rs1433192、rs1433191、rs1298936、rs1368497、rs1529747、rs2916085、rs1368494、rs3847160、rs1654680、rs17301273、rs10086467、rs16876325、rs1283720、rs1433171、rs1433172、rs10216767、rs1583300、rs281708、rs10955457、rs10103715、rs281673、rs439896、rs281685、rs281696、rs2014769、rs281740和rs190735、以及NCBI(v36.1)108394240组成的组,
人第9号染色体的包含PGM5的区域中的多态性位点选自由单核苷酸多态性国际编号rs3869296、rs7020465、rs11142449、rs11142461、rs10868851、rs13439981、rs7039076、rs265083、rs2131355、rs265087、rs265073、rs7861495、rs10869020、rs17085775、rs11795256、rs10869034、rs1411992、rs10869043、rs12343877、rs11142941、rs869950、rs7046236和rs9644996组成的组,
人第9号染色体的包含TMC1的区域中的多态性位点选自由单核苷酸多态性国际编号rs3012514、rs7846808、rs7027640、rs10781101、rs4526421、rs7853275、rs10869178、rs7864535、rs12004208、rs6560277、rs4573342、rs4132905、rs4073227、rs10121866、rs7044241、rs7855743、rs4373587、rs11143314、rs7047875、rs6560284、rs6560285、rs7857300、rs6560287、rs7866185、rs6560293、rs7026124、rs12346185、rs7041300、rs4307407、rs17095、rs10113863、rs7029452、rs6560297、rs7045535、rs13285932、rs10521449、rs13285999、rs10869190、rs9314799、rs1037031、rs2487471、rs2589623、rs2793153、rs2589615、rs969205、rs1796991、rs1838487、rs2589609、rs1663756、rs12351661、rs1663763、rs13298704和rs2501914组成的组,
人第9号染色体的包含ROR2的区域中的多态性位点选自由单核苷酸多态性国际编号rs6479357、rs9409602、rs10991978、rs10991988、rs7867934、rs1388966、rs902923、rs902922、rs10512215、rs1532230、rs12337820、rs7029450、rs2131304、rs10992027、rs9299395、rs1388967、rs4073736、rs4073735、rs9409652、rs10992075、rs7031729、rs17585790、rs16907725、rs16907728、rs4372069、rs16907761、rs16907764、rs17586213、rs7039620、rs16907768、rs10992090、rs3802379、rs3935382、rs4601388、rs4744101、rs4743852、rs10119449、rs7858240、rs7022147、rs1569141、rs10992124、rs7856144、rs7855417、rs6479374、rs1881385、rs16907863、rs12002851、rs1881392、rs10992137、rs7045226、rs11789730、rs16907923、rs12684524、rs7858435、rs10116326、rs16907979、rs10992161、rs6479386、rs3858082、rs7038823、rs7871522、rs10125466、rs10992178、rs10820926、rs6479389、rs10820927、rs7867072、rs1954599和rs10992207组成的组,
人第9号染色体的包含PPP6C和/或C9orf126的区域中的多态性位点选自由单核苷酸多态性国际编号rs7022663、rs7024526、rs2289631、rs10986505、rs16927802、rs12001999、rs10819019、rs6478690、rs1017530、rs3824507、rs12352758、rs4838242、rs650599、rs7860360、rs2113352、rs7019234、rs7867749、rs2271746、rs16927930、rs10986618、rs10986626、rs12237026、rs463774、rs420423、rs10986641、rs10513445、rs393721、rs10819043、rs10986689、rs10986698、rs10986703、rs10986714、rs10986715、rs10986721、rs10986722、rs1463837、rs4837016、rs10126025、rs10986738、rs2819624和rs3122938组成的组,
人第10号染色体的包含GRID1的区域中的多态性位点选自由单核苷酸多态性国际编号rs2202925、rs17306253、rs10887498、rs12243608、rs1876887、rs2457451、rs2664403、rs2664394、rs1912274、rs1912322、rs744413、rs2664406、rs2664405、rs2616673、rs2175200、rs2175201、rs17105725、rs1912277、rs2457450、rs17105747、rs746992、rs7076174、rs4027581、rs11201743、rs4418740、rs17105793、rs12221324、rs17105805、rs7924009、rs11201759、rs11201775、rs3011700、rs2949380、rs17105842、rs3011704、rs2140661、rs1917136、rs17105866、rs1880389、rs884316、rs2949384、rs2949385、rs2140666、rs2949386、rs1106789、rs11201804、rs17105912、rs17105916、rs2352181、rs947596、rs2352099、rs7924131、rs7923188、rs7923344、rs1418396、rs7899222、rs10788472、rs10887538、rs2153828、rs7910835、rs7914815、rs7918491、rs2001417、rs2001416、rs10887540、rs7095652、rs12773130、rs12779841、rs10887544、rs11201871、rs10887549、rs10788476、rs2003111、rs7912451、rs11201882、rs2352178、rs7923926、rs7082134、rs4284352、rs6585995、rs6585996、rs5003944、rs7923310、rs884700、rs4934156、rs11201909、rs868042、rs12257526、rs12262754、rs11817682、rs12243396、rs1870156、rs2607830、rs17320915、rs2814322、rs2607840、rs11201944、rs17106434、rs2607822、rs10887563、rs10887564、rs2492738、rs1870161、rs2607839、rs1870165、rs2814340、rs1902678、rs2814349、rs1947567、rs2168725、rs1902680、rs2607833、rs1902676、rs1896527、rs6586003、rs12262612、rs6586004、rs17106584、rs7905184、rs10887578、rs10509530、rs1078789、rs10749537、rs12355013、rs7904985、rs10788500、rs10788501、rs10458771、rs2018507、rs10887608、rs4934207、rs4934208和rs7083506组成的组,
人第11号染色体的包含11p11.2(包含SPI1和/或SLC39A13和/或PSMC3和/或RAPSN和/或NUP160)的区域中的多态性位点选自由单核苷酸多态性国际编号rs7124648、rs7128650、rs4587689、rs11039097、rs12796744、rs17197619、rs17790390、rs11039105、rs10501319、rs11039112、rs747650、rs7937410、rs17197710、rs1685404、rs2013867、rs901746、rs7118396、rs10838681、rs10501321、rs1051006、rs3816724、rs7124955、rs4752824、rs1052373、rs11570094、rs10769255、rs11039212、rs4992357、rs11605672、rs1534576、rs10742805、rs12419692、rs4752856、rs3817334、rs7120548、rs10838739、rs11039329、rs10742817、rs4752791、rs17788930、rs7114011、rs10838774、rs2305982、rs6485788、rs10838782、rs7924699、rs1872167、rs747782和rs1681630组成的组,
人第11号染色体的包含OR5R1的区域中的多态性位点选自由单核苷酸多态性国际编号rs1586004、rs7940239、rs10896302、rs17615246、rs10750820、rs1945245、rs3938998、rs10791979、rs1573511、rs12277883、rs7116573、rs10896333、rs4420287、rs1894026、rs1945213、rs1945211、rs7113069、rs11228306、rs12785840、rs10501353、rs1945203、rs585475、rs615231、rs617315、rs675991、rs7939886、rs4939052、rs621957、rs611534、rs594854、rs618594、rs634955和rs613050组成的组,
人第11号染色体的包含MS4A7和/或MS4A14的区域中的多态性位点选自由单核苷酸多态性国际编号rs1026250、rs10750931、rs7126121、rs11230241、rs10897026、rs12225299、rs10792264、rs7125753、rs11605188、rs1899571、rs11230258、rs11230261、rs7943967、rs4442568、rs10897047、rs2868121、rs7945665、rs10897049、rs4506675、rs10792267、rs2304935、rs2165832、rs10736703、rs4939347、rs2233244、rs950803、rs950802、rs3816270、rs2241920、rs10501383、s10897056、rs4939352、rs955019、rs4938943、rs11230304、rs3763850、rs2282524、rs10897061、rs2120182、rs12787520、rs4146870、rs4939364、rs1051756、rs1941032、rs17615252、rs17543397、rs8181503、rs7946021、rs4939391、rs2186919、rs2847222、rs2633277和rs2847212、以及NCBI(v36.1)59954904组成的组,
人第11号染色体的包含MAP6和/或GDPD5和/或SERPINH1的区域中的多态性位点选自由单核苷酸多态性国际编号rs565976、rs534179、rs2276443、rs532454、rs511190、rs566818、rs482458、rs1793412、rs1790149、rs1790155、rs1790154、rs668727、rs11600640、rs611449、rs11236449、rs661928、rs621305、rs11236452、rs7128888、rs7129014、rs688727、rs674503、rs606452、rs11236458、rs599816、rs660343、rs541993、rs601142、rs648930、rs611221、rs12574551、rs584046、rs640927、rs11236476、rs17134231、rs12282340、rs10160335、rs12281880、rs656007、rs479592、rs589443、rs4944086、rs10751245、rs7110142、rs7947980和rs509530、以及NCBI(v36.1)75005360组成的组,
人第11号染色体的包含11q23-24(包含PCSK7和/或RNF214)的区域中的多态性位点选自由单核苷酸多态性国际编号rs17120344、rs6589597、rs10790175、rs12420127、rs10892082、rs7107152、rs1242229、rs1784042、rs2269399、rs526602、rs664971、rs11216315、rs1263499、rs17120523、rs236919、rs528508、rs593245和rs477036、以及NCBI(v36.1)116617736组成的组,
人第12号染色体的包含TAOK3的区域中的多态性位点选自由单核苷酸多态性国际编号rs7297299、rs5745807、rs5745811、rs9739560、rs4767654、rs10638、rs9788041、rs11068799、rs11068803、rs10850953、rs7135008、rs11613924、rs7307331、rs9669474、rs7957463、rs10850956、rs2936840、rs904661、rs1726407、rs1726392、rs17440336、rs1277442、rs11068860、rs11068865、rs17512142、rs17440364、rs364823、rs418941、rs7974718、rs11068891、rs16948230、rs404566、rs16948234、rs17512483、rs17512574、rs2271007、rs11068937、rs7966814、rs6490178、rs905579、rs983421、rs1503767、rs7132650和rs7316050组成的组,
人第12号染色体的包含STX2的区域中的多态性位点选自由单核苷酸多态性国际编号rs7964173、rs11061064、rs10848174、rs7965385、rs7979388、rs7953972、rs4759749、rs4759751、rs7308461、rs1881062、rs10083153、rs729463、rs1881067、rs2695872、rs10848193、rs10848194、rs7305915、rs2398529、rs3864899、rs4412792、rs2632601、rs1554807、rs10848205、rs2037789、rs4619189、rs2001483、rs1609985、rs10848218、rs11061198、rs7307055、rs11061209、rs10773833、rs11061222、rs7299940、rs2141182、rs1405904、rs1316893、rs4074922和rs4388928组成的组,
人第13号染色体的包含CARS2的区域中的多态性位点选自由单核苷酸多态性国际编号rs9521809、rs4773201、rs1106649、rs9521814、rs385037、rs7997619、rs912941、s1886871、rs2182271、rs912942、rs331596、rs9559844、rs331602、rs1536621、rs9521853、rs9559849、rs7999854、rs3858821、rs4771696、rs4773228、rs4773229、rs2765341、rs3742193、rs3742194、rs7323602、rs3759463、rs179356、rs330565、rs7394、rs389656、rs450514、rs445490、rs418321、rs2251314、rs2165418、rs7999702、rs9521926、rs3098728、rs9515279和rs2582886、以及NCBI(v36.1)110097814组成的组,
人第15号染色体的包含CYP19A1的区域中的多态性位点选自由单核苷酸多态性国际编号rs6493469、rs12595526、rs8031702、rs17599974、rs16953045、rs10744956、rs2306335、rs6493470、rs7181201、rs11856609、rs1124769、rs17647040、rs12899586、rs12904155、rs7170455、rs7177664、rs8040954、rs17647084、rs4775916、rs1111266、rs16964077、rs1025738、rs7179084、rs7176579、rs16964113、rs10519293、rs17522553、rs12324478、rs1075681、rs2899469、rs8031580、rs8029120、rs4774583、rs2289105、rs8034835、rs6493489、rs16964201、rs12595627、rs8023263、rs2899473、rs700518、rs3759811、rs17703883、rs1865803、rs4775936、rs10459592、rs17523270、rs10519297、rs11636686、rs11636667、rs1062033、rs2008691、rs11636403、rs10519299、rs17647707、rs17647719、rs7167343、rs936308、rs12594203、rs999480、rs2290622、rs8031463、rs6493495、rs2445765、rs2445766、rs2445768、rs1551656、rs12441382、rs2446420、rs2124873、rs2470184、rs2470187、rs2445781、rs12595284、rs17647970、rs7174434、rs764530、rs12438104、rs16964308、rs4775942、rs16964316、rs2470172、rs2470173、rs16964319、rs10163098、rs12443092、rs2168623、rs3751586、rs2445741、rs8036694、rs2459396和rs16964348、以及NCBI(v36.1)49383121组成的组,
人第17号染色体的包含CA10的区域中的多态性位点选自由单核苷酸多态性国际编号rs4794268、rs4794274、rs4399573、rs12051837、rs6504736、rs7208167、rs9303589、rs1468118、rs10491154、rs17695254、rs2073864、rs9912472、rs3764798、rs17695921、rs11867674、rs886078、rs8076197、rs8076496、rs2073866、rs9901183、rs4794293、rs8064617、rs4794294、rs985758、rs4794295、rs16950363、rs2873938、rs1263962、rs1263965、rs1263988、rs1263989、rs4794298、rs4794300、rs8080331、rs11869209、rs1269480、rs1263978、rs1003290、rs1263981、rs1405191、rs1263984、rs9904076、rs4794304、rs8074185、rs6504747、rs16950512、rs7223782、rs4794305、rs16950534、rs1526182、rs1501255、rs4496207、rs1125750、rs1405187、rs767326、rs981577、rs4794307、rs202133、rs16950626、rs9896969、rs202136、rs202121、rs202120、rs203076、rs203090、rs203092、rs203093、rs203097、rs203098、rs10514990、rs203010、rs10514991、rs203022、rs6504754、rs12603762、rs169386、rs203042、rs7215008、rs996379、rs4794315、rs1501253、rs203050、rs203002、rs1005092、rs9896168、rs8065627、rs16950939、rs2907784、rs11079991、rs1393735、rs2970016、rs1875675、rs2938139、rs1354275、rs7224915、rs9893317、rs1503059、rs2970052、rs11655715、rs1155218、rs2931368、rs2931365、rs2931364、rs9908649、rs1486745、rs4605214、rs1503041、rs10514997、rs10514998、rs11079993、rs1503050、rs1503051、rs10515000、rs12949235、rs1393734、rs17678475、rs16951169、rs12150128、rs16951176、rs16951177、rs9903651、rs10515001、rs1847245、rs12150499和rs6504764组成的组,
人第18号染色体的包含LOC643542的区域中的多态性位点选自由单核苷酸多态性国际编号rs8086948、rs12457951、rs11151371、rs17077389、rs1480679、rs5000099、rs1480682、rs433411、rs370944、rs395074、rs379982、rs281571、rs1444106、rs2448716、rs1562072、rs1867412、rs17077583、rs764133、rs17828615、rs2440515、rs10503119、rs2318439、rs12607172、rs9319737、rs1444112、rs2448755、rs2448745、rs2440527、rs28379561、rs10503118、rs1562070、rs2448727、rs17077858、rs12605273、rs2440540、rs4127445、rs7231324、rs12964913、rs9319739、rs17077963、rs12954315、rs4127447、rs7243836、rs8085641、rs2054299、rs515540、rs519360、rs17078114、rs2613163、rs652082、rs638006、rs3911662、rs12966846、rs3845265、rs11661918、rs11151403和rs9953435组成的组,
人第20号染色体的包含PTPRT的区域中的多态性位点选自由单核苷酸多态性国际编号rs1884029、rs6072606、rs2207220、rs4812571、rs4572656、rs2013923、rs4812574、rs6513762、rs6513763、rs6029950、rs2144009、rs2866941、rs6102658、rs2144011、rs3787282、rs746413、rs4812578、rs6102671、rs1126101、rs6065434、rs4810352、rs1076666、rs6029980、rs6016688、rs2076249、rs17221018、rs17221067、rs17312515、rs17221137、rs6130047、rs16986551、rs17221326、rs16986558、rs12625871、rs6016698、rs6030014、rs17221823、rs1883377、rs6016705、rs2179336、rs2143008、rs6030030、rs2206169、rs6102713、rs6093598、rs6030070、rs6030071、rs1014757、rs2143632、rs6030076、rs16986712、rs727337、rs727336、rs6030096、rs11906485、rs2867026、rs16986733、rs11698118、rs6124439、rs11696306、rs1016071、rs6030124、rs1573707、rs6016745、rs12481463、rs4812588、rs6102795、rs11697499、rs4812591、rs916327、rs1883269、rs16986850、rs1033414、rs11700137、rs6072747、rs999114、rs999113、rs6016798、rs2076082、rs6065482、rs6065484、rs6065487、rs6130145、rs230153、rs230154、rs172981、rs230155、rs6072758、rs230157、rs6124468、rs6102880、rs6130153、rs6065504、rs6065509、rs6072789、rs1033643、rs13040647、rs16987042、rs6030322、rs6072792、rs4482557、rs6130168、rs6030341、rs17747544、rs6065515、rs1883843、rs8119203、rs10854226、rs6102929、rs8121443、rs6030363、rs6102950、rs2867488、rs7360934、rs909863、rs6030370、rs6030380、rs6030381、rs9974028、rs6093705、rs6030385、rs6102967、rs2223542、rs6030395、rs6065520、rs6072814、rs2206426、rs6016864、rs6072819、rs6030407、rs6065525、rs2425520、rs2425530、rs4812631、rs4810366、rs2017914、rs3092557、rs17749109、rs4812637、rs6030442、rs6030443、rs1018407、rs6016884、rs1022819、rs733976、rs6030456、rs6093729、rs6030462、rs17749217、rs2146615、rs8119733、rs13042473、rs6103041、rs1973949、rs208256、rs208254、rs3092043、rs2077768、rs208250、rs4812645、rs6130222、rs4812655、rs6130232、rs208230、rs208229、rs6065544、rs6065545、rs6065546、rs7262282、rs7262355、rs11699742、rs8125304、rs6065547、rs4812659、rs16987493、rs208272、rs208273、rs4315585、rs208186、rs208197、rs206636、rs6030572、rs4812664、rs4812665、rs16987668、rs206148、rs206154、rs206159、rs206163、rs2208048、rs2425546、rs2425553、rs2425554、rs2425560、rs2425562、rs1106978、rs6030634、rs6016951、rs1006746、rs2425587、rs927058、rs2425593、rs2425599、rs2425610、rs16987770、rs6016963、rs6065579、rs1572929、rs6072998、rs6030670、rs947202、rs947203、rs4812681、rs6093784、rs4812683、rs10485698、rs926288、rs1569445、rs6030689、rs2867656、rs11699547、rs6030709和rs7267873、以及NCBI(v36.1)40130174组成的组,
人第21号染色体的包含ITSN1的区域中的多态性位点选自由单核苷酸多态性国际编号rs12626309、rs2834231、rs4817579、rs2834238、rs2211689、rs2834246、rs2834251、rs2834252、rs1537097、rs1892589、rs2073368、rs2409499、rs9978415、rs2268247、rs9979937、rs2834264、rs2834268、rs879261、rs2245099、rs1108000、rs9979150、rs743316、rs2300384、rs3746861、rs2834292、rs2834295、rs2040113、rs2834296、rs2834297、rs2239565、rs17655810、rs12626410、rs2834303、rs2236645、rs2834310、rs16991110、rs2070513、rs2032312、rs2032313、rs2834315、rs11088265、rs17730050和rs2834332组成的组,
人第2号染色体的包含LRP2的区域中的多态性位点选自由单核苷酸多态性国际编号rs13416802、rs2287616、rs2287613、rs3770597、rs10200158、rs6761690、rs13430236、rs3814381、rs4148765、rs10490134、rs11902639、rs10183805、rs13403114、rs3815574、rs2302698、rs6750251、rs4667590、rs4668121、rs1990702、rs6746604、rs990627、rs990626、rs2268380、rs6733122、rs2284681、rs11679947、rs10490132、rs2239602、rs2024481、rs741378、rs2284679、rs4287730、rs10210408、rs1548936、rs3770604、rs2075248、rs10490131、rs10169232、rs2239600、rs2284675、rs2268373、rs2268372、rs2193193、rs2268370、rs6747692、rs2300445、rs2239598、rs2239597、rs2239596、rs2239594、rs830957、rs830959、rs12988804、rs831002、rs16856748、rs11887007、rs16856759、rs830964、rs830971、rs830972、rs2247506、rs3845731、rs3770636、rs2673172、rs6713072、rs1990842、rs10199676、rs830955、rs12616998、rs12613663、rs10930354、rs4281872和rs12052892组成的组,
人第11号染色体的包含APIP和/或PDHX的区域中的多态性位点选自由单核苷酸多态性国际编号rs523246、rs10501136、rs836950、rs12808574、rs10836315、rs502857、rs731726、rs731727、rs967751、rs1553760、rs1396880、rs2941043、rs2941042、rs2941061、rs2956079、rs2941054、rs1509662、rs2941052、rs2915234、rs891550、rs919554、rs2915232、rs2956086、rs1998603、rs2985390、rs1571134、rs1571135、rs2915224、rs1430855、rs2985389、rs3751078、rs2915223、rs2915220、rs2986425、rs2986427、rs1326940、rs1326941、rs1326942、rs2986429、rs2915217、rs7111607、rs2915214、rs984690、rs3763934、rs10488801、rs2956106、rs11032927、rs2915202、rs2915201、rs2915199、rs1998912、rs2915193、rs11032937、rs2915227、rs2732557、rs10836326、rs2767038、rs10488806、rs2732564、rs2732565、rs2767033、rs1409716、rs2762955、rs952489、rs514182、rs1425806、rs2732528、rs2553794、rs2553793、rs678137、rs2785156、rs2553787、rs737503、rs737502、rs2162159、rs2732552、rs387619、rs10836332、rs353610、rs353605、rs2785189、rs2553822、rs11032995、rs12291631、rs353590、rs353589、rs353587、rs1559759、rs4756190、rs353581、rs7106681、rs507230、rs634096、rs2732578、rs404977、rs4756191和rs2785180组成的组,
人第12号染色体的包含CUX2的区域中的多态性位点选自由单核苷酸多态性国际编号rs7979656、rs10849918、rs2106407、rs2106406、rs12425190、rs11065783、rs2339706、rs4509829、rs7961663、rs4766526、rs4766442、rs4766443、rs12815195、rs12229654、rs756825、rs16941284、rs6489979、rs4766553、rs9783423、rs7952972、rs16941319、rs3809290、rs7962233、rs4766451、rs886126、rs2078851、rs1265566、rs2301658、rs7300082、rs7300860、rs16941414、rs7398833、rs16941437、rs10849946、rs2078863和rs11065898组成的组,
人第17号染色体的包含TOM1L1的区域中的多态性位点选自由单核苷酸多态性国际编号rs2332297、rs2934884、rs16955216、rs2934890、rs7225247、rs16955225、rs9303359、rs7207731、rs17683089、rs11658131、rs2958944、rs2934909、rs2934914、rs2934921、rs2958933、rs7221313、rs7210248、rs2958921、rs8079105、rs16955327、rs12949718、rs9899602、rs17745123、rs8070668、rs9910653、rs17817829、rs12936860、rs12951898、rs17817950和rs2787501、以及NCBI(v36.1)50344775组成的组。
(3)如(1)或(2)所述的检查方法,其中,当用p值来表示正常眼压性青光眼患者与健康人之间的显著性差异时,多态性位点的p值小于0.05。
(4)如(3)所述的检查方法,其中,
人第6号染色体的包含ELOVL5的区域中的多态性位点选自由单核苷酸多态性国际编号rs2817088、rs2817090、rs2816372、rs2562895、rs2816364、rs2562893、rs2817101、rs2816362、rs2816356、rs2562898、rs735860、rs2057024、rs1429146、rs9463895、rs2235723、rs1346603、rs9474476、rs2294867、rs9349660、rs974323、rs6909592、rs9367520、rs9395854、rs209485、rs9395856、rs7747926、rs7738788、rs209500、rs9357760、rs9370196、rs209512、rs209517、rs93702011和rs9367529组成的组,
人第2号染色体的包含SRBD1的区域中的多态性位点选自由单核苷酸多态性国际编号rs2343466、rs11888802、rs2343468、rs12471726、rs2081297、rs10460504、rs6719211、rs3213787、rs4455206、rs3755076、rs3770264、rs10205197、rs17033745、rs17322370、rs17033801、rs748573、rs6708810、rs6710581、rs17033871、rs3755082、rs11884064和rs556650组成的组,
人第3号染色体的包含ARPP-21的区域中的多态性位点选自由单核苷酸多态性国际编号rs12487524、rs872133、rs2197728、rs2359774、rs6799641、rs4678789、rs11129660、rs11129662、rs6779091、rs3772395、rs17228111、rs735353、rs11920715、rs1455489、rs4678509、rs10510667、rs6799649和rs4234248组成的组,
人第4号染色体的包含EPHA5的区域中的多态性位点选自由单核苷酸多态性国际编号rs371925、rs4241661、rs2167320、rs1159057、rs12501311、rs17086016、rs961489、rs7684130、rs3749526、rs11938753、rs7658065、rs17082122、rs4289492、rs9991256、rs7660334和rs4604104组成的组,
人第6号染色体的包含GMDS的区域中的多态性位点选自由单核苷酸多态性国际编号rs2438083、rs7744559、rs9378292、rs2569866、rs11242704、rs2816286、rs2816287、rs2317965、rs2873591、rs2569835、rs2745567、rs2493160、rs1810496、rs12197419、rs2318108、rs6919059、rs17134506、rs3800142、rs3800146、rs10223785、rs6596866、rs4959621、rs4412249、rs4367413、rs11242729、rs6925298、rs9392353、rs11242730、rs4580917、rs11242733、rs11242735、rs476594、rs9378676、rs676015、rs2026446、rs4959631、rs11242740、rs3778557、rs234930、rs234915、rs234914、rs3800184、rs234932、rs3778568、rs9405550、rs3823287、rs1196396、rs1684153、rs9328087、rs2479003、rs2479004、rs2505678、rs2479008、rs2505674、rs7766115、rs4959648、rs7449538、rs6902556、rs6925653和rs6904395组成的组,
人第6号染色体的包含6p21.3(包含HSPA1B)的区域中的多态性位点选自由单核苷酸多态性国际编号rs2077102、rs805301、rs2242655、rs707918、rs805292、rs2299851、rs707939、rs480092、rs2075800、rs2763979和rs11965547组成的组,
人第6号染色体的包含SYTL3的区域中的多态性位点选自由单核苷酸多态性国际编号rs6455585、rs6931414、rs6925091、rs6913912、rs894124、rs6455601和rs3123094组成的组,
人第7号染色体的包含NXPH1的区域中的多态性位点选自由单核苷酸多态性国际编号rs10246412、rs17404198、rs17149337、rs17404218、rs11976158、rs6978212、rs10261060、rs4401754、rs10278603、rs7787432、rs10237485和NCBI(v36.1)8484291组成的组,
人第7号染色体的包含LHFPL3的区域中的多态性位点选自由单核苷酸多态性国际编号rs7794181、rs11763758、rs756669、rs4730038、rs4584085、rs17141284、rs17141299和NCBI(v36.1)104196627组成的组,
人第11号染色体的包含GLB1L3的区域中的多态性位点选自由单核苷酸多态性国际编号rs11223704、rs1146192、rs1144219、rs2510356和rs1866768组成的组,
人第18号染色体的包含ZNF407的区域中的多态性位点选自由单核苷酸多态性国际编号rs514931、rs10871527和rs17832851组成的组,
人第1号染色体的包含PAX7的区域中的多态性位点选自由单核苷酸多态性国际编号rs2298893、rs685300和rs2056446组成的组,
人第1号染色体的包含PTPRF的区域中的多态性位点选自由单核苷酸多态性国际编号rs6687571、rs2039528、rs10890251、rs10890257、rs12058744、rs11210879、rs10789438、rs11210892、rs617521和rs10789439组成的组,
人第1号染色体的包含1q12-q21.1(包含CHD1L和/或FMO5)的区域中的多态性位点选自由单核苷酸多态性国际编号rs2355388、rs6686200、rs12122453、rs12122534、rs517201、rs2031481、rs2477568、rs2477569、rs535827、rs6593732、rs17359526、rs6693631、rs11811023、rs4950371、rs2304893、rs6593739、rs7525703、rs2883434、rs17159914、rs6593745、rs6670503、rs6703187、rs10793652、rs7537483、rs7537703、rs3820130、rs3737845、rs4950315、rs10494244、rs6683839、rs10793656、rs17360443、rs12033407、rs10793661、rs10736837、rs10900336、rs4950409、rs10793682、rs11240055、rs17160256、rs17160264和rs17160305组成的组,
人第1号染色体的包含1q21.2-q21.3(包含FDPS和/或ASH1L和/或KCNN3)的区域中的多态性位点选自由单核苷酸多态性国际编号rs11265310、rs16836320、rs868108、rs4845390、rs1984285、rs11264339、rs3768566、rs11264345、rs7520184、rs12032720、rs11264359、rs11264363、rs5005770、rs1325908、rs11264375、rs475550、rs821551、rs822490、rs822508、rs1749405、rs954916和rs11590409组成的组,
人第1号染色体的包含FAM5B和/或ASTN1的区域中的多态性位点选自由单核苷酸多态性国际编号rs227521、rs227519、rs10047146、rs10489307、rs1402640、rs10913291、rs10798503、rs725416、rs554454、rs10913300、rs760689、rs6683060、rs926319、rs6699955、rs10798508、rs2139876、rs17315298、rs2861972和rs6672376组成的组,
人第1号染色体的包含PKP1的区域中的多态性位点选自由单核苷酸多态性国际编号rs1404401、rs16847944、rs1572968、rs12143423、rs6427900和rs2275860组成的组,
人第2号染色体的包含KLHL29和/或FLJ14126的区域中的多态性位点选自由单核苷酸多态性国际编号rs12613333、rs2723129、rs1465677、rs1864807、rs1864808、rs497973和rs3806510组成的组,
人第3号染色体的包含THRB的区域中的多态性位点选自由单核苷酸多态性国际编号rs1397878、rs6808673、rs17194828、rs9310730、rs7652444、rs4858594、rs17787319、rs1505307、rs7640580、rs9833191、rs3951794和rs5014281组成的组,
人第3号染色体的包含MED12L和/或CLRN10S和/或GPR171的区域中的多态性位点选自由单核苷酸多态性国际编号rs1993404、rs16863149、rs16863204、rs16863208、rs3732755、rs3773614、rs9820422、rs1388622和rs4680474组成的组,
人第4号染色体的包含SORBS2的区域中的多态性位点选自由单核苷酸多态性国际编号rs10015164、rs10024359、rs11940307、rs2648120、rs2648117、rs4861686、rs4637445、rs2278938、rs12641600、rs4862600和rs10002339组成的组,
人第5号染色体的包含MAST4的区域中的多态性位点选自由单核苷酸多态性国际编号rs16895719、rs16895744、rs37568、rs16896071、rs39664、rs469300、rs467845和NCBI(v36.1)65944399组成的组,
人第5号染色体的包含GLRX和/或C5orf27的区域中的多态性位点选自由单核苷酸多态性国际编号rs6876015、rs11135436、rs6884979、rs7702848、rs2080947和NCBI(v36.1)95206085组成的组,
人第5号染色体的包含EBF1的区域中的多态性位点选自由单核苷酸多态性国际编号rs1541649、rs2116727、rs10067813、rs7709065、rs10070743、rs10056564、rs6556373、rs4921537、rs1544754、rs17056426、rs1363561、rs1422672、rs10515787和rs10515786组成的组,
人第5号染色体的包含DOCK2的区域中的多态性位点选自由单核苷酸多态性国际编号rs7729471、rs261039、rs2291229、rs17646198、rs17560405、rs261006、rs155023、rs259900、rs13152920、rs11134603和rs10462995组成的组,
人第6号染色体的包含6p21.31-p21.3(包含HLA-DPA1)的区域中的多态性位点选自由单核苷酸多态性国际编号rs10484565、rs9276825、rs188245、rs6457710、rs455567、rs211453、rs2772376、rs9469491、rs9296095、rs498114、rs654682、rs10947432、rs943466、rs755495、rs747692、rs943475、rs6929696、rs3828783和rs9366829组成的组,
人第6号染色体的包含LOC100132919的区域中的多态性位点选自由单核苷酸多态性国际编号rs9377361、rs9322660、rs9322661、rs2399802、rs680011、rs9499111、rs1569366、rs1569367和rs6906578组成的组,
人第7号染色体的包含AAA1和/或NPSR1的区域中的多态性位点选自由单核苷酸多态性国际编号rs12673387、rs6950303、rs1034876、rs17169864、rs17169865、rs16878959、rs10486649、rs12672538、rs450463、rs2530548、rs2530549、rs2530550、rs1458544、rs323925和rs323912组成的组,
人第7号染色体的包含ELMO1的区域中的多态性位点选自由单核苷酸多态性国际编号rs4720221、rs2392472、rs17170754、rs3807162和rs11982286组成的组,
人第8号染色体的包含TNKS的区域中的多态性位点选自由单核苷酸多态性国际编号rs1466338、rs6991328、rs17150131、rs7817148、rs7016636、rs6985564、rs4840426、rs7832096、rs13273033、rs4841200、rs7459728、rs7461939、rs9644708、rs12545912、rs4840437、rs7004915、rs7820917、rs7829463、rs17734290、rs13270146、rs6601389、rs6601390、rs10098618、rs12056944、rs12543996和rs7828229组成的组,
人第8号染色体的包含ANGPT1的区域中的多态性位点选自由单核苷酸多态性国际编号rs16876200、rs2514867、rs11785702、rs1283663、rs1283694、rs1433192、rs1433191和rs10216767组成的组,
人第9号染色体的包含PGM5的区域中的多态性位点选自由单核苷酸多态性国际编号rs7020465、rs10868851、rs7039076、rs2131355、rs265073、rs7861495、rs10869020、rs11795256、rs10869034、rs1411992、rs10869043和rs12343877组成的组,
人第9号染色体的包含TMC1的区域中的多态性位点选自由单核苷酸多态性国际编号rs7027640、rs12004208、rs6560277、rs7044241、rs4373587、rs11143314、rs7047875、rs7866185、rs7026124、rs12346185、rs7041300、rs4307407、rs10113863、rs7029452、rs7045535、rs13285932、rs10521449、rs1037031和rs2487471组成的组,
人第9号染色体的包含ROR2的区域中的多态性位点选自由单核苷酸多态性国际编号rs10119449、rs7022147、rs7856144、rs6479374、rs1881385和rs7045226组成的组,
人第9号染色体的包含PPP6C和/或C9orf126的区域中的多态性位点选自由单核苷酸多态性国际编号rs1017530、rs7860360、rs2113352、rs7019234、rs2271746、rs10986618、rs10986626、rs10513445、rs10986703和rs10986738组成的组,
人第10号染色体的包含GRID1的区域中的多态性位点选自由单核苷酸多态性国际编号rs2202925、rs11201743、rs17105793、rs17105805、rs11201775、rs10887549、rs10788476和rs4284352组成的组,
人第11号染色体的包含11p11.2(包含SPI1和/或SLC39A13和/或PSMC3和/或RAPSN和/或NUP160)的区域中的多态性位点选自由单核苷酸多态性国际编号rs11039112、rs747650、rs1685404、rs11570094、rs11039212、rs4992357、rs11605672、rs10742805、rs12419692、rs4752856、rs3817334、rs4752791、rs17788930、rs2305982、rs6485788、rs7924699和rs1872167组成的组,
人第11号染色体的包含OR5R1的区域中的多态性位点选自由单核苷酸多态性国际编号rs1586004、rs7940239、rs10791979、rs1573511、rs12277883、rs7116573、rs10896333、rs4420287、rs1894026、rs7113069、rs11228306、rs10501353、rs1945203、rs615231、rs7939886、rs4939052、rs621957、rs611534、rs594854、rs618594和rs634955组成的组,
人第11号染色体的包含MS4A7和/或MS4A14的区域中的多态性位点选自由单核苷酸多态性国际编号rs4939347、rs2233244、rs3816270、rs2241920、rs10501383、s10897056和rs4939352组成的组,
人第11号染色体的包含MAP6和/或GDPD5和/或SERPINH1的区域中的多态性位点选自由单核苷酸多态性国际编号rs482458、rs661928、rs7128888、rs7129014、rs688727、rs12574551、rs17134231、rs12282340、rs10160335和rs12281880组成的组,
人第11号染色体的包含11q23-24(包含PCSK7和/或RNF214)的区域中的多态性位点选自由单核苷酸多态性国际编号rs664971、rs17120523和rs528508组成的组,
人第12号染色体的包含TAOK3的区域中的多态性位点选自由单核苷酸多态性国际编号rs10850953、rs1726392、rs17440336、rs17512142、rs17440364、rs16948230、rs16948234、rs17512483和rs17512574组成的组,
人第12号染色体的包含STX2的区域中的多态性位点选自由单核苷酸多态性国际编号rs7305915、rs3864899、rs1554807、rs10848205、rs2037789、rs4619189、rs2001483和rs1405904组成的组,
人第13号染色体的包含CARS2的区域中的多态性位点选自由单核苷酸多态性国际编号rs4773201、rs450514、rs445490、rs418321和rs2251314组成的组,
人第15号染色体的包含CYP19A1的区域中的多态性位点选自由单核苷酸多态性国际编号rs12595526、rs1124769、rs17647040、rs7170455、rs7177664、rs8040954、rs8029120、rs4774583、rs2289105、rs8034835、rs6493489、rs8023263、rs700518、rs3759811、rs4775936、rs10459592、rs17523270、rs10519297、rs11636686、rs11636667、rs11636403、rs10519299、rs2445765、rs12441382、rs2446420、rs2445781、rs7174434、rs12438104、rs4775942和rs16964316组成的组,
人第17号染色体的包含CA10的区域中的多态性位点选自由单核苷酸多态性国际编号rs4794268、rs4794274、rs12051837、rs6504736、rs4496207、rs9896969、rs203076、rs203090、rs203092、rs12603762、rs169386、rs7215008、rs996379、rs4794315、rs1501253、rs203050、rs1005092和rs9896168组成的组,
人第18号染色体的包含LOC643542的区域中的多态性位点选自由单核苷酸多态性国际编号rs433411、rs370944、rs395074、rs281571、rs2448716、rs2440515、rs10503119、rs2318439、rs12607172、rs9319737、rs1444112和rs17077963组成的组,
人第20号染色体的包含PTPRT的区域中的多态性位点选自由单核苷酸多态性国际编号rs4572656、rs16986733、rs6016745、rs6016798、rs6065487、rs6130145、rs230153、rs230155、rs6072758、rs8119203、rs6030395、rs2425530、rs4812637、rs6030456、rs927058、rs2425593、rs16987770、rs6065579、rs6072998、rs6030670、rs947202、rs947203和rs6093784组成的组,
人第21号染色体的包含ITSN1的区域中的多态性位点选自由单核苷酸多态性国际编号rs2834268、rs9979150、rs2300384、rs3746861、rs2834292、rs2834303和rs2236645组成的组,
人第2号染色体的包含LRP2的区域中的多态性位点选自由单核苷酸多态性国际编号rs4668121、rs6746604、rs990627、rs990626、rs2268380、rs6733122、rs2284681、rs2239602、rs741378、rs10210408、rs1548936、rs3770604、rs2075248、rs10169232、rs2239600、rs2284675、rs2268370、rs6747692、rs2239596、rs830957、rs830959、rs12988804、rs831002、rs1990842和rs10199676组成的组,
人第11号染色体的包含APIP和/或PDHX的区域中的多态性位点选自由单核苷酸多态性国际编号rs836950、rs12808574、rs10836315、rs1998603、rs2985390、rs1571134、rs1571135、rs2915224、rs1430855、rs2985389、rs3751078、rs2915223、rs2915220、rs2986427、rs1326940、rs1326941、rs1326942、rs2986429、rs2915217、rs7111607、rs2915214、rs3763934、rs10488801、rs2956106、rs11032927、rs1998912、rs2915193、rs11032937、rs2915227、rs2767038、rs10488806、rs2732564、rs2732565、rs2767033、rs952489和rs353589组成的组,
人第12号染色体的包含CUX2的区域中的多态性位点选自由单核苷酸多态性国际编号rs756825、rs4766553、rs3809290、rs4766451、rs886126、rs1265566、rs2301658和rs7300082组成的组,
人第17号染色体的包含TOM1L1的区域中的多态性位点选自由单核苷酸多态性国际编号rs17817829、rs12951898、rs17817950和NCBI(v36.1)50344775组成的组。
(5)一种用于正常眼压性青光眼的检查的试剂,其中,包含选自由下述(a)和(b)的成分组成的组中的至少一种成分:
(a)能够将包含从以下区域组成的组中选择的至少一个区域中的至少一个多态性位点的区域进行扩增的引物,所述区域为:人第6号染色体的包含ELOVL5的区域、人第2号染色体的包含SRBD1的区域、人第3号染色体的包含ARPP-21的区域、人第4号染色体的包含EPHA5的区域、人第6号染色体的包含GMDS的区域、人第6号染色体的包含6p21.3(包含HSPA1B)的区域、人第6号染色体的包含SYTL3的区域、人第7号染色体的包含NXPH1的区域、人第7号染色体的包含LHFPL3的区域、人第11号染色体的包含GLB1L3的区域、人第18号染色体的包含ZNF407的区域、人第1号染色体的包含PAX7的区域、人第1号染色体的包含PTPRF的区域、人第1号染色体的包含1q12-q21.1(包含CHD1L和/或FMO5)的区域、人第1号染色体的包含1q21.2-q21.3(包含FDPS和/或ASH1L和/或KCNN3)的区域、人第1号染色体的包含FAM5B和/或ASTN1的区域、人第1号染色体的包含PKP1的区域、人第2号染色体的包含KLHL29和/或FLJ14126的区域、人第3号染色体的包含THRB的区域、人第3号染色体的包含MED12L和/或CLRN10S和/或GPR171的区域、人第4号染色体的包含SORBS2的区域、人第5号染色体的包含MAST4的区域、人第5号染色体的包含GLRX和/或C5orf27的区域、人第5号染色体的包含EBF1的区域、人第5号染色体的包含DOCK2的区域、人第6号染色体的包含6p21.31-p21.3(包含HLA-DPA1)的区域、人第6号染色体的包含LOC100132919的区域、人第7号染色体的包含AAA1和/或NPSR1的区域、人第7号染色体的包含ELMO1的区域、人第8号染色体的包含TNKS的区域、人第8号染色体的包含ANGPT1的区域、人第9号染色体的包含PGM5的区域、人第9号染色体的包含TMC1的区域、人第9号染色体的包含ROR2的区域、人第9号染色体的包含PPP6C和/或C9orf126的区域、人第10号染色体的包含GRID1的区域、人第11号染色体的包含11p11.2(包含SPI1和/或SLC39A13和/或PSMC3和/或RAPSN和/或NUP160)的区域、人第11号染色体的包含OR5R1的区域、人第11号染色体的包含MS4A7和/或MS4A14的区域、人第11号染色体的包含MAP6和/或GDPD5和/或SERPINH1的区域、人第11号染色体的包含11q23-24(包含PCSK7和/或RNF214)的区域、人第12号染色体的包含TAOK3的区域、人第12号染色体的包含STX2的区域、人第13号染色体的包含CARS2的区域、人第15号染色体的包含CYP19A1的区域、人第17号染色体的包含CA10的区域、人第18号染色体的包含LOC643542的区域、人第20号染色体的包含PTPRT的区域、人第21号染色体的包含ITSN1的区域、人第2号染色体的包含LRP2的区域、人第11号染色体的包含APIP和/或PDHX的区域、人第12号染色体的包含CUX2的区域、以及人第17号染色体的包含TOM1L1的区域;
(b)能够与包含从以下区域组成的组中选择的至少一个区域中的至少一个多态性位点的区域杂交的探针,所述区域为:人第6号染色体的包含ELOVL5的区域、人第2号染色体的包含SRBD1的区域、人第3号染色体的包含ARPP-21的区域、人第4号染色体的包含EPHA5的区域、人第6号染色体的包含GMDS的区域、人第6号染色体的包含6p21.3(包含HSPA1B)的区域、人第6号染色体的包含SYTL3的区域、人第7号染色体的包含NXPH1的区域、人第7号染色体的包含LHFPL3的区域、人第11号染色体的包含GLB1L3的区域、人第18号染色体的包含ZNF407的区域、人第1号染色体的包含PAX7的区域、人第1号染色体的包含PTPRF的区域、人第1号染色体的包含1q12-q21.1(包含CHD1L和/或FMO5)的区域、人第1号染色体的包含1q21.2-q21.3(包含FDPS和/或ASH1L和/或KCNN3)的区域、人第1号染色体的包含FAM5B和/或ASTN1的区域、人第1号染色体的包含PKP1的区域、人第2号染色体的包含KLHL29和/或FLJ14126的区域、人第3号染色体的包含THRB的区域、人第3号染色体的包含MED12L和/或CLRN10S和/或GPR171的区域、人第4号染色体的包含SORBS2的区域、人第5号染色体的包含MAST4的区域、人第5号染色体的包含GLRX和/或C5orf27的区域、人第5号染色体的包含EBF1的区域、人第5号染色体的包含DOCK2的区域、人第6号染色体的包含6p21.31-p21.3(包含HLA-DPA1)的区域、人第6号染色体的包含LOC100132919的区域、人第7号染色体的包含AAA1和/或NPSR1的区域、人第7号染色体的包含ELMO1的区域、人第8号染色体的包含TNKS的区域、人第8号染色体的包含ANGPT1的区域、人第9号染色体的包含PGM5的区域、人第9号染色体的包含TMC1的区域、人第9号染色体的包含ROR2的区域、人第9号染色体的包含PPP6C和/或C9orf126的区域、人第10号染色体的包含GRID1的区域、人第11号染色体的包含11p11.2(包含SPI1和/或SLC39A13和/或PSMC3和/或RAPSN和/或NUP160)的区域、人第11号染色体的包含OR5R1的区域、人第11号染色体的包含MS4A7和/或MS4A14的区域、人第11号染色体的包含MAP6和/或GDPD5和/或SERPINH1的区域、人第11号染色体的包含11q23-24(包含PCSK7和/或RNF214)的区域、人第12号染色体的包含TAOK3的区域、人第12号染色体的包含STX2的区域、人第13号染色体的包含CARS2的区域、人第15号染色体的包含CYP19A1的区域、人第17号染色体的包含CA10的区域、人第18号染色体的包含LOC643542的区域、人第20号染色体的包含PTPRT的区域、人第21号染色体的包含ITSN1的区域、人第2号染色体的包含LRP2的区域、人第11号染色体的包含APIP和/或PDHX的区域、人第12号染色体的包含CUX2的区域、以及人第17号染色体的包含TOM1L1的区域。
(6)一种正常眼压性青光眼的检查试剂盒,其中,包含(5)所述的试剂。
(7)一种正常眼压性青光眼诊断用标志基因,其中,含有多核苷酸,所述多核苷酸包含具有多态性位点的最长1000个碱基长度的连续的DNA部分序列或其互补链,所述多态性位点为从由人第6号染色体的包含ELOVL5的区域、人第2号染色体的包含SRBD1的区域、人第3号染色体的包含ARPP-21的区域、人第4号染色体的包含EPHA5的区域、人第6号染色体的包含GMDS的区域、人第6号染色体的包含6p21.3(包含HSPA1B)的区域、人第6号染色体的包含SYTL3的区域、人第7号染色体的包含NXPH1的区域、人第7号染色体的包含LHFPL3的区域、人第11号染色体的包含GLB1L3的区域、人第18号染色体的包含ZNF407的区域、人第1号染色体的包含PAX7的区域、人第1号染色体的包含PTPRF的区域、人第1号染色体的包含1q12-q21.1(包含CHD1L和/或FMO5)的区域、人第1号染色体的包含1q21.2-q21.3(包含FDPS和/或ASH1L和/或KCNN3)的区域、人第1号染色体的包含FAM5B和/或ASTN1的区域、人第1号染色体的包含PKP1的区域、人第2号染色体的包含KLHL29和/或FLJ14126的区域、人第3号染色体的包含THRB的区域、人第3号染色体的包含MED12L和/或CLRN10S和/或GPR171的区域、人第4号染色体的包含SORBS2的区域、人第5号染色体的包含MAST4的区域、人第5号染色体的包含GLRX和/或C5orf27的区域、人第5号染色体的包含EBF1的区域、人第5号染色体的包含DOCK2的区域、人第6号染色体的包含6p21.31-p21.3(包含HLA-DPA1)的区域、人第6号染色体的包含LOC100132919的区域、人第7号染色体的包含AAA1和/或NPSR1的区域、人第7号染色体的包含ELMO1的区域、人第8号染色体的包含TNKS的区域、人第8号染色体的包含ANGPT1的区域、人第9号染色体的包含PGM5的区域、人第9号染色体的包含TMC1的区域、人第9号染色体的包含ROR2的区域、人第9号染色体的包含PPP6C和/或C9orf126的区域、人第10号染色体的包含GRID1的区域、人第11号染色体的包含11p11.2(包含SPI1和/或SLC39A13和/或PSMC3和/或RAPSN和/或NUP160)的区域、人第11号染色体的包含OR5R1的区域、人第11号染色体的包含MS4A7和/或MS4A14的区域、人第11号染色体的包含MAP6和/或GDPD5和/或SERPINH1的区域、人第11号染色体的包含11q23-24(包含PCSK7和/或RNF214)的区域、人第12号染色体的包含TAOK3的区域、人第12号染色体的包含STX2的区域、人第13号染色体的包含CARS2的区域、人第15号染色体的包含CYP19A1的区域、人第17号染色体的包含CA10的区域、人第18号染色体的包含LOC643542的区域、人第20号染色体的包含PTPRT的区域、人第21号染色体的包含ITSN1的区域、人第2号染色体的包含LRP2的区域、人第11号染色体的包含APIP和/或PDHX的区域、人第12号染色体的包含CUX2的区域、以及人第17号染色体的包含TOM1L1的区域组成的组中选择的至少一个区域中的至少一个多态性位点。
(8)一种载体,其中,含有(7)所述的标志基因的DNA序列。
(9)用(8)所述的载体进行了转化的宿主细胞。
(10)一种多肽的制造方法,其中,包括:
将用含有(7)所述的标志基因的DNA序列的载体转化的宿主细胞进行培养,并从培养物中采集(7)所述的标志基因的DNA序列所编码的多肽。
发明的效果
根据本发明,能够更准确地诊断正常眼压性青光眼。在已发病的患者的情况下能够确诊,从而能够进行积极的治疗。另外,在未发病者的情况下可计算出发病的风险率,因此,对于发病风险率高的未发病患者建议进行多次检查,以便能够早期发现。
本说明书中包含作为本申请的优先权基础的日本专利申请、日本特愿2008-302986和日本特愿2009-59937的说明书和/或附图中记载的内容。
附图说明
图1表示第6号染色体、包含ELOVL5的区域内的各SNP的患者与健康人之间的显著性差异。横轴表示跨度0.5Mb的该区域内基因的位置,纵轴表示作为显著性差异的指标的p值。下方框外显示ELOVL5基因的位置。在该区域中以ELOVL5基因为中心存在p值最大为0.000023的SNP,表明该区域中存在正常眼压性青光眼疾病易感性基因。
图2表示包含候选基因的区域内的各SNP的患者与健康人之间的显著性差异。横轴以Mb表示与该区域内基因的位置关系,纵轴表示作为显著性差异的指标的p值。下方框外显示基因的位置和名称。该区域中以候选基因为中心存在在患者与健康人之间显示显著性差异的SNP,表明该区域中存在正常眼压性青光眼疾病易感性基因。
图3表示包含候选基因的区域内的各SNP的患者与健康人之间的显著性差异。横轴以Mb表示与该区域内基因的位置关系,纵轴表示作为显著性差异的指标的p值。下方框外显示基因的位置和名称。该区域中以候选基因为中心存在在患者与健康人之间显示显著性差异的SNP,表明该区域中存在正常眼压性青光眼疾病易感性基因。
图4表示包含候选基因的区域内的各SNP的患者与健康人之间的显著性差异。横轴以Mb表示与该区域内基因的位置关系,纵轴表示作为显著性差异的指标的p值。下方框外显示基因的位置和名称。该区域中以候选基因为中心存在在患者与健康人之间显示显著性差异的SNP,表明该区域中存在正常眼压性青光眼疾病易感性基因。
图5表示包含候选基因的区域内的各SNP的患者与健康人之间的显著性差异。横轴以Mb表示与该区域内基因的位置关系,纵轴表示作为显著性差异的指标的p值。下方框外显示基因的位置和名称。该区域中以候选基因为中心存在在患者与健康人之间显示显著性差异的SNP,表明该区域中存在正常眼压性青光眼疾病易感性基因。
图6表示包含候选基因的区域内的各SNP的患者与健康人之间的显著性差异。横轴以Mb表示与该区域内基因的位置关系,纵轴表示作为显著性差异的指标的p值。下方框外显示基因的位置和名称。该区域中以候选基因为中心存在在患者与健康人之间显示显著性差异的SNP,表明该区域中存在正常眼压性青光眼疾病易感性基因。
图7表示包含候选基因的区域内的各SNP的患者与健康人之间的显著性差异。横轴以Mb表示与该区域内基因的位置关系,纵轴表示作为显著性差异的指标的p值。下方框外显示基因的位置和名称。该区域中以候选基因为中心存在在患者与健康人之间显示显著性差异的SNP,表明该区域中存在正常眼压性青光眼疾病易感性基因。
图8表示包含候选基因的区域内的各SNP的患者与健康人之间的显著性差异。横轴以Mb表示与该区域内基因的位置关系,纵轴表示作为显著性差异的指标的p值。下方框外显示基因的位置和名称。该区域中以候选基因为中心存在在患者与健康人之间显示显著性差异的SNP,表明该区域中存在正常眼压性青光眼疾病易感性基因。
图9表示包含候选基因的区域内的各SNP的患者与健康人之间的显著性差异。横轴以Mb表示与该区域内基因的位置关系,纵轴表示作为显著性差异的指标的p值。下方框外显示基因的位置和名称。该区域中以候选基因为中心存在在患者与健康人之间显示显著性差异的SNP,表明该区域中存在正常眼压性青光眼疾病易感性基因。
图10表示包含候选基因的区域内的各SNP的患者与健康人之间的显著性差异。横轴以Mb表示与该区域内基因的位置关系,纵轴表示作为显著性差异的指标的p值。下方框外显示基因的位置和名称。该区域中以候选基因为中心存在在患者与健康人之间显示显著性差异的SNP,表明该区域中存在正常眼压性青光眼疾病易感性基因。
图11表示包含候选基因的区域内的各SNP的患者与健康人之间的显著性差异。横轴以Mb表示与该区域内基因的位置关系,纵轴表示作为显著性差异的指标的p值。下方框外显示基因的位置和名称。该区域中以候选基因为中心存在在患者与健康人之间显示显著性差异的SNP,表明该区域中存在正常眼压性青光眼疾病易感性基因。
图12表示包含候选基因的区域内的各SNP的患者与健康人之间的显著性差异。横轴以Mb表示与该区域内基因的位置关系,纵轴表示作为显著性差异的指标的p值。下方框外显示基因的位置和名称。该区域中以候选基因为中心存在在患者与健康人之间显示显著性差异的SNP,表明该区域中存在正常眼压性青光眼疾病易感性基因。
图13表示包含候选基因的区域内的各SNP的患者与健康人之间的显著性差异。横轴以Mb表示与该区域内基因的位置关系,纵轴表示作为显著性差异的指标的p值。下方框外显示基因的位置和名称。该区域中以候选基因为中心存在在患者与健康人之间显示显著性差异的SNP,表明该区域中存在正常眼压性青光眼疾病易感性基因。
图14表示包含候选基因的区域内的各SNP的患者与健康人之间的显著性差异。横轴以Mb表示与该区域内基因的位置关系,纵轴表示作为显著性差异的指标的p值。下方框外显示基因的位置和名称。该区域中以候选基因为中心存在在患者与健康入之间显示显著性差异的SNP,表明该区域中存在正常眼压性青光眼疾病易感性基因。
图15表示包含候选基因的区域内的各SNP的患者与健康人之间的显著性差异。横轴以Mb表示与该区域内基因的位置关系,纵轴表示作为显著性差异的指标的p值。下方框外显示基因的位置和名称。该区域中以候选基因为中心存在在患者与健康人之间显示显著性差异的SNP,表明该区域中存在正常眼压性青光眼疾病易感性基因。
图16表示包含候选基因的区域内的各SNP的患者与健康人之间的显著性差异。横轴以Mb表示与该区域内基因的位置关系,纵轴表示作为显著性差异的指标的p值。下方框外显示基因的位置和名称。该区域中以候选基因为中心存在在患者与健康人之间显示显著性差异的SNP,表明该区域中存在正常眼压性青光眼疾病易感性基因。
图17表示包含候选基因的区域内的各SNP的患者与健康人之间的显著性差异。横轴以Mb表示与该区域内基因的位置关系,纵轴表示作为显著性差异的指标的p值。下方框外显示基因的位置和名称。该区域中以候选基因为中心存在在患者与健康人之间显示显著性差异的SNP,表明该区域中存在正常眼压性青光眼疾病易感性基因。
图18表示包含候选基因的区域内的各SNP的患者与健康人之间的显著性差异。横轴以Mb表示与该区域内基因的位置关系,纵轴表示作为显著性差异的指标的p值。下方框外显示基因的位置和名称。该区域中以候选基因为中心存在在患者与健康人之间显示显著性差异的SNP,表明该区域中存在正常眼压性青光眼疾病易感性基因。
图19表示包含候选基因的区域内的各SNP的患者与健康人之间的显著性差异。横轴以Mb表示与该区域内基因的位置关系,纵轴表示作为显著性差异的指标的p值。下方框外显示基因的位置和名称。该区域中以候选基因为中心存在在患者与健康人之间显示显著性差异的SNP,表明该区域中存在正常眼压性青光眼疾病易感性基因。
图20表示包含候选基因的区域内的各SNP的患者与健康人之间的显著性差异。横轴以Mb表示与该区域内基因的位置关系,纵轴表示作为显著性差异的指标的p值。下方框外显示基因的位置和名称。该区域中以候选基因为中心存在在患者与健康人之间显示显著性差异的SNP,表明该区域中存在正常眼压性青光眼疾病易感性基因。
图21表示包含候选基因的区域内的各SNP的患者与健康人之间的显著性差异。横轴以Mb表示与该区域内基因的位置关系,纵轴表示作为显著性差异的指标的p值。下方框外显示基因的位置和名称。该区域中以候选基因为中心存在在患者与健康人之间显示显著性差异的SNP,表明该区域中存在正常眼压性青光眼疾病易感性基因。
图22表示包含候选基因的区域内的各SNP的患者与健康人之间的显著性差异。横轴以Mb表示与该区域内基因的位置关系,纵轴表示作为显著性差异的指标的p值。下方框外显示基因的位置和名称。该区域中以候选基因为中心存在在患者与健康人之间显示显著性差异的SNP,表明该区域中存在正常眼压性青光眼疾病易感性基因。
图23表示包含候选基因的区域内的各SNP的患者与健康人之间的显著性差异。横轴以Mb表示与该区域内基因的位置关系,纵轴表示作为显著性差异的指标的p值。下方框外显示基因的位置和名称。该区域中以候选基因为中心存在在患者与健康人之间显示显著性差异的SNP,表明该区域中存在正常眼压性青光眼疾病易感性基因。
图24表示包含候选基因的区域内的各SNP的患者与健康人之间的显著性差异。横轴以Mb表示与该区域内基因的位置关系,纵轴表示作为显著性差异的指标的p值。下方框外显示基因的位置和名称。该区域中以候选基因为中心存在在患者与健康人之间显示显著性差异的SNP,表明该区域中存在正常眼压性青光眼疾病易感性基因。
图25表示包含候选基因的区域内的各SNP的患者与健康人之间的显著性差异。横轴以Mb表示与该区域内基因的位置关系,纵轴表示作为显著性差异的指标的p值。下方框外显示基因的位置和名称。该区域中以候选基因为中心存在在患者与健康人之间显示显著性差异的SNP,表明该区域中存在正常眼压性青光眼疾病易感性基因。
图26表示包含候选基因的区域内的各SNP的患者与健康人之间的显著性差异。横轴以Mb表示与该区域内基因的位置关系,纵轴表示作为显著性差异的指标的p值。下方框外显示基因的位置和名称。该区域中以候选基因为中心存在在患者与健康人之间显示显著性差异的SNP,表明该区域中存在正常眼压性青光眼疾病易感性基因。
图27表示包含候选基因的区域内的各SNP的患者与健康人之间的显著性差异。横轴以Mb表示与该区域内基因的位置关系,纵轴表示作为显著性差异的指标的p值。下方框外显示基因的位置和名称。该区域中以候选基因为中心存在在患者与健康人之间显示显著性差异的SNP,表明该区域中存在正常眼压性青光眼疾病易感性基因。
图28表示包含候选基因的区域内的各SNP的患者与健康人之间的显著性差异。横轴以Mb表示与该区域内基因的位置关系,纵轴表示作为显著性差异的指标的p值。下方框外显示基因的位置和名称。该区域中以候选基因为中心存在在患者与健康人之间显示显著性差异的SNP,表明该区域中存在正常眼压性青光眼疾病易感性基因。
图29表示包含候选基因的区域内的各SNP的患者与健康人之间的显著性差异。横轴以Mb表示与该区域内基因的位置关系,纵轴表示作为显著性差异的指标的p值。下方框外显示基因的位置和名称。该区域中以候选基因为中心存在在患者与健康人之间显示显著性差异的SNP,表明该区域中存在正常眼压性青光眼疾病易感性基因。
图30表示包含候选基因的区域内的各SNP的患者与健康人之间的显著性差异。横轴以Mb表示与该区域内基因的位置关系,纵轴表示作为显著性差异的指标的p值。下方框外显示基因的位置和名称。该区域中以候选基因为中心存在在患者与健康人之间显示显著性差异的SNP,表明该区域中存在正常眼压性青光眼疾病易感性基因。
图31表示包含候选基因的区域内的各SNP的患者与健康人之间的显著性差异。横轴以Mb表示与该区域内基因的位置关系,纵轴表示作为显著性差异的指标的p值。下方框外显示基因的位置和名称。该区域中以候选基因为中心存在在患者与健康人之间显示显著性差异的SNP,表明该区域中存在正常眼压性青光眼疾病易感性基因。
图32表示包含候选基因的区域内的各SNP的患者与健康人之间的显著性差异。横轴以Mb表示与该区域内基因的位置关系,纵轴表示作为显著性差异的指标的p值。下方框外显示基因的位置和名称。该区域中以候选基因为中心存在在患者与健康人之间显示显著性差异的SNP,表明该区域中存在正常眼压性青光眼疾病易感性基因。
图33表示包含候选基因的区域内的各SNP的患者与健康人之间的显著性差异。横轴以Mb表示与该区域内基因的位置关系,纵轴表示作为显著性差异的指标的p值。下方框外显示基因的位置和名称。该区域中以候选基因为中心存在在患者与健康人之间显示显著性差异的SNP,表明该区域中存在正常眼压性青光眼疾病易感性基因。
图34表示包含候选基因的区域内的各SNP的患者与健康人之间的显著性差异。横轴以Mb表示与该区域内基因的位置关系,纵轴表示作为显著性差异的指标的p值。下方框外显示基因的位置和名称。该区域中以候选基因为中心存在在患者与健康人之间显示显著性差异的SNP,表明该区域中存在正常眼压性青光眼疾病易感性基因。
图35表示包含候选基因的区域内的各SNP的患者与健康人之间的显著性差异。横轴以Mb表示与该区域内基因的位置关系,纵轴表示作为显著性差异的指标的p值。下方框外显示基因的位置和名称。该区域中以候选基因为中心存在在患者与健康人之间显示显著性差异的SNP,表明该区域中存在正常眼压性青光眼疾病易感性基因。
图36表示包含候选基因的区域内的各SNP的患者与健康人之间的显著性差异。横轴以Mb表示与该区域内基因的位置关系,纵轴表示作为显著性差异的指标的p值。下方框外显示基因的位置和名称。该区域中以候选基因为中心存在在患者与健康人之间显示显著性差异的SNP,表明该区域中存在正常眼压性青光眼疾病易感性基因。
图37表示包含候选基因的区域内的各SNP的患者与健康人之间的显著性差异。横轴以Mb表示与该区域内基因的位置关系,纵轴表示作为显著性差异的指标的p值。下方框外显示基因的位置和名称。该区域中以候选基因为中心存在在患者与健康人之间显示显著性差异的SNP,表明该区域中存在正常眼压性青光眼疾病易感性基因。
图38表示包含候选基因的区域内的各SNP的患者与健康人之间的显著性差异。横轴以Mb表示与该区域内基因的位置关系,纵轴表示作为显著性差异的指标的p值。下方框外显示基因的位置和名称。该区域中以候选基因为中心存在在患者与健康人之间显示显著性差异的SNP,表明该区域中存在正常眼压性青光眼疾病易感性基因。
图39表示包含候选基因的区域内的各SNP的患者与健康人之间的显著性差异。横轴以Mb表示与该区域内基因的位置关系,纵轴表示作为显著性差异的指标的p值。下方框外显示基因的位置和名称。该区域中以候选基因为中心存在在患者与健康人之间显示显著性差异的SNP,表明该区域中存在正常眼压性青光眼疾病易感性基因。
图40表示包含候选基因的区域内的各SNP的患者与健康人之间的显著性差异。横轴以Mb表示与该区域内基因的位置关系,纵轴表示作为显著性差异的指标的p值。下方框外显示基因的位置和名称。该区域中以候选基因为中心存在在患者与健康人之间显示显著性差异的SNP,表明该区域中存在正常眼压性青光眼疾病易感性基因。
图41表示包含候选基因的区域内的各SNP的患者与健康人之间的显著性差异。横轴以Mb表示与该区域内基因的位置关系,纵轴表示作为显著性差异的指标的p值。下方框外显示基因的位置和名称。该区域中以候选基因为中心存在在患者与健康人之间显示显著性差异的SNP,表明该区域中存在正常眼压性青光眼疾病易感性基因。
图42表示包含候选基因的区域内的各SNP的患者与健康人之间的显著性差异。横轴以Mb表示与该区域内基因的位置关系,纵轴表示作为显著性差异的指标的p值。下方框外显示基因的位置和名称。该区域中以候选基因为中心存在在患者与健康人之间显示显著性差异的SNP,表明该区域中存在正常眼压性青光眼疾病易感性基因。
图43表示包含候选基因的区域内的各SNP的患者与健康人之间的显著性差异。横轴以Mb表示与该区域内基因的位置关系,纵轴表示作为显著性差异的指标的p值。下方框外显示基因的位置和名称。该区域中以候选基因为中心存在在患者与健康人之间显示显著性差异的SNP,表明该区域中存在正常眼压性青光眼疾病易感性基因。
图44表示包含候选基因的区域内的各SNP的患者与健康人之间的显著性差异。横轴以Mb表示与该区域内基因的位置关系,纵轴表示作为显著性差异的指标的p值。下方框外显示基因的位置和名称。该区域中以候选基因为中心存在在患者与健康人之间显示显著性差异的SNP,表明该区域中存在正常眼压性青光眼疾病易感性基因。
图45表示包含候选基因的区域内的各SNP的患者与健康人之间的显著性差异。横轴以Mb表示与该区域内基因的位置关系,纵轴表示作为显著性差异的指标的p值。下方框外显示基因的位置和名称。该区域中以候选基因为中心存在在患者与健康人之间显示显著性差异的SNP,表明该区域中存在正常眼压性青光眼疾病易感性基因。
图46表示包含候选基因的区域内的各SNP的患者与健康人之间的显著性差异。横轴以Mb表示与该区域内基因的位置关系,纵轴表示作为显著性差异的指标的p值。下方框外显示基因的位置和名称。该区域中以候选基因为中心存在在患者与健康人之间显示显著性差异的SNP,表明该区域中存在正常眼压性青光眼疾病易感性基因。
图47表示包含候选基因的区域内的各SNP的患者与健康人之间的显著性差异。横轴以Mb表示与该区域内基因的位置关系,纵轴表示作为显著性差异的指标的p值。下方框外显示基因的位置和名称。该区域中以候选基因为中心存在在患者与健康人之间显示显著性差异的SNP,表明该区域中存在正常眼压性青光眼疾病易感性基因。
图48表示包含候选基因的区域内的各SNP的患者与健康人之间的显著性差异。横轴以Mb表示与该区域内基因的位置关系,纵轴表示作为显著性差异的指标的p值。下方框外显示基因的位置和名称。该区域中以候选基因为中心存在在患者与健康人之间显示显著性差异的SNP,表明该区域中存在正常眼压性青光眼疾病易感性基因。
图49表示包含候选基因的区域内的各SNP的患者与健康人之间的显著性差异。横轴以Mb表示与该区域内基因的位置关系,纵轴表示作为显著性差异的指标的p值。下方框外显示基因的位置和名称。该区域中以候选基因为中心存在在患者与健康人之间显示显著性差异的SNP,表明该区域中存在正常眼压性青光眼疾病易感性基因。
图50表示包含候选基因的区域内的各SNP的患者与健康人之间的显著性差异。横轴以Mb表示与该区域内基因的位置关系,纵轴表示作为显著性差异的指标的p值。下方框外显示基因的位置和名称。该区域中以候选基因为中心存在在患者与健康人之间显示显著性差异的SNP,表明该区域中存在正常眼压性青光眼疾病易感性基因。
图51表示包含候选基因的区域内的各SNP的患者与健康人之间的显著性差异。横轴以Mb表示与该区域内基因的位置关系,纵轴表示作为显著性差异的指标的p值。下方框外显示基因的位置和名称。该区域中以候选基因为中心存在在患者与健康人之间显示显著性差异的SNP,表明该区域中存在正常眼压性青光眼疾病易感性基因。
图52表示包含候选基因的区域内的各SNP的患者与健康人之间的显著性差异。横轴以Mb表示与该区域内基因的位置关系,纵轴表示作为显著性差异的指标的p值。下方框外显示基因的位置和名称。该区域中以候选基因为中心存在在患者与健康人之间显示显著性差异的SNP,表明该区域中存在正常眼压性青光眼疾病易感性基因。
图53表示包含候选基因的区域内的各SNP的患者与健康人之间的显著性差异。横轴以Mb表示与该区域内基因的位置关系,纵轴表示作为显著性差异的指标的p值。下方框外显示基因的位置和名称。该区域中以候选基因为中心存在在患者与健康人之间显示显著性差异的SNP,表明该区域中存在正常眼压性青光眼疾病易感性基因。
具体实施方式
以下,对本发明的实施方式进行更详细的说明。
本发明人查明,与正常眼压性青光眼相关的基因(正常眼压性青光眼疾病易感性基因)存在于人第6号染色体的包含ELOVL5的区域、人第2号染色体的包含SRBD1的区域、人第3号染色体的包含ARPP-21的区域、人第4号染色体的包含EPHA5的区域、人第6号染色体的包含GMDS的区域、人第6号染色体的包含6p21.3(包含HSPA1B)的区域、人第6号染色体的包含SYTL3的区域、人第7号染色体的包含NXPH1的区域、人第7号染色体的包含LHFPL3的区域、人第11号染色体的包含GLB1L3的区域、人第18号染色体的包含ZNF407的区域、人第1号染色体的包含PAX7的区域、人第1号染色体的包含PTPRF的区域、人第1号染色体的包含1q12-q21.1(包含CHD1L和/或FMO5)的区域、人第1号染色体的包含1q21.2-q21.3(包含FDPS和/或ASH1L和/或KCNN3)的区域、人第1号染色体的包含FAM5B和/或ASTN1的区域、人第1号染色体的包含PKP1的区域、人第2号染色体的包含KLHL29和/或FLJ14126的区域、人第3号染色体的包含THRB的区域、人第3号染色体的包含MED12L和/或CLRN10S和/或GPR171的区域、人第4号染色体的包含SORBS2的区域、人第5号染色体的包含MAST4的区域、人第5号染色体的包含GLRX和/或C5orf27的区域、人第5号染色体的包含EBF1的区域、人第5号染色体的包含DOCK2的区域、人第6号染色体的包含6p21.31-p21.3(包含HLA-DPA1)的区域、人第6号染色体的包含LOC100132919的区域、人第7号染色体的包含AAA1和/或NPSR1的区域、人第7号染色体的包含ELMO1的区域、人第8号染色体的包含TNKS的区域、人第8号染色体的包含ANGPT1的区域、人第9号染色体的包含PGM5的区域、人第9号染色体的包含TMC1的区域、人第9号染色体的包含ROR2的区域、人第9号染色体的包含PPP6C和/或C9orf126的区域、人第10号染色体的包含GRID1的区域、人第11号染色体的包含11p11.2(包含SPI1和/或SLC39A13和/或PSMC3和/或RAPSN和/或NUP160)的区域、人第11号染色体的包含OR5R1的区域、人第11号染色体的包含MS4A7和/或MS4A14的区域、人第11号染色体的包含MAP6和/或GDPD5和/或SERPINH1的区域、人第11号染色体的包含11q23-24(包含PCSK7和/或RNF214)的区域、人第12号染色体的包含TAOK3的区域、人第12号染色体的包含STX2的区域、人第13号染色体的包含CARS2的区域、人第15号染色体的包含CYP19A1的区域、人第17号染色体的包含CA10的区域、人第18号染色体的包含LOC643542的区域、人第20号染色体的包含PTPRT的区域、人第21号染色体的包含ITSN1的区域、人第2号染色体的包含LRP2的区域、人第11号染色体的包含APIP和/或PDHX的区域、人第12号染色体的包含CUX2的区域、以及人第17号染色体的包含TOM1L1的区域。对于正常眼压性青光眼的患者,可在该基因上发现显著性突变,因此通过考察该基因上有无突变,可以检查被检者是否为正常眼压性青光眼,并且可以进行发病风险率的预测。
本发明提供一种正常眼压性青光眼的检查方法,其中,包括对多态性位点的碱基进行鉴定,所述多态性位点为选自由人第6号染色体的包含ELOVL5的区域、人第2号染色体的包含SRBD1的区域、人第3号染色体的包含ARPP-21的区域、人第4号染色体的包含EPHA5的区域、人第6号染色体的包含GMDS的区域、人第6号染色体的包含6p21.3(包含HSPA1B)的区域、人第6号染色体的包含SYTL3的区域、人第7号染色体的包含NXPH1的区域、人第7号染色体的包含LHFPL3的区域、人第11号染色体的包含GLB1L3的区域、人第18号染色体的包含ZNF407的区域、人第1号染色体的包含PAX7的区域、人第1号染色体的包含PTPRF的区域、人第1号染色体的包含1q12-q21.1(包含CHD1L和/或FMO5)的区域、人第1号染色体的包含1q21.2-q21.3(包含FDPS和/或ASH1L和/或KCNN3)的区域、人第1号染色体的包含FAM5B和/或ASTN1的区域、人第1号染色体的包含PKP1的区域、人第2号染色体的包含KLHL29和/或FLJ14126的区域、人第3号染色体的包含THRB的区域、人第3号染色体的包含MED12L和/或CLRN10S和/或GPR171的区域、人第4号染色体的包含SORBS2的区域、人第5号染色体的包含MAST4的区域、人第5号染色体的包含GLRX和/或C5orf27的区域、人第5号染色体的包含EBF1的区域、人第5号染色体的包含DOCK2的区域、人第6号染色体的包含6p21.31-p21.3(包含HLA-DPA1)的区域、人第6号染色体的包含LOC100132919的区域、人第7号染色体的包含AAA1和/或NPSR1的区域、人第7号染色体的包含ELMO1的区域、人第8号染色体的包含TNKS的区域、人第8号染色体的包含ANGPT1的区域、人第9号染色体的包含PGM5的区域、人第9号染色体的包含TMC1的区域、人第9号染色体的包含ROR2的区域、人第9号染色体的包含PPP6C和/或C9orf126的区域、人第10号染色体的包含GRID1的区域、人第11号染色体的包含11p11.2(包含SPI1和/或SLC39A13和/或PSMC3和/或RAPSN和/或NUP160)的区域、人第11号染色体的包含OR5R1的区域、人第11号染色体的包含MS4A7和/或MS4A14的区域、人第11号染色体的包含MAP6和/或GDPD5和/或SERPINH1的区域、人第11号染色体的包含11q23-24(包含PCSK7和/或RNF214)的区域、人第12号染色体的包含TAOK3的区域、人第12号染色体的包含STX2的区域、人第13号染色体的包含CARS2的区域、人第15号染色体的包含CYP19A1的区域、人第17号染色体的包含CA10的区域、人第18号染色体的包含LOC643542的区域、人第20号染色体的包含PTPRT的区域、人第21号染色体的包含ITSN1的区域、人第2号染色体的包含LRP2的区域、人第11号染色体的包含APIP和/或PDHX的区域、人第12号染色体的包含CUX2的区域、以及人第17号染色体的包含TOM1L1的区域组成的组中的至少一个区域中的至少一个多态性位点。
本发明中,多态性位点只要在正常眼压性青光眼患者和健康人之间显示出显著性差异即可,优选作为正常眼压性青光眼患者与健康人之间的显著性差异的指标的p值更小的多态性位点。例如,如果p值小于0.05,则从一般看法上可以判断在生物学上明显有用。人第6号染色体的包含ELOVL5的区域、人第2号染色体的包含SRBD1的区域、人第3号染色体的包含ARPP-21的区域、人第4号染色体的包含EPHA5的区域、人第6号染色体的包含GMDS的区域、人第6号染色体的包含6p21.3(包含HSPA1B)的区域、人第6号染色体的包含SYTL3的区域、人第7号染色体的包含NXPH1的区域、人第7号染色体的包含LHFPL3的区域、人第11号染色体的包含GLB1L3的区域、人第18号染色体的包含ZNF407的区域、人第1号染色体的包含PAX7的区域、人第1号染色体的包含PTPRF的区域、人第1号染色体的包含1q12-q21.1(包含CHD1L和/或FMO5)的区域、人第1号染色体的包含1q21.2-q21.3(包含FDPS和/或ASH1L和/或KCNN3)的区域、人第1号染色体的包含FAM5B和/或ASTN1的区域、人第1号染色体的包含PKP1的区域、人第2号染色体的包含KLHL29和/或FLJ14126的区域、人第3号染色体的包含THRB的区域、人第3号染色体的包含MED12L和/或CLRN10S和/或GPR171的区域、人第4号染色体的包含SORBS2的区域、人第5号染色体的包含MAST4的区域、人第5号染色体的包含GLRX和/或C5orf27的区域、人第5号染色体的包含EBF1的区域、人第5号染色体的包含DOCK2的区域、人第6号染色体的包含6p21.31-p21.3(包含HLA-DPA1)的区域、人第6号染色体的包含LOC100132919的区域、人第7号染色体的包含AAA1和/或NPSR1的区域、人第7号染色体的包含ELMO1的区域、人第8号染色体的包含TNKS的区域、人第8号染色体的包含ANGPT1的区域、人第9号染色体的包含PGM5的区域、人第9号染色体的包含TMC1的区域、人第9号染色体的包含ROR2的区域、人第9号染色体的包含PPP6C和/或C9orf126的区域、人第10号染色体的包含GRID1的区域、人第11号染色体的包含11p11.2(包含SPI1和/或SLC39A13和/或PSMC3和/或RAPSN和/或NUP160)的区域、人第11号染色体的包含OR5R1的区域、人第11号染色体的包含MS4A7和/或MS4A14的区域、人第11号染色体的包含MAP6和/或GDPD5和/或SERPINH1的区域、人第11号染色体的包含11q23-24(包含PCSK7和/或RNF214)的区域、人第12号染色体的包含TAOK3的区域、人第12号染色体的包含STX2的区域、人第13号染色体的包含CARS2的区域、人第15号染色体的包含CYP19A1的区域、人第17号染色体的包含CA10的区域、人第18号染色体的包含LOC643542的区域、人第20号染色体的包含PTPRT的区域、人第21号染色体的包含ITSN1的区域、人第2号染色体的包含LRP2的区域、人第11号染色体的包含APIP和/或PDHX的区域、人第12号染色体的包含CUX2的区域、以及人第17号染色体的包含TOM1L1的区域中的多态性位点和p值示于后述的表1~53。可以从这些表中找出上述区域内的多态性位点中,作为正常眼压性青光眼患者与健康人之间的显著性差异的指标的p值小于0.05的多态性位点。
作为人第6号染色体的包含ELOVL5的区域中的多态性位点,可以例示单核苷酸多态性国际编号rs222450、rs9474394、rs2816344、rs2816341、rs2518579、rs2518578、rs9367511、rs6915699、rs6930045、rs9370188、rs9382180、rs9382181、rs4486010、rs2816379、rs6939730、rs2817088、rs2817090、rs2816372、rs2562895、rs2816364、rs2562893、rs2817101、rs2816362、rs2816356、rs10948744、rs12183976、rs2562898、rs735860、rs715441、rs2057024、rs1429146、rs9463895、rs2235723、rs1346603、rs9474476、rs2294867、rs9349660、rs974323、rs6909592、rs9367520、rs9395854、rs209485、rs9395856、rs7747926、rs7738788、rs209500、rs9357760、rs9370196、rs209512、rs209517、rs9370201、rs9367529、rs 12209741、rs7744451、rs6904083、rs6904376、rs9367532、rs2067833、rs9382212、rs2139077、rs2397146、rs7742367、rs9474576、rs622447、rs3736729、rs13212365、rs761141等,但不限于这些。
作为人第2号染色体的包含SRBD1的区域中的多态性位点,可以例示单核苷酸多态性国际编号rs11686431、rs7580559、rs3908093、rs2343412、rs12623996、rs7573149、rs918810、rs6721199、rs7579209、rs10194925、rs17033378、rs2343466、rs17033398、rs6737172、rs4953226、rs3851333、rs12473388、rs11681887、rs35608719、rs11888802、rs11678872、rs2343468、rs13003019、rs6760244、rs12471726、rs2081297、rs10460504、rs7562458、rs4953230、rs4952763、rs6719211、rs1014454、rs3755070、rs3213787、rs10210691、rs3770251、rs4455206、rs3755076、rs3770254、rs11125017、rs3770264、rs10205197、rs10427308、rs17033745、rs3770278、rs17322370、rs6736954、rs10427402、rs4476395、rs13023749、rs17033801、rs755652、rs748573、rs6708810、rs6710581、rs12712945、rs17033871、rs3755082、rs6544840、rs7599740、rs11884064、rs7596942、rs7565326、rs17323037、rs1916231、rs1517001、rs1522988、rs614281、rs582213、rs650508、rs666334、rs17033965、rs556650、rs2204204、rs3795863、rs2285024、rs505310、rs10490342、rs612717、rs10490341、rs656823、rs563601、rs609573、rs6746467、rs637889、rs10495926、rs1522986、rs1522987、rs6544843、rs6724488等,但不限于这些。
作为人第3号染色体的包含ARPP-21的区域中的多态性位点,可以例示单核苷酸多态性国际编号rs1523048、rs1523029、rs12487524、rs1403468、rs872133、rs1523040、rs1523041、rs13069451、rs12629480、rs1357449、rs6801949、rs17033355、rs9873254、rs9839823、rs6794354、rs6794373、rs12637211、rs9855328、rs2037538、rs2037539、rs1523038、rs11718271、rs1608314、rs2197728、rs9311101、rs10490870、rs17033506、rs12634096、rs2359774、rs9860326、rs4678788、rs3213953、rs6799641、rs17201627、rs4678789、rs12632607、rs11129660、rs11129662、rs17033672、rs17280201、rs6779091、rs3772395、rs9872664、rs1963934、rs35102908、rs4678802、rs4678803、rs6550367、rs17033738、rs6801590、rs17033748、rs9865772、rs17033755、rs17228111、rs2016955、rs2016975、rs735353、rs11920715、rs1378481、rs17814981、rs1455489、rs4678509、rs10510667、rs6799649、rs6799609、rs17033836、rs4234248、rs6770245、rs10865865、rs7615307、rs9845811、rs17033961、rs1488092、rs10461001、rs17033999等,但不限于这些。
作为人第4号染色体的包含EPHA5的区域中的多态性位点,可以例示单核苷酸多态性国际编号rs371925、rs4241661、rs170654、rs1514271、rs2063419、rs13102419、rs11131589、rs2167320、rs1159057、rs12501311、rs17086016、rs961489、rs7684130、rs3749526、rs4860651、rs11938753、rs1376417、rs10025570、rs1376416、rs2084682、rs7658065、rs9312144、rs1376412、rs17086181、rs17086185、rs6847413、rs2198103、rs12509018、rs17082122、rs6823779、rs17086224、rs1451170、rs4289492、rs4371663、rs9986026、rs9991256、rs4267782、rs7660334、rs6815080、rs11737314、rs4365778、rs7673091、rs4320185、rs4604104、rs7684022、rs4860679、rs6844942、rs12644315、rs4599467、rs6834811、rs4320186、rs4487412、rs7667410、rs4611975、rs4370201、rs4438803、rs4608860等,但不限于这些。
作为人第6号染色体的包含GMDS的区域中的多态性位点,可以例示单核苷酸多态性国际编号rs11966212、rs2143396、rs6911992、rs9378593、rs9392253、rs9378594、rs2050158、rs9391900、rs6596786、rs2235706、rs9378596、rs1997773、rs6926322、rs7754106、rs7750178、rs742520、rs2210370、rs6940618、rs349100、rs9405444、rs6932005、rs4959523、rs10484953、rs464778、rs115705、rs1013185、rs11242672、rs463641、rs4959525、rs369656、rs459162、rs127091、rs4959530、rs463264、rs7757477、rs448915、rs444018、rs443971、rs9391913、rs238048、rs238050、rs9378605、rs2459602、rs2438074、rs12191625、rs2438077、rs2496292、rs2496301、rs2438083、rs977674、rs977673、rs17259747、rs1437288、rs7772349、rs6596805、rs1347656、rs6925983、rs1550199、rs11242676、rs7744559、rs11966550、rs9378290、rs9405136、rs9405470、rs9392285、rs9405137、rs9405471、rs746095、rs9378623、rs9378292、rs1711957、rs7742720、rs9378629、rs7741690、rs9328052、rs9328053、rs1922938、rs2745636、rs2816242、rs932410、rs1474721、rs9392296、rs9502950、rs6907725、rs9405484、rs4443540、rs4355648、rs9328058、rs9328059、rs2569866、rs6935712、rs6935896、rs6937266、rs6925228、rs11242704、rs2816286、rs2816287、rs6596833、rs2317965、rs2873591、rs2569835、rs2745567、rs2493160、rs2317966、rs9392305、rs9501738、rs2569839、rs9328061、rs9378300、rs2816221、rs6916316、rs2281272、rs2569824、rs9405496、rs1810496、rs2814827、rs7759035、rs9502997、rs2814811、rs2317964、rs9378304、rs2569854、rs12206340、rs4538755、rs9378305、rs9503011、rs9405505、rs9503015、rs9501762、rs9405506、rs12197419、rs7765344、rs7765461、rs1013303、rs3800046、rs689035、rs2318108、rs6919059、rs6928276、rs226456、rs9378314、rs1157673、rs1157675、rs9391933、rs9328071、rs3778533、rs1028714、rs3800094、rs3778539、rs6596857、rs7776397、rs6596858、rs9378661、rs3823279、rs3800122、rs10484693、rs17772389、rs4959160、rs3778555、rs4463305、rs3800140、rs17134506、rs3800142、rs3800143、rs3800144、rs3800146、rs2761234、rs9405156、rs17134549、rs1408002、rs1830733、rs1830734、rs10223785、rs9405157、rs7772545、rs6596866、rs4959621、rs4412249、rs4367413、rs11242729、rs6925298、rs12212324、rs9392353、rs11242730、rs4580917、rs6910252、rs11242733、rs9503080、rs11242735、rs476594、rs9378676、rs676015、rs2026446、rs4959631、rs17134693、rs3800156、rs11242740、rs4959635、rs3800159、rs3778557、rs3800168、rs4959642、rs234930、rs9392372、rs234915、rs234914、rs3800184、rs234932、rs6903476、rs3778568、rs9405550、rs17134819、rs3823287、rs1196396、rs1684153、rs9328087、rs2479003、rs2479004、rs2505678、rs2479008、rs2505674、rs7766115、rs4959648、rs4413658、rs7449538、rs9503158、rs6902556、rs6925653、rs4281006、rs12210286、rs12213061、rs4959663、rs9501836、rs6911665、rs13200914、rs17135028、rs4959184、rs11242770、rs9328099、rs12206851、rs6904395、rs 17609498、rs742487、rs4959185、rs9391949、rs9391950、rs6899721、rs1610416、rs3924452、rs10458144、rs9501850、rs9503199、rs4959677、rs35374935、rs2449448、rs1772982、rs1680885、rs2794569、rs2624936、rs12196957、rs2624933、rs1773000、rs1773001、rs1614248、rs1616044、rs2624917、rs2624916、rs6899711等,但不限于这些。
作为人第6号染色体的包含6p21.3(包含HSPA1B)的区域中的多态性位点,可以例示单核苷酸多态性国际编号rs2248373、rs2248459、rs2248462、rs2248617、rs3749946、rs2523650、rs2904776、rs2516422、rs2905747、rs9267247、rs2395034、rs3095229、rs3131631、rs2516486、rs2734573、rs3115537、rs2516478、rs2071593、rs3219183、rs13215091、rs1799964、rs1052248、rs9348876、rs2857697、rs2736172、rs1046089、rs2255741、rs760293、rs2077102、rs3130048、rs2844463、rs805301、rs805300、rs805297、rs707921、rs2242655、rs707974、rs805268、rs805267、rs9378164、rs707918、rs805292、rs2299851、rs707939、rs707937、rs480092、rs2075800、rs2763979、rs11965547、rs486416、rs644045、rs537160、rs2072633、rs522162、rs550513、rs9296003、rs406936、rs492899等,但不限于这些。
作为人第6号染色体的包含SYTL3的区域中的多态性位点,可以例示单核苷酸多态性国际编号rs602698、rs678116、rs649930、rs643677、rs592698、rs675053、rs612557、rs629364、rs627967、rs628203、rs2771425、rs9355655、rs10499309、rs1041566、rs12530454、rs7753885、rs9347236、rs6455585、rs6931414、rs10447366、rs9457403、rs9355246、rs4709219、rs4708797、rs4709226、rs4709235、rs6925091、rs3799195、rs6913912、rs894124、rs6903405、rs6901469、rs9364496、rs7759006、rs6455600、rs2129209、rs6455601、rs9456350、rs3123094、rs9456352、rs3102970、rs6455604、rs3127188、rs3127194、rs3127196、rs3102966、rs3127168、rs923198、rs6924755、rs2361472、rs4569991、rs9457516、rs9456363、rs9365009、rs3923902、rs12207795等,但不限于这些。
作为人第7号染色体的包含NXPH1的区域中的多态性位点,可以例示单核苷酸多态性国际编号rs3807826、rs7802863、rs3757521、rs3757520、rs3807823、rs1861032、rs17145870、rs7805508、rs6977682、rs3807815、rs1008038、rs3807811、rs11769978、rs3779356、rs3807807、rs3807806、rs7455929、rs6463790、rs4620183、rs12668479、rs17147407、rs11762595、rs12702719、rs17147608、rs12154895、rs17403198、rs16873367、rs42949、rs2349188、rs6463805、rs7811039、rs10247446、rs10270530、rs7795595、rs6945018、rs17148966、rs1476623、rs10246412、rs17404198、rs6463813、rs17149337、rs17404218、rs11976158、rs10244689、rs6978212、rs757704、rs2214694、rs2189904、rs765855、rs17150199、rs10261060、rs4401754、rs10266489、rs5018942、rs4556000、rs10278603、rs7787432、rs6959052、rs17150410、rs17150472、rs17150479、rs17150761、rs10237485、rs4720785、rs972247、rs1859274、rs10238726、rs6970999、rs17151821、rs7456267、rs6963180、rs10257265、rs970526、rs977458、rs13240427、rs17154007、以及NCBI(v36.1)8484291等,但不限于这些。
作为人第7号染色体的包含LHFPL3的区域中的多态性位点,可以例示单核苷酸多态性国际编号rs41521、rs2188486、rs977641、rs17389507、rs10274138、rs17136882、rs13234807、rs7794181、rs7787988、rs7787976、rs17331134、rs1557689、rs6465984、rs7798273、rs2188494、rs1468143、rs10953427、rs2214087、rs4730006、rs6952170、rs17137313、rs4727599、rs17137382、rs10228106、rs42181、rs4730010、rs11763758、rs17137711、rs11763095、rs6977743、rs4520098、rs10216261、rs11972050、rs12539136、rs756669、rs41037、rs41038、rs28253、rs41058、rs9649272、rs6949801、rs9987005、rs6465994、rs6465995、rs1477110、rs12216618、rs10254402、rs6969323、rs9641335、rs10272959、rs3919550、rs4730030、rs10246540、rs4730031、rs2891730、rs995661、rs10487221、rs10487222、rs11773248、rs11983223、rs6943307、rs7782065、rs7801387、rs12705261、rs12531723、rs17269890、rs4730038、rs4584085、rs10216010、rs17141284、rs17141299、rs10953450、rs6466018、rs4530975、rs12705276、rs4283980和rs2470965、NCBI(v36.1)103849313、104068646和104196627等,但不限于这些。
作为人第11号染色体的包含GLB1L3的区域中的多态性位点,可以例示单核苷酸多态性国际编号rs11223704、rs470713、rs470935、rs641024、rs11606866、rs7131644、rs10894784、rs1031381、rs522134、rs4362160、rs473041、rs498602、rs554874、rs1144225、rs1595895、rs1146192、rs4936229、rs1144219、rs2510356、rs553231、rs512359、rs568044、rs10894798、rs10894799、rs11223765、rs10894800、rs7940114、rs10894801、rs10791357、rs3741100、rs3741098、rs7113199、rs1866769、rs1866768、rs1561613等,但不限于这些。
作为人第18号染色体的包含ZNF407的区域中的多态性位点,可以例示单核苷酸多态性国际编号rs3794941、rs17055278、rs514931、rs494721、rs17055426、rs2896769、rs12717033、rs7227977、rs10871527、rs10514139、rs17832851、rs17055756、rs1473224、rs2628125、rs8085262、rs8089151、rs2628123、rs4891199、rs17055919、rs10514148、rs17055185、rs2404482、rs10514149、rs4337381、rs2959165、rs12456768、rs4891217、rs9945585、rs9961644、rs9961742、rs9952375、rs13381156、rs9319675、rs2120144、rs8096648、rs17056218、rs2289609、rs4891228、rs1396098、rs894575、rs10871567、rs7242893、rs7239800等,但不限于这些。
作为人第1号染色体的包含PAX7的区域中的多态性位点,可以例示单核苷酸多态性国际编号rs3000058、rs2816030、rs16862061、rs2816040、rs2816046、rs4920334、rs4920516、rs4920335、rs2816064、rs6704504、rs1934057、rs2298893、rs2743208、rs2076021、rs2076020、rs2236826、rs2282704、rs2282699、rs624761、rs851123、rs2236817、rs685300、rs2056446、rs2841078、rs4920344、rs6669544、rs4076925、rs6603910、rs11261070、rs7539659、rs11261074、rs7411058、rs4920545、rs6684577、rs12565195等,但不限于这些。
作为人第1号染色体的包含PTPRF的区域中的多态性位点,可以例示单核苷酸多态性国际编号rs2494997、rs1999674、rs2842180、rs2255632、rs2251804、rs1334973、rs6687571、rs2039528、rs2819341、rs10890251、rs2367617、rs11210864、rs2782641、rs11210871、rs10890257、rs12058744、rs11210879、rs11210886、rs516790、rs641365、rs673485、rs643445、rs10789438、rs11210892、rs617521、rs660899、rs2274465、rs10789439、rs489319、rs607062、rs10789442和rs3791035、NCBI(v36.1)43760103等,但不限于这些。
作为人第1号染色体的包含1q12-q21.1(包含CHD1L和/或FMO5)的区域中的多态性位点,可以例示单核苷酸多态性国际编号rs2355388、rs6686200、rs12122453、rs12122534、rs4950474、rs4950475、rs6593810、rs6657631、rs21327、rs517201、rs575115、rs2031481、rs2477568、rs2477569、rs692963、rs535827、rs4950361、rs6593732、rs17359526、rs6693631、rs11811023、rs4950371、rs2304893、rs6593739、rs7525703、rs2883434、rs2077749、rs17159914、rs6593745、rs2120003、rs10900325、rs2354432、rs6670503、rs1470261、rs6703187、rs10793652、rs7537483、rs7537703、rs1890038、rs3820130、rs3737845、rs17160062、rs3766525、rs4950315、rs17356240、rs10494244、rs6683839、rs10793656、rs17360443、rs3753433、rs12033407、rs7554833、rs10793661、rs10736837、rs10900336、rs7520661、rs4950409、rs2353983、rs6658836、rs17360812、rs6656156、rs12759145、rs12049491、rs10793682、rs4950431、rs7539416、rs2353969、rs4504949、rs17160205、rs2353967、rs12728058、rs6688308、rs11589438、rs6688154、rs6678706、rs4950436、rs7519891、rs11240053、rs11240054、rs11240055、rs7556087、rs7518276、rs2644579、rs2353951、rs2644577、rs6674761、rs2644566、rs2803535、rs17160256、rs12406844、rs17160264、rs612963、rs586000、rs17160295、rs644550、rs17160305等,但不限于这些。
作为人第1号染色体的包含1q21.2-q21.3(包含FDPS和/或ASH1L和/或KCNN3)的区域中的多态性位点,可以例示单核苷酸多态性国际编号rs10752613、rs11583896、rs16835600、rs4434872、rs4567311、rs4363451、rs9427232、rs4845576、rs4520447、rs4845578、rs11585416、rs4845584、rs12033835、rs11581644、rs10908557、rs6701341、rs2297898、rs12048137、rs11264875、rs2066134、rs2494663、rs6671166、rs4845600、rs16835819、rs4521985、rs4620534、rs9803857、rs11265310、rs2340473、rs1194596、rs1212352、rs6672010、rs6702754、rs2274988、rs2297607、rs4414034、rs6696089、rs11265607、rs6427631、rs6427658、rs6694817、rs4537545、rs4845626、rs11265618、rs10752641、rs4240872、rs4474240、rs6700296、rs11265627、rs6691727、rs6687112、rs6427716、rs12136771、rs7553602、rs6660775、rs1127314、rs1127313、rs2131902、rs2229857、rs3766923、rs3766922、rs12125166、rs2335230、rs7531982、rs7533471、rs11264233、rs10796927、rs2335252、rs2036627、rs6699979、rs1995662、rs6664817、rs11264249、rs6426905、rs960182、rs16836320、rs868108、rs4845390、rs10494300、rs1051614、rs6666341、rs11808053、rs883319、rs1777910、rs951240v、rs951241、rs9970364、rs1984285、rs6681725、rs16836414、rs10796934、rs10908445、rs4845678、rs4845679、rs4845681、rs12130132、rs10908448、rs4845690、rs4845406、rs10908455、rs7368345、rs10908456、rs4971079、rs4276913、rs11264339、rs3768566、rs11264345、rs7520184、rs12032720、rs11264359、rs11264363、rs5005770、rs1325908、rs11264375、rs475550、rs821551、rs822490、rs822519、rs822508、rs1749405、rs1749409、rs572609、rs3768280、rs2275078、rs2016251、rs1475766、rs12035615、rs4661146、rs6700693、rs10908489、rs11264449、rs2253677、rs2241110、rs2853641、rs2075163、rs2241107、rs1052053、rs1052067、rs759330、rs7542798、rs2253358、rs2842880、rs16837272、rs2287023、rs2246476、rs2248273、rs11264467、rs7522860、rs10908500、rs10494304、rs3795730、rs3762281、rs35478936、rs2274226、rs2985714、rs2842854、rs954916、rs6686886、rs11590409、rs4661040、rs7551781、rs16837376、rs11806983、rs1109751、rs11264486、rs3790458、rs1342442、rs12136856、rs10159180、rs1171564、rs1609666、rs728918、rs11264495、rs744224、rs4661184、rs879461、rs12742817、rs3795736、rs2236601、rs1046650、rs3795737等,但不限于这些。
作为人第1号染色体的包含FAM5B和/或ASTN1的区域中的多态性位点,可以例示单核苷酸多态性国际编号rs7521610、rs16850728、rs227521、rs227519、rs10047146、rs10489307、rs972484、rs1402640、rs10913291、rs12094495、rs10798503、rs6425414、rs7515582、rs10913294、rs7534953、rs10913295、rs725416、rs12090000、rs12564343、rs12031932、rs12079554、rs554454、rs6660903、rs10913300、rs760689、rs6683060、rs926319、rs6699955、rs10798508、rs2139876、rs16851037、rs17315298、rs2861972、rs1883243、rs6660559、rs4652245、rs4140633、rs7528533、rs3946142、rs6658794、rs9425456、rs6672376、rs12025407等,但不限于这些。
作为人第1号染色体的包含PKP1的区域中的多态性位点,可以例示单核苷酸多态性国际编号rs1122396、rs1722755、rs6413916、rs831771、rs1404401、rs831767、rs16847944、rs831765、rs16847947、rs831764、rs16847951、rs831762、rs831753、rs16847994、rs831751、rs4915220、rs10157719、rs947379、rs12466、rs1592085、rs4915499、rs12134467、rs10158798、rs1954214、rs12046907、rs10920161、rs12117501、rs1997018、rs1880450、rs1857489、rs16848184、rs868381、rs854488、rs832169、rs832174、rs700469、rs860554、rs1779301、rs2300293、rs2268156、rs832147、rs854502、rs1722780、rs1779293、rs854505、rs1572968、rs17425876、rs12143423、rs947377、rs10753899、rs17459837、rs6427900、rs1122481、rs2275862、rs11806184、rs2365652、rs2275860、rs947485、rs6671391、rs1256941、rs10800779、rs7553988、rs10920205、rs3887566、rs3888929、rs6427908、rs12090950等,但不限于这些。
作为人第2号染色体的包含KLHL29和/或FLJ14126的区域中的多态性位点,可以例示单核苷酸多态性国际编号rs2577720、rs2723120、rs10495742、rs2577717、rs6720565、rs12053097、rs12613333、rs7566157、rs17045229、rs875077、rs17045238、rs2723129、rs2577698、rs2954818、rs12989910、rs11125011、rs6742888、rs7564616、rs2723111、rs6544822、rs893430、rs737564、rs737565、rs747344、rs6727901、rs7570872、rs17045350、rs6544861、rs6756357、rs4665214、rs10172684、rs1653748、rs1465677、rs1864807、rs1864808、rs4665218、rs10169643、rs1368080、rs10490750、rs11677730、rs7601971、rs1653751、rs1653753、rs1368081、rs11678782、rs11678785、rs4497835、rs1653780、rs17445645、rs4665223、rs4284788、rs4665612、rs1709339、rs6544949rs 17045574、rs6544966、rs4665230、rs583168、rs17045705、rs2280122、rs1548020、rs518113、rs497973、rs3806510、rs13386930、rs6721623、rs3795933、rs7560892、rs4233701、rs9261、rs7579413、rs12470949、rs12478701、rs2081302、rs12478744、rs2339853、rs35379186等,但不限于这些。
作为人第3号染色体的包含THRB的区域中的多态性位点,可以例示单核苷酸多态性国际编号rs1397878、rs6765461、rs6801153、rs1464010、rs7630879、rs6550848、rs826375、rs1667765、rs826378、rs6808673、rs2596623、rs17194828、rs1562736、rs9310730、rs2683535、rs7652337、rs7652444、rs2683542、rs1667739、rs1505302、rs6799431、rs17014338、rs826249、rs10510540、rs6772213、rs851719、rs6792783、rs1354605、rs866651、rs958892、rs826225、rs6550853、rs826223、rs826218、rs1466122、rs1449874、rs11719336、rs7625917、rs17787283、rs4858594、rs1449872、rs9849581、rs9863517、rs9843698、rs9867989、rs1667746、rs17787319、rs1505307、rs7640580、rs12639035、rs9810037、rs9833191、rs12630454、rs3951794、rs6781111、rs1505287、rs12495379、rs4858608、rs7624363、rs4640503、rs6550865、rs9839986、rs5014281、rs9831450、rs4241527、rs4858617、rs4858618、rs2196427、rs10490840、rs6788339、rs6765048、rs892941等,但不限于这些。
作为人第3号染色体的包含MED12L和/或CLRN10S和/或GPR171的区域中的多态性位点,可以例示单核苷酸多态性国际编号rs13088412、rs9837084、rs744876、rs571170、rs358954、rs9833515、rs6440716、rs358967、rs1993404、rs9883677、rs2048229、rs16863149、rs891666、rs1835668、rs6787683、rs16863204、rs16863208、rs16863229、rs3732755、rs3773614、rs1231521、rs3108727、rs3773619、rs7649855、rs16863264、rs2870518、rs3846072、rs6782715、rs1882014、rs16863287、rs10513391、rs3773621、rs10935835、rs9863821、rs9864095、rs1873619、rs7623356、rs1491981、rs6440735、rs3971192、rs7644001、rs16863323、rs6801273、rs9820422、rs16863336、rs1388622、rs3975404、rs10513394、rs6787801、rs9289836、rs3821663、rs7429509、rs3821664、rs1491974、rs9653953、rs17204501、rs17204508、rs4680406、rs12490051、rs16863364、rs11708767、rs11709550、rs3732769、rs10935844、rs2276765、rs2276766、rs16863376、rs6440741、rs6771904、rs6772196、rs3732771、rs9864533、rs4435614、rs17204557、rs6798252、rs4680440、rs4680443、rs13088575、rs6790903、rs9289840、rs4680474、rs4541381、rs4596123和rs7612205、NCBI(v36.1)152200518、152229595、152456055和152609183等,但不限于这些。
作为人第4号染色体的包含SORBS2的区域中的多态性位点,可以例示单核苷酸多态性国际编号rs10866277、rs12645545、rs12649063、rs7437897、rs11132327、rs10866278、rs6823490、rs6843640、rs6818789、rs2101307、rs6552895、rs6552896、rs6552897、rs12498673、rs10025265、rs2306707、rs3749579、rs6848934、rs2306703、rs11934819、rs4862558、rs4599460、rs4862559、rs6823546、rs11132334、rs5018568、rs904451、rs7677363、rs2030144、rs11132338、rs11132340、rs7669883、rs6858544、rs1027521、rs2173480、rs2173479、rs11132344、rs10084919、rs7677532、rs6835720、rs10024805、rs6834923、rs6812818、rs10015164、rs11132345、rs10024359、rs10000785、rs1039235、rs2310357、rs10028428、rs4862571、rs7684943、rs10021308、rs1566347、rs12504307、rs11132355、rs10028944、rs1499010、rs11724690、rs11940307、rs1566354、rs2648126、rs2648120、rs2648117、rs2648112、rs4861686、rs1026362、rs12643549、rs2310372、rs4862588、rs10031442、rs4637445、rs1947455、rs2278938、rs12641600、rs4862600、rs10002339、rs7694098、rs830829、rs830838、rs830841、rs2603731rs7697039、rs7697051、rs1356672、rs7679967、rs4861696、rs1519320、rs12643213等,但不限于这些。
作为人第5号染色体的包含MAST4的区域中的多态性位点,可以例示单核苷酸多态性国际编号rs7733618、rs12514219、rs4532318、rs6861487、rs7700850、rs4587034、rs7705086、rs16895307、rs16895308、rs6890124、rs4339298、rs4613646、rs6862416、rs4532319、rs10515011、rs16895357、rs7732647、rs4355471、rs4554157、rs12055346、rs16895417、rs17210621、rs7706654、rs6864239、rs6896102、rs4374700、rs16895456、rs6880657、rs6863239、rs16895458、rs11953193、rs10940078、rs4446417、rs9791090、rs33721、rs33728、rs2548712、rs33696、rs257711、rs33724、rs26384、rs7704890、rs7725568、rs30729、rs26383、rs27637、rs26382、rs9918275、rs258082、rs257699、rs257700、rs16895719、rs30731、rs16895744、rs1835136、rs36157、rs36155、rs544158、rs36144、rs36143、rs26923、rs16895768、rs463219、rs16895790、rs26921、rs192295、rs26929、rs26928、rs461702、rs460844、rs455938、rs464881、rs456775、rs154620、rs17217092、rs154618、rs10056426、rs152407、rs37568、rs734828、rs2280174、rs16896071、rs40206、rs706701、rs17218390、rs6863305、rs39664、rs34691、rs34693、rs10044452、rs34698、rs34699、rs4016246、rs1159201、rs2662227、rs27206、rs469300、rs467845、rs2545396、rs16896246、rs16896295、rs17221226、rs2287929和rs16896325、NCBI(v36.1)65944399等,但不限于这些。
作为人第5号染色体的包含GLRX和/或C5orf27的区域中的多态性位点,可以例示单核苷酸多态性国际编号rs34896、rs34897、rs3777220、rs3777217、rs11738579、rs3777213、rs7736948、rs6556883、rs9314160、rs6876015、rs11135436、rs17085165、rs17085170、rs10040697、rs6884979、rs7702848、rs2080947、rs10476660、rs154454、rs147295、rs17085249、rs11741590、rs3777194、rs2270554、rs3777190、rs3777188和rs4642392、NCBI(v36.1)95206085等,但不限于这些。
作为人第5号染色体的包含EBF1的区域中的多态性位点,可以例示单核苷酸多态性国际编号rs2913384、rs173423、rs244654、rs824854、rs824848、rs1095103、rs403334、rs10515769、rs2112262、rs33196、rs17056089、rs2042875、rs3843489、rs1541649、rs17056186、rs2116727、rs10067813、rs7709065、rs17056205、rs1368298、rs4704963、rs10070743、rs4704967、rs10056564、rs6875710、rs17643057、rs6883655、rs891903、rs10054046、rs6556373、rs4921537、rs6556377、rs13180086、rs6556379、rs6556381、rs1544754、rs883540、rs17056426、rs17056435、rs1363561、rs9313797、rs1422672、rs17056474、rs17717829、rs10515787、rs10515786、rs10515789、rs9637861、rs7442845、rs12659540、rs3862065、rs270661等,但不限于这些。
作为人第5号染色体的包含DOCK2的区域中的多态性位点,可以例示单核苷酸多态性国际编号rs4493692、rs3797712、rs3797713、rs264881、rs36101422、rs264834、rs6879467、rs6883997、rs7721990、rs7713640、rs900464、rs264846、rs2161404、rs2306560、rs3816764、rs11134586、rs12515906、rs264844、rs2279318、rs264843、rs10063658、rs4867879、rs17736846、rs264838、rs12658902、rs2306558、rs262865、rs262840、rs262841、rs262842、rs155239、rs262848、rs262851、rs4867572、rs262852、rs746468、rs90213、rs17051884、rs262860、rs262859、rs10076580、rs6875474、rs185532、rs17669613、rs1013193、rs17669636、rs966595、rs17669654、rs13171272、rs261612、rs13163565、rs17737323、rs155074、rs261016、rs261597、rs166368、rs261633、rs10054135、rs261624、rs261625、rs17560224、rs4867895、rs168678、rs30080、rs30083、rs17670092、rs7717087、rs17737597、rs7729471、rs261039、rs261038、rs1482333、rs2291229、rs261021、rs261076、rs12515095、rs17646198、rs17560405、rs261067、rs261060、rs261006、rs261008、rs11740615、rs11741667、rs155023、rs11742527、rs978914、rs12522080、rs2624252、rs6896240、rs6862278、rs3860755、rs259897、rs259899、rs259900、rs259902、rs259903、rs6895199、rs259916、rs12659898、rs1422695、rs17738158、rs17561105、rs11134600、rs6893165、rs2161366、rs9313476、rs17738326、rs2287727、rs17738444、rs6884677、rs13152920、rs9790867、rs11134603、rs17738530、rs2134151、rs12055169、rs17738584、rs1316638、rs17072023、rs13361200、rs17738710、rs10462994、rs10462995、rs6890267、rs6871764、rs17671355、rs6555884、rs17562083、rs10516070、rs955078等,但不限于这些。
作为人第6号染色体的包含6p21.31-p21.3(包含HLA-DPA1)的区域中的多态性位点,可以例示单核苷酸多态性国际编号rs1044043、rs10484565、rs241438、rs1800454、rs241429、rs241427、rs4711312、rs2071482、rs4148882、rs12529313、rs9276815、rs20547、rs9276825、rs9276832、rs241404、rs241403、rs3101942、rs241400、rs3132132、rs151719、rs1050391、rs9378127、rs188245、rs3129305、rs176248、rs12216336、rs2894311、rs12191230、rs2395301、rs12192713、rs12199692、rs1044429、rs592625、rs399604、rs365066、rs3763341、rs4713603、rs4713604、rs6936620、rs2116264、rs1367731、rs439852、rs446853、rs9296069、rs440841、rs3128952、rs3130180、rs3097662、rs3128955、rs3130588、rs9277183、rs3097669、rs9277194、rs376877、rs6457710、rs3077、rs9348904、rs9296073、rs2856816、rs3135021、rs1431403、rs9277542、rs3128963、rs3128965、rs3128966、rs3117229、rs2068204、rs2179920、rs2295120、rs3117242、rs3128921、rs3128923、rs9296079、rs3117230、rs3128930、rs872956、rs9380343、rs6937034、rs6937061、rs9277637、rs3117039、rs3130233、rs3117016、rs2395351、rs3116985、rs3129249、rs3129248、rs1003979、rs2071025、rs2855459、rs439205、rs213208、rs461338、rs458679、rs455567、rs14398、rs3130267、rs3130014、rs211455、rs211453、rs10807124、rs411136、rs2772376、rs7747216、rs9469491、rs17627049、rs210137、rs9296095、rs210138、rs444697、rs1794681、rs9469529、rs4711332、rs12205634、rs1408711、rs1536041、rs2229637、rs10947427、rs3818527、rs3818528、rs3818530、rs4713659、rs594223、rs7759668、rs626156、rs498114、rs654682、rs16869412、rs10947432、rs3818532、rs9394163、rs12203688、rs4713670、rs4713671、rs622917、rs12189725、rs877187、rs4713674、rs4713677、rs943466、rs943467、rs755495、rs747692、rs943475、rs6929696、rs3806108、rs3828783、rs3763253、rs9366829、rs9394169、rs4713686、rs10947441等,但不限于这些。
作为人第6号染色体的包含LOC100132919的区域中的多态性位点,可以例示单核苷酸多态性国际编号rs1338657、rs9485685、rs9377361、rs9377365、rs9377366、rs9322660、rs9322661、rs2399802、rs17063309、rs680011、rs9499111、rs9404214、rs1569366、rs1569367、rs17443301、rs17063399、rs6906578和rs7740643、NCBI(v36.1)102984444等,但不限于这些。
作为人第7号染色体的包含AAA1和/或NPSR1的区域中的多态性位点,可以例示单核苷酸多态性国际编号rs1156490、rs6462540、rs1419842、rs2392267、rs1419803、rs1419805、rs1419809、rs6977125、rs17169769、rs17169771、rs7778512、rs1419840、rs35114106、rs1019089、rs16878925、rs1362172、rs2392270、rs17831435、rs10951417、rs1468559、rs10486643、rs6951496、rs7458608、rs2893480、rs4723375、rs1419863、rs1419864、rs9639694、rs9639695、rs10951418、rs10215667、rs6971556、rs12673387、rs4723377、rs6950303、rs1034876、rs17169864、rs17169865、rs16878959、rs12672624、rs10486649、rs2893482、rs12672538、rs10486650、rs2392274、rs2079509、rs10243426、rs2097960、rs1362173、rs1458549、rs450463、rs1023555、rs1023556、rs2530548、rs2530549、rs2530550、rs1419794、rs2530565、rs1458544、rs2609226、rs9792042、rs2530567、rs2609218、rs323925、rs323912、rs10239860、rs1419791、rs17777040、rs17198254、rs17777663、rs17777675、rs17198982、rs17788843、rs324978、rs324981、rs324983、rs1419780、rs325464、rs17199659、rs17789420、rs17789642、rs17170015、rs17200455、rs10263313、rs17790181、rs11768189等,但不限于这些。
作为人第7号染色体的包含ELMO1的区域中的多态性位点,可以例示单核苷酸多态性国际编号rs10277512、rs4720221、rs7787226、rs10951500、rs10274668、rs10255208、rs2006882、rs2392472、rs756507、rs2241152、rs7785934、rs7782979、rs17170754、rs3807162、rs3734948、rs741302、rs2041801、rs6966276、rs4723592、rs11769038、rs4723598、rs1882080、rs4723601、rs11982286、rs1986619、rs1882082、rs10268319、rs17170799、rs6957979、rs10225164、rs2293628、rs999744、rs17170820、rs17170826、rs17170830、rs1364373、rs13233995、rs6971267、rs7809487、rs1035582、rs2541103、rs2541074、rs2541075、rs2551069、rs1420421、rs6958656、rs10257460、rs12666532、rs1420422、rs17170915、rs10224438、rs7809365、rs6963276、rs6967358、rs6967403、rs10279544、rs4723619、rs17170955、rs2723969、rs6944921、rs6462746、rs1016321、rs2541082、rs4723631、rs2541089、rs2717975、rs10238916、rs2723952、rs12534004、rs2893540、rs2724006、rs2717983、rs2717990、rs2701004、rs2724007、rs2717992、rs2723996、rs9655380、rs2701003、rs2717993、rs2724003、rs2723980、rs2723990、rs2717948、rs2700992、rs6462758、rs2724014、rs2724016、rs1882079、rs2717954、rs13247953、rs2392495、rs10233634、rs12532031、rs4720246、rs7782999、rs1425124、rs1647801、rs2052688、rs2052687、rs10282309、rs10239693、rs17261508、rs10267165、rs918979、rs7777258、rs11767227、rs1647791、rs1732001、rs17171045、rs9655382和rs6952260、NCBI(v36.1)37495022等,但不限于这些。
作为人第8号染色体的包含TNKS的区域中的多态性位点,可以例示单核苷酸多态性国际编号rs12680471、rs2085640、rs17149989、rs17730481、rs17663071、rs17663167、rs4841147、rs1458938、rs1458939、rs11786942、rs17674819、rs1466338、rs13253327、rs17150066、rs11777274、rs11249921、rs17150087、rs1380104、rs11997346、rs4841156、rs6991328、rs17150131、rs7817148、rs10100760、rs17150181、rs17150185、rs17733293、rs7835349、rs7013746、rs7016636、rs3989158、rs17150211、rs4841169、rs4841171、rs6985564、rs11991621、rs4840426、rs6992432、rs10503380、rs7013834、rs6980831、rs12681719、rs4840427、rs4841179、rs7832096、rs4474027、rs4457339、rs12674762、rs4535743、rs1393、rs4342598、rs11780274、rs13273033、rs4841197、rs7010270、rs4841200、rs7459728、rs7461939、rs9644708、rs12545912、rs4840437、rs7004915、rs11785739、rs17150478、rs11787443、rs2898223、rs7820917、rs7829463、rs7000483、rs1567837、rs17734290、rs12540961、rs7829733、rs2137790、rs13249584、rs7013686、rs7015101、rs13270146、rs6601389、rs6601390、rs10098618、rs12056944、rs12543996、rs7828229、rs17150703、rs531564等,但不限于这些。
作为人第8号染色体的包含ANGPT1的区域中的多态性位点,可以例示单核苷酸多态性国际编号rs12549261、rs10955436、rs6981257、rs11774921、rs11781710、rs1954724、rs6997025、rs1892764、rs16875775、rs11778352、rs2584372、rs2246255、rs2022958、rs2022949、rs16875901、rs1010824、rs2507799、rs10505100、rs11777978、rs16875983、rs9297393、rs7009229、rs13257393、rs4077322、rs11997995、rs10505105、rs4133396、rs4133395、rs4341141、rs10505107、rs11780324、rs35143736、rs17368715、rs17296616、rs17368821、rs10955450、rs1433178、rs2514850、rs1283653、rs2445351、rs1283659、rs16876122、rs1632130、rs1672143、rs16876200、rs2514867、rs1283706、rs1283703、rs11785702、rs1283663、rs1283694、rs1433192、rs1433191、rs1298936、rs1368497、rs1529747、rs2916085、rs1368494、rs3847160、rs1654680、rs17301273、rs10086467、rs16876325、rs1283720、rs1433171、rs1433172、rs10216767、rs1583300、rs281708、rs10955457、rs10103715、rs281673、rs439896、rs281685、rs281696、rs2014769、rs281740和rs190735、NCBI(v36.1)108394240等,但不限于这些。
作为人第9号染色体的包含PGM5的区域中的多态性位点,可以例示单核苷酸多态性国际编号rs3869296、rs7020465、rs11142449、rs11142461、rs10868851、rs13439981、rs7039076、rs265083、rs2131355、rs265087、rs265073、rs7861495、rs10869020、rs17085775、rs11795256、rs10869034、rs1411992、rs10869043、rs12343877、rs11142941、rs869950、rs7046236、rs9644996等,但不限于这些。
作为人第9号染色体的包含TMC1的区域中的多态性位点,可以例示单核苷酸多态性国际编号rs3012514、rs7846808、rs7027640、rs10781101、rs4526421、rs7853275、rs10869178、rs7864535、rs12004208、rs6560277、rs4573342、rs4132905、rs4073227、rs10121866、rs7044241、rs7855743、rs4373587、rs11143314、rs7047875、rs6560284、rs6560285、rs7857300、rs6560287、rs7866185、rs6560293、rs7026124、rs12346185、rs7041300、rs4307407、rs17095、rs10113863、rs7029452、rs6560297、rs7045535、rs13285932、rs10521449、rs13285999、rs10869190、rs9314799、rs1037031、rs2487471、rs2589623、rs2793153、rs2589615、rs969205、rs1796991、rs1838487、rs2589609、rs1663756、rs12351661、rs1663763、rs13298704、rs2501914等,但不限于这些。
作为人第9号染色体的包含ROR2的区域中的多态性位点,可以例示单核苷酸多态性国际编号rs6479357、rs9409602、rs10991978、rs10991988、rs7867934、rs1388966、rs902923、rs902922、rs10512215、rs1532230、rs12337820、rs7029450、rs2131304、rs10992027、rs9299395、rs1388967、rs4073736、rs4073735、rs9409652、rs10992075、rs7031729、rs17585790、rs16907725、rs16907728、rs4372069、rs16907761、rs16907764、rs17586213、rs7039620、rs16907768、rs10992090、rs3802379、rs3935382、rs4601388、rs4744101、rs4743852、rs10119449、rs7858240、rs7022147、rs1569141、rs10992124、rs7856144、rs7855417、rs6479374、rs1881385、rs16907863、rs12002851、rs1881392、rs10992137、rs7045226、rs11789730、rs16907923、rs12684524、rs7858435、rs10116326、rs16907979、rs10992161、rs6479386、rs3858082、rs7038823、rs7871522、rs10125466、rs10992178、rs 10820926、rs6479389、rs 10820927、rs7867072、rs 1954599、rs 10992207等,但不限于这些。
作为人第9号染色体的包含PPP6C和/或C9orf126的区域中的多态性位点,可以例示单核苷酸多态性国际编号rs7022663、rs7024526、rs2289631、rs10986505、rs16927802、rs12001999、rs10819019、rs6478690、rs1017530、rs3824507、rs12352758、rs4838242、rs650599、rs7860360、rs2113352、rs7019234、rs7867749、rs2271746、rs16927930、rs10986618、rs10986626、rs12237026、rs463774、rs420423、rs10986641、rs10513445、rs393721、rs10819043、rs10986689、rs10986698、rs10986703、rs10986714、rs10986715、rs10986721、rs10986722、rs1463837、rs4837016、rs10126025、rs10986738、rs2819624、rs3122938等,但不限于这些。
作为人第10号染色体的包含GRID1的区域中的多态性位点,可以例示单核苷酸多态性国际编号rs2202925、rs17306253、rs10887498、rs12243608、rs1876887、rs2457451、rs2664403、rs2664394、rs1912274、rs1912322、rs744413、rs2664406、rs2664405、rs2616673、rs2175200、rs2175201、rs17105725、rs1912277、rs2457450、rs17105747、rs746992、rs7076174、rs4027581、rs11201743、rs4418740、rs17105793、rs12221324、rs17105805、rs7924009、rs11201759、rs11201775、rs3011700、rs2949380、rs17105842、rs3011704、rs2140661、rs1917136、rs17105866、rs1880389、rs884316、rs2949384、rs2949385、rs2140666、rs2949386、rs1106789、rs11201804、rs17105912、rs17105916、rs2352181、rs947596、rs2352099、rs7924131、rs7923188、rs7923344、rs1418396、rs7899222、rs10788472、rs10887538、rs2153828、rs7910835、rs7914815、rs7918491、rs2001417、rs2001416、rs10887540、rs7095652、rs12773130、rs12779841、rs10887544、rs11201871、rs10887549、rs10788476、rs2003111、rs7912451、rs11201882、rs2352178、rs7923926、rs7082134、rs4284352、rs6585995、rs6585996、rs5003944、rs7923310、rs884700、rs4934156、rs11201909、rs868042、rs12257526、rs12262754、rs11817682、rs12243396、rs1870156、rs2607830、rs17320915、rs2814322、rs2607840、rs11201944、rs17106434、rs2607822、rs10887563、rs10887564、rs2492738、rs1870161、rs2607839、rs1870165、rs2814340、rs1902678、rs2814349、rs1947567、rs2168725、rs1902680、rs2607833、rs1902676、rs1896527、rs6586003、rs12262612、rs6586004、rs17106584、rs7905184、rs10887578、rs10509530、rs1078789、rs10749537、rs12355013、rs7904985、rs10788500、rs10788501、rs10458771、rs2018507、rs10887608、rs4934207、rs4934208、rs7083506等,但不限于这些。
作为人第11号染色体的包含11p11.2(包含SPI1和/或SLC39A13和/或PSMC3和/或RAPSN和/或NUP160)的区域中的多态性位点,可以例示单核苷酸多态性国际编号rs7124648、rs7128650、rs4587689、rs11039097、rs12796744、rs17197619、rs17790390、rs11039105、rs10501319、rs11039112、rs747650、rs7937410、rs17197710、rs1685404、rs2013867、rs901746、rs7118396、rs10838681、rs10501321、rs1051006、rs3816724、rs7124955、rs4752824、rs1052373、rs11570094、rs10769255、rs11039212、rs4992357、rs11605672、rs1534576、rs10742805、rs12419692、rs4752856、rs3817334、rs7120548、rs10838739、rs11039329、rs10742817、rs4752791、rs17788930、rs7114011、rs10838774、rs2305982、rs6485788、rs10838782、rs7924699、rs1872167、rs747782、rs1681630等,但不限于这些。
作为人第11号染色体的包含OR5R1的区域中的多态性位点,可以例示单核苷酸多态性国际编号rs1586004、rs7940239、rs10896302、rs17615246、rs10750820、rs1945245、rs3938998、rs10791979、rs1573511、rs12277883、rs7116573、rs10896333、rs4420287、rs1894026、rs1945213、rs1945211、rs7113069、rs11228306、rs12785840、rs10501353、rs1945203、rs585475、rs615231、rs617315、rs675991、rs7939886、rs4939052、rs621957、rs611534、rs594854、rs618594、rs634955、rs613050等,但不限于这些。
作为人第11号染色体的包含MS4A7和/或MS4A14的区域中的多态性位点,可以例示单核苷酸多态性国际编号rs1026250、rs10750931、rs7126121、rs11230241、rs10897026、rs12225299、rs10792264、rs7125753、rs11605188、rs1899571、rs11230258、rs11230261、rs7943967、rs4442568、rs10897047、rs2868121、rs7945665、rs10897049、rs4506675、rs10792267、rs2304935、rs2165832、rs10736703、rs4939347、rs2233244、rs950803、rs950802、rs3816270、rs2241920、rs10501383、s10897056、rs4939352、rs955019、rs4938943、rs11230304、rs3763850、rs2282524、rs10897061、rs2120182、rs12787520、rs4146870、rs4939364、rs1051756、rs1941032、rs17615252、rs17543397、rs8181503、rs7946021、rs4939391、rs2186919、rs2847222、rs2633277和rs2847212、NCBI(v36.1)59954904等,但不限于这些。
作为人第11号染色体的包含MAP6和/或GDPD5和/或SERPINH1的区域中的多态性位点,可以例示单核苷酸多态性国际编号rs565976、rs534179、rs2276443、rs532454、rs511190、rs566818、rs482458、rs1793412、rs1790149、rs1790155、rs1790154、rs668727、rs11600640、rs611449、rs11236449、rs661928、rs621305、rs11236452、rs7128888、rs7129014、rs688727、rs674503、rs606452、rs11236458、rs599816、rs660343、rs541993、rs601142、rs648930、rs611221、rs12574551、rs584046、rs640927、rs11236476、rs17134231、rs12282340、rs10160335、rs12281880、rs656007、rs479592、rs589443、rs4944086、rs10751245、rs7110142、rs7947980和rs509530、NCBI(v36.1)75005360等,但不限于这些。
作为人第11号染色体的包含11q23-24(包含PCSK7和/或RNF214)的区域中的多态性位点,可以例示单核苷酸多态性国际编号rs17120344、rs6589597、rs10790175、rs12420127、rs10892082、rs7107152、rs1242229、rs1784042、rs2269399、rs526602、rs664971、rs11216315、rs1263499、rs17120523、rs236919、rs528508、rs593245和rs477036、NCBI(v36.1)116617736等,但不限于这些。
作为人第12号染色体的包含TAOK3的区域中的多态性位点,可以例示单核苷酸多态性国际编号rs7297299、rs5745807、rs5745811、rs9739560、rs4767654、rs10638、rs9788041、rs11068799、rs11068803、rs10850953、rs7135008、rs11613924、rs7307331、rs9669474、rs7957463、rs10850956、rs2936840、rs904661、rs1726407、rs1726392、rs17440336、rs1277442、rs11068860、rs11068865、rs17512142、rs17440364、rs364823、rs418941、rs7974718、rs11068891、rs16948230、rs404566、rs16948234、rs17512483、rs17512574、rs2271007、rs11068937、rs7966814、rs6490178、rs905579、rs983421、rs1503767、rs7132650、rs7316050等,但不限于这些。
作为人第12号染色体的包含STX2的区域中的多态性位点,可以例示单核苷酸多态性国际编号rs7964173、rs11061064、rs10848174、rs7965385、rs7979388、rs7953972、rs4759749、rs4759751、rs7308461、rs1881062、rs10083153、rs729463、rs1881067、rs2695872、rs10848193、rs10848194、rs7305915、rs2398529、rs3864899、rs4412792、rs2632601、rs1554807、rs10848205、rs2037789、rs4619189、rs2001483、rs1609985、rs10848218、rs11061198、rs7307055、rs11061209、rs10773833、rs11061222、rs7299940、rs2141182、rs1405904、rs1316893、rs4074922、rs4388928等,但不限于这些。
作为人第13号染色体的包含CARS2的区域中的多态性位点,可以例示单核苷酸多态性国际编号rs9521809、rs4773201、rs1106649、rs9521814、rs385037、rs7997619、rs912941、s1886871、rs2182271、rs912942、rs331596、rs9559844、rs331602、rs1536621、rs9521853、rs9559849、rs7999854、rs3858821、rs4771696、rs4773228、rs4773229、rs2765341、rs3742193、rs3742194、rs7323602、rs3759463、rs179356、rs330565、rs7394、rs389656、rs450514、rs445490、rs418321、rs2251314、rs2165418、rs7999702、rs9521926、rs3098728、rs9515279和rs2582886、NCBI(v36.1)110097814等,但不限于这些。
作为人第15号染色体的包含CYP19A1的区域中的多态性位点,可以例示单核苷酸多态性国际编号rs6493469、rs12595526、rs8031702、rs17599974、rs16953045、rs10744956、rs2306335、rs6493470、rs7181201、rs11856609、rs1124769、rs17647040、rs12899586、rs12904155、rs7170455、rs7177664、rs8040954、rs17647084、rs4775916、rs1111266、rs16964077、rs1025738、rs7179084、rs7176579、rs16964113、rs10519293、rs17522553、rs12324478、rs1075681、rs2899469、rs8031580、rs8029120、rs4774583、rs2289105、rs8034835、rs6493489、rs16964201、rs12595627、rs8023263、rs2899473、rs700518、rs3759811、rs17703883、rs1865803、rs4775936、rs10459592、rs17523270、rs10519297、rs11636686、rs11636667、rs1062033、rs2008691、rs11636403、rs10519299、rs17647707、rs17647719、rs7167343、rs936308、rs12594203、rs999480、rs2290622、rs8031463、rs6493495、rs2445765、rs2445766、rs2445768、rs1551656、rs12441382、rs2446420、rs2124873、rs2470184、rs2470187、rs2445781、rs12595284、rs17647970、rs7174434、rs764530、rs12438104、rs16964308、rs4775942、rs16964316、rs2470172、rs2470173、rs16964319、rs10163098、rs12443092、rs2168623、rs3751586、rs2445741、rs8036694、rs2459396和rs16964348、NCBI(v36.1)49383121等,但不限于这些。
作为人第17号染色体的包含CA10的区域中的多态性位点,可以例示单核苷酸多态性国际编号rs4794268、rs4794274、rs4399573、rs12051837、rs6504736、rs7208167、rs9303589、rs1468118、rs10491154、rs17695254、rs2073864、rs9912472、rs3764798、rs17695921、rs11867674、rs886078、rs8076197、rs8076496、rs2073866、rs9901183、rs4794293、rs8064617、rs4794294、rs985758、rs4794295、rs16950363、rs2873938、rs1263962、rs1263965、rs1263988、rs1263989、rs4794298、rs4794300、rs8080331、rs11869209、rs1269480、rs1263978、rs1003290、rs1263981、rs1405191、rs1263984、rs9904076、rs4794304、rs8074185、rs6504747、rs16950512、rs7223782、rs4794305、rs16950534、rs1526182、rs1501255、rs4496207、rs1125750、rs1405187、rs767326、rs981577、rs4794307、rs202133、rs16950626、rs9896969、rs202136、rs202121、rs202120、rs203076、rs203090、rs203092、rs203093、rs203097、rs203098、rs10514990、rs203010、rs10514991、rs203022、rs6504754、rs12603762、rs169386、rs203042、rs7215008、rs996379、rs4794315、rs1501253、rs203050、rs203002、rs1005092、rs9896168、rs8065627、rs16950939、rs2907784、rs11079991、rs1393735、rs2970016、rs1875675、rs2938139、rs1354275、rs7224915、rs9893317、rs1503059、rs2970052、rs11655715、rs1155218、rs2931368、rs2931365、rs2931364、rs9908649、rs1486745、rs4605214、rs1503041、rs10514997、rs10514998、rs11079993、rs1503050、rs1503051、rs10515000、rs12949235、rs1393734、rs17678475、rs16951169、rs12150128、rs16951176、rs16951177、rs9903651、rs10515001、rs1847245、rs12150499、rs6504764等,但不限于这些。
作为人第18号染色体的包含LOC643542的区域中的多态性位点,可以例示单核苷酸多态性国际编号rs8086948、rs12457951、rs11151371、rs17077389、rs1480679、rs5000099、rs1480682、rs433411、rs370944、rs395074、rs379982、rs281571、rs1444106、rs2448716、rs1562072、rs1867412、rs17077583、rs764133、rs17828615、rs2440515、rs10503119、rs2318439、rs12607172、rs9319737、rs1444112、rs2448755、rs2448745、rs2440527、rs28379561、rs10503118、rs1562070、rs2448727、rs17077858、rs12605273、rs2440540、rs4127445、rs7231324、rs12964913、rs9319739、rs17077963、rs12954315、rs4127447、rs7243836、rs8085641、rs2054299、rs515540、rs519360、rs17078114、rs2613163、rs652082、rs638006、rs3911662、rs12966846、rs3845265、rs11661918、rs11151403、rs9953435等,但不限于这些。
作为人第20号染色体的包含PTPRT的区域中的多态性位点,可以例示单核苷酸多态性国际编号rs1884029、rs6072606、rs2207220、rs4812571、rs4572656、rs2013923、rs4812574、rs6513762、rs6513763、rs6029950、rs2144009、rs2866941、rs6102658、rs2144011、rs3787282、rs746413、rs4812578、rs6102671、rs1126101、rs6065434、rs4810352、rs1076666、rs6029980、rs6016688、rs2076249、rs17221018、rs17221067、rs17312515、rs17221137、rs6130047、rs16986551、rs17221326、rs16986558、rs12625871、rs6016698、rs6030014、rs17221823、rs1883377、rs6016705、rs2179336、rs2143008、rs6030030、rs2206169、rs6102713、rs6093598、rs6030070、rs6030071、rs1014757、rs2143632、rs6030076、rs16986712、rs727337、rs727336、rs6030096、rs11906485、rs2867026、rs16986733、rs11698118、rs6124439、rs11696306、rs1016071、rs6030124、rs1573707、rs6016745、rs12481463、rs4812588、rs6102795、rs11697499、rs4812591、rs916327、rs1883269、rs16986850、rs1033414、rs11700137、rs6072747、rs999114、rs999113、rs6016798、rs2076082、rs6065482、rs6065484、rs6065487、rs6130145、rs230153、rs230154、rs172981、rs230155、rs6072758、rs230157、rs6124468、rs6102880、rs6130153、rs6065504、rs6065509、rs6072789、rs1033643、rs13040647、rs16987042、rs6030322、rs6072792、rs4482557、rs6130168、rs6030341、rs17747544、rs6065515、rs1883843、rs8119203、rs10854226、rs6102929、rs8121443、rs6030363、rs6102950、rs2867488、rs7360934、rs909863、rs6030370、rs6030380、rs6030381、rs9974028、rs6093705、rs6030385、rs6102967、rs2223542、rs6030395、rs6065520、rs6072814、rs2206426、rs6016864、rs6072819、rs6030407、rs6065525、rs2425520、rs2425530、rs4812631、rs4810366、rs2017914、rs3092557、rs17749109、rs4812637、rs6030442、rs6030443、rs1018407、rs6016884、rs1022819、rs733976、rs6030456、rs6093729、rs6030462、rs17749217、rs2146615、rs8119733、rs13042473、rs6103041、rs1973949、rs208256、rs208254、rs3092043、rs2077768、rs208250、rs4812645、rs6130222、rs4812655、rs6130232、rs208230、rs208229、rs6065544、rs6065545、rs6065546、rs7262282、rs7262355、rs11699742、rs8125304、rs6065547、rs4812659、rs16987493、rs208272、rs208273、rs4315585、rs208186、rs208197、rs206636、rs6030572、rs4812664、rs4812665、rs16987668、rs206148、rs206154、rs206159、rs206163、rs2208048、rs2425546、rs2425553、rs2425554、rs2425560、rs2425562、rs1106978、rs6030634、rs6016951、rs1006746、rs2425587、rs927058、rs2425593、rs2425599、rs2425610、rs16987770、rs6016963、rs6065579、rs1572929、rs6072998、rs6030670、rs947202、rs947203、rs4812681、rs6093784、rs4812683、rs10485698、rs926288、rs1569445、rs6030689、rs2867656、rs11699547、rs6030709和rs7267873、NCBI(v36.1)40130174等,但不限于这些。
作为人第21号染色体的包含ITSN1的区域中的多态性位点,可以例示单核苷酸多态性国际编号rs12626309、rs2834231、rs4817579、rs2834238、rs2211689、rs2834246、rs2834251、rs2834252、rs1537097、rs1892589、rs2073368、rs2409499、rs9978415、rs2268247、rs9979937、rs2834264、rs2834268、rs879261、rs2245099、rs1108000、rs9979150、rs743316、rs2300384、rs3746861、rs2834292、rs2834295、rs2040113、rs2834296、rs2834297、rs2239565、rs17655810、rs12626410、rs2834303、rs2236645、rs2834310、rs16991110、rs2070513、rs2032312、rs2032313、rs2834315、rs11088265、rs17730050、rs2834332等,但不限于这些。
作为人第2号染色体的包含LRP2的区域中的多态性位点,可以例示单核苷酸多态性国际编号rs13416802、rs2287616、rs2287613、rs3770597、rs10200158、rs6761690、rs13430236、rs3814381、rs4148765、rs10490134、rs11902639、rs10183805、rs13403114、rs3815574、rs2302698、rs6750251、rs4667590、rs4668121、rs1990702、rs6746604、rs990627、rs990626、rs2268380、rs6733122、rs2284681、rs11679947、rs10490132、rs2239602、rs2024481、rs741378、rs2284679、rs4287730、rs10210408、rs1548936、rs3770604、rs2075248、rs10490131、rs10169232、rs2239600、rs2284675、rs2268373、rs2268372、rs2193193、rs2268370、rs6747692、rs2300445、rs2239598、rs2239597、rs2239596、rs2239594、rs830957、rs830959、rs12988804、rs831002、rs16856748、rs11887007、rs16856759、rs830964、rs830971、rs830972、rs2247506、rs3845731、rs3770636、rs2673172、rs6713072、rs1990842、rs10199676、rs830955、rs12616998、rs12613663、rs10930354、rs4281872、rs12052892等,但不限于这些。
作为人第11号染色体的包含APIP和/或PDHX的区域中的多态性位点,可以例示单核苷酸多态性国际编号rs523246、rs10501136、rs836950、rs12808574、rs10836315、rs502857、rs731726、rs731727、rs967751、rs1553760、rs1396880、rs2941043、rs2941042、rs2941061、rs2956079、rs2941054、rs1509662、rs2941052、rs2915234、rs891550、rs919554、rs2915232、rs2956086、rs1998603、rs2985390、rs1571134、rs1571135、rs2915224、rs1430855、rs2985389、rs3751078、rs2915223、rs2915220、rs2986425、rs2986427、rs1326940、rs1326941、rs1326942、rs2986429、rs2915217、rs7111607、rs2915214、rs984690、rs3763934、rs10488801、rs2956106、rs11032927、rs2915202、rs2915201、rs2915199、rs1998912、rs2915193、rs11032937、rs2915227、rs2732557、rs10836326、rs2767038、rs10488806、rs2732564、rs2732565、rs2767033、rs1409716、rs2762955、rs952489、rs514182、rs1425806、rs2732528、rs2553794、rs2553793、rs678137、rs2785156、rs2553787、rs737503、rs737502、rs2162159、rs2732552、rs387619、rs10836332、rs353610、rs353605、rs2785189、rs2553822、rs11032995、rs12291631、rs353590、rs353589、rs353587、rs1559759、rs4756190、rs353581、rs7106681、rs507230、rs634096、rs2732578、rs404977、rs4756191、rs2785180等,但不限于这些。
作为人第12号染色体的包含CUX2的区域中的多态性位点,可以例示单核苷酸多态性国际编号rs7979656、rs10849918、rs2106407、rs2106406、rs12425190、rs11065783、rs2339706、rs4509829、rs7961663、rs4766526、rs4766442、rs4766443、rs12815195、rs12229654、rs756825、rs16941284、rs6489979、rs4766553、rs9783423、rs7952972、rs16941319、rs3809290、rs7962233、rs4766451、rs886126、rs2078851、rs1265566、rs2301658、rs7300082、rs7300860、rs16941414、rs7398833、rs16941437、rs10849946、rs2078863、rs11065898等,但不限于这些。
作为人第17号染色体的包含TOM1L1的区域中的多态性位点,可以例示单核苷酸多态性国际编号rs2332297、rs2934884、rs16955216、rs2934890、rs7225247、rs16955225、rs9303359、rs7207731、rs17683089、rs11658131、rs2958944、rs2934909、rs2934914、rs2934921、rs2958933、rs7221313、rs7210248、rs2958921、rs8079105、rs16955327、rs12949718、rs9899602、rs17745123、rs8070668、rs9910653、rs17817829、rs12936860、rs12951898、rs17817950和rs2787501、NCBI(v36.1)50344775等,但不限于这些。
本说明书中,单核苷酸多态性(SNP)用dbSNP数据库中的rs编号或NCBI(v36.1)编号表示。
本说明书中所说的“正常眼压性青光眼的检查”,包含用于判断被检者罹患正常眼压性青光眼的可能性高低的检查、以及在被检者已经罹患正常眼压性青光眼的情况下用于进行确诊的检查。
本发明的检查方法中的“多态性位点”,可能存在于基因的ORF中、基因的表达调控区域(例如,启动子区、增强子区等)中、基因的内含子中、或者与这些基因存在连锁不平衡的其前后的区域。作为多态性的种类,可以列举例如单核苷酸多态性、一个至数十个碱基(有时为数千个碱基)发生取代、缺失、插入、转位或翻转的多态性等,但并不特别限定于此。另外,多态性位点的数量也不限于1个,可以为多个。
本发明的检查方法中,多态性位点的碱基的鉴定(即、碱基种类的确定)可以通过下述方法进行。
·以抽提的基因组DNA、转录产物、或包含多态性区域的利用PCR扩增的DNA为模板,直接确定基因序列的方法。
·多态性序列为限制性内切酶识别位点的情况下,利用限制性内切酶切割图谱的差异来确定基因型的方法。
·利用与多态性区域互补的引物的亲和性的差异来检测聚合酶碱基延长反应的有无或程度的方法。
·对多态性区域中的聚合酶碱基延长反应所得到的DNA的分子量或质量进行测定的方法。
·对使用特异性探针与多态性部分杂交的强度进行比较的方法。
·在多态性区域中的从模板特异性引物开始的聚合酶碱基延长反应时,对多态性位点上结合的碱基进行鉴定的方法。
·利用酶来识别与模板特异性引物相接续,有无与多态性区域互补的碱基对或非互补的碱基对的方法。
以上是代表性的SNP检测方法,但是本发明的正常眼压性青光眼的检查中,不限于这些方法。
为了鉴定多态性位点的碱基,可以从被检者的生物样品中抽提基因组DNA。生物样品例如为被检者的血液、皮肤、口腔粘膜、通过手术采集或切除的组织或细胞、出于检查等目的而采集的体液(唾液、淋巴液、呼吸道粘膜、精液、汗液、尿液等)等。作为生物样品,优选从末梢血分离的白细胞或单核细胞。可以使用市售的DNA抽提试剂盒,从生物样品中抽提基因组DNA。然后,根据需要,分离包含多态性位点的DNA。该DNA的分离可以通过使用能够与包含多态性位点的DNA杂交的引物、以基因组DNA或RNA为模板的PCR等来进行。
另外,本发明提供一种用于正常眼压性青光眼的检查的试剂,其中,包含选自由下述(a)和(b)的成分组成的组中的至少一种成分:
(a)能够将包含从由人第6号染色体的包含ELOVL5的区域、人第2号染色体的包含SRBD1的区域、人第3号染色体的包含ARPP-21的区域、人第4号染色体的包含EPHA5的区域、人第6号染色体的包含GMDS的区域、人第6号染色体的包含6p21.3(包含HSPA1B)的区域、人第6号染色体的包含SYTL3的区域、人第7号染色体的包含NXPH1的区域、人第7号染色体的包含LHFPL3的区域、人第11号染色体的包含GLB1L3的区域、人第18号染色体的包含ZNF407的区域、人第1号染色体的包含PAX7的区域、人第1号染色体的包含PTPRF的区域、人第1号染色体的包含1q12-q21.1(包含CHD1L和/或FMO5)的区域、人第1号染色体的包含1q21.2-q21.3(包含FDPS和/或ASH1L和/或KCNN3)的区域、人第1号染色体的包含FAM5B和/或ASTN1的区域、人第1号染色体的包含PKP1的区域、人第2号染色体的包含KLHL29和/或FLJ14126的区域、人第3号染色体的包含THRB的区域、人第3号染色体的包含MED12L和/或CLRN10S和/或GPR171的区域、人第4号染色体的包含SORBS2的区域、人第5号染色体的包含MAST4的区域、人第5号染色体的包含GLRX和/或C5orf27的区域、人第5号染色体的包含EBF1的区域、人第5号染色体的包含DOCK2的区域、人第6号染色体的包含6p21.31-p21.3(包含HLA-DPA1)的区域、人第6号染色体的包含LOC100132919的区域、人第7号染色体的包含AAA1和/或NPSR1的区域、人第7号染色体的包含ELMO1的区域、人第8号染色体的包含TNKS的区域、人第8号染色体的包含ANGPT1的区域、人第9号染色体的包含PGM5的区域、人第9号染色体的包含TMC1的区域、人第9号染色体的包含ROR2的区域、人第9号染色体的包含PPP6C和/或C9orf126的区域、人第10号染色体的包含GRID1的区域、人第11号染色体的包含11p11.2(包含SPI1和/或SLC39A13和/或PSMC3和/或RAPSN和/或NUP160)的区域、人第11号染色体的包含OR5R1的区域、人第11号染色体的包含MS4A7和/或MS4A14的区域、人第11号染色体的包含MAP6和/或GDPD5和/或SERPINH1的区域、人第11号染色体的包含11q23-24(包含PCSK7和/或RNF214)的区域、人第12号染色体的包含TAOK3的区域、人第12号染色体的包含STX2的区域、人第13号染色体的包含CARS2的区域、人第15号染色体的包含CYP19A1的区域、人第17号染色体的包含CA10的区域、人第18号染色体的包含LOC643542的区域、人第20号染色体的包含PTPRT的区域、人第21号染色体的包含ITSN1的区域、人第2号染色体的包含LRP2的区域、人第11号染色体的包含APIP和/或PDHX的区域、人第12号染色体的包含CUX2的区域、以及人第17号染色体的包含TOM1L1的区域组成的组中选择的至少一个区域中的至少一个多态性位点的区域进行扩增的引物;
(b)能够与包含从由人第6号染色体的包含ELOVL5的区域、人第2号染色体的包含SRBD1的区域、人第3号染色体的包含ARPP-21的区域、人第4号染色体的包含EPHA5的区域、人第6号染色体的包含GMDS的区域、人第6号染色体的包含6p21.3(包含HSPA1B)的区域、人第6号染色体的包含SYTL3的区域、人第7号染色体的包含NXPH1的区域、人第7号染色体的包含LHFPL3的区域、人第11号染色体的包含GLB1L3的区域、人第18号染色体的包含ZNF407的区域、人第1号染色体的包含PAX7的区域、人第1号染色体的包含PTPRF的区域、人第1号染色体的包含1q12-q21.1(包含CHD1L和/或FMO5)的区域、人第1号染色体的包含1q21.2-q21.3(包含FDPS和/或ASH1L和/或KCNN3)的区域、人第1号染色体的包含FAM5B和/或ASTN1的区域、人第1号染色体的包含PKP1的区域、人第2号染色体的包含KLHL29和/或FLJ14126的区域、人第3号染色体的包含THRB的区域、人第3号染色体的包含MED12L和/或CLRN10S和/或GPR171的区域、人第4号染色体的包含SORBS2的区域、人第5号染色体的包含MAST4的区域、人第5号染色体的包含GLRX和/或C5orf27的区域、人第5号染色体的包含EBF1的区域、人第5号染色体的包含DOCK2的区域、人第6号染色体的包含6p21.31-p21.3(包含HLA-DPA1)的区域、人第6号染色体的包含LOC100132919的区域、人第7号染色体的包含AAA1和/或NPSR1的区域、人第7号染色体的包含ELMO1的区域、人第8号染色体的包含TNKS的区域、人第8号染色体的包含ANGPT1的区域、人第9号染色体的包含PGM5的区域、人第9号染色体的包含TMC1的区域、人第9号染色体的包含ROR2的区域、人第9号染色体的包含PPP6C和/或C9orf126的区域、人第10号染色体的包含GRID1的区域、人第11号染色体的包含11p11.2(包含SPI1和/或SLC39A13和/或PSMC3和/或RAPSN和/或NUP160)的区域、人第11号染色体的包含OR5R1的区域、人第11号染色体的包含MS4A7和/或MS4A14的区域、人第11号染色体的包含MAP6和/或GDPD5和/或SERPINH1的区域、人第11号染色体的包含11q23-24(包含PCSK7和/或RNF214)的区域、人第12号染色体的包含TAOK3的区域、人第12号染色体的包含STX2的区域、人第13号染色体的包含CARS2的区域、人第15号染色体的包含CYP19A1的区域、人第17号染色体的包含CA10的区域、人第18号染色体的包含LOC643542的区域、人第20号染色体的包含PTPRT的区域、人第21号染色体的包含ITSN1的区域、人第2号染色体的包含LRP2的区域、人第11号染色体的包含APIP和/或PDHX的区域、人第12号染色体的包含CUX2的区域、以及人第17号染色体的包含TOM1L1的区域组成的组中选择的至少一个区域中的至少一个多态性位点的区域杂交的探针。
作为人第6号染色体的包含ELOVL5的区域中的多态性位点、人第2号染色体的包含SRBD1的区域中的多态性位点、人第3号染色体的包含ARPP-21的区域中的多态性位点、人第4号染色体的包含EPHA5的区域中的多态性位点、人第6号染色体的包含GMDS的区域中的多态性位点、人第6号染色体的包含6p21.3(包含HSPA1B)的区域中的多态性位点、人第6号染色体的包含SYTL3的区域中的多态性位点、人第7号染色体的包含NXPH1的区域中的多态性位点、人第7号染色体的包含LHFPL3的区域中的多态性位点、人第11号染色体的包含GLB1L3的区域中的多态性位点、人第18号染色体的包含ZNF407的区域中的多态性位点、人第1号染色体的包含PAX7的区域中的多态性位点、人第1号染色体的包含PTPRF的区域中的多态性位点、人第1号染色体的包含1q12-q21.1(包含CHD1L和/或FMO5)的区域中的多态性位点、人第1号染色体的包含1q21.2-q21.3(包含FDPS和/或ASH1L和/或KCNN3)的区域中的多态性位点、人第1号染色体的包含FAM5B和/或ASTN1的区域中的多态性位点、人第1号染色体的包含PKP1的区域中的多态性位点、人第2号染色体的包含KLHL29和/或FLJ14126的区域中的多态性位点、人第3号染色体的包含THRB的区域中的多态性位点、人第3号染色体的包含MED12L和/或CLRN10S和/或GPR171的区域中的多态性位点、人第4号染色体的包含SORBS2的区域中的多态性位点、人第5号染色体的包含MAST4的区域中的多态性位点、人第5号染色体的包含GLRX和/或C5orf27的区域中的多态性位点、人第5号染色体的包含EBF1的区域中的多态性位点、人第5号染色体的包含DOCK2的区域中的多态性位点、人第6号染色体的包含6p21.31-p21.3(包含HLA-DPA1)的区域中的多态性位点、人第6号染色体的包含LOC100132919的区域中的多态性位点、人第7号染色体的包含AAA1和/或NPSR1的区域中的多态性位点、人第7号染色体的包含ELMO1的区域中的多态性位点、人第8号染色体的包含TNKS的区域中的多态性位点、人第8号染色体的包含ANGPT1的区域中的多态性位点、人第9号染色体的包含PGM5的区域中的多态性位点、人第9号染色体的包含TMC1的区域中的多态性位点、人第9号染色体的包含ROR2的区域中的多态性位点、人第9号染色体的包含PPP6C和/或C9orf126的区域中的多态性位点、人第10号染色体的包含GRID1的区域中的多态性位点、人第11号染色体的包含11p11.2(包含SPI1和/或SLC39A13和/或PSMC3和/或RAPSN和/或NUP160)的区域中的多态性位点、人第11号染色体的包含OR5R1的区域中的多态性位点、人第11号染色体的包含MS4A7和/或MS4A14的区域中的多态性位点、人第11号染色体的包含MAP6和/或GDPD5和/或SERPINH1的区域中的多态性位点、人第11号染色体的包含11q23-24(包含PCSK7和/或RNF214)的区域中的多态性位点、人第12号染色体的包含TAOK3的区域中的多态性位点、人第12号染色体的包含STX2的区域中的多态性位点、人第13号染色体的包含CARS2的区域中的多态性位点、人第15号染色体的包含CYP19A1的区域中的多态性位点、人第17号染色体的包含CA10的区域中的多态性位点、人第18号染色体的包含LOC643542的区域中的多态性位点、人第20号染色体的包含PTPRT的区域中的多态性位点、人第21号染色体的包含ITSN1的区域中的多态性位点、人第2号染色体的包含LRP2的区域中的多态性位点、人第11号染色体的包含APIP和/或PDHX的区域中的多态性位点、人第12号染色体的包含CUX2的区域中的多态性位点、人第17号染色体的包含TOM1L1的区域中的多态性位点,可以例示上述的多态性位点。
另外,本发明还提供一种正常眼压性青光眼的检查试剂盒,其中,包含上述的试剂。
上述的引物和探针可以是具有至少15个核苷酸的链长的寡核苷酸。将该寡核苷酸作为引物使用的情况下,其长度通常为15bp~100bp,优选为17bp~30bp。引物只要能将包含上述多态性位点的DNA的至少一部分进行扩增,则没有特别限制。引物能够扩增的DNA的长度通常为15~1000bp,优选为20~500bp,更优选为20~200bp。另外,将该寡核苷酸作为探针使用的情况下,其长度通常为15bp~500bp,优选为30bp~500bp。探针只要能够与包含上述多态性位点的DNA杂交,则没有特别限制。探针能够杂交的DNA的长度通常为16~500bp,优选为20~200bp,更优选为20~50bp。
本发明中,能够扩增包含多态性位点的区域的引物,只要是能够以包含多态性位点的DNA为模板、朝向多态性位点开始互补链合成的引物即可。
引物中除了与包含多态性位点的区域的碱基序列互补的碱基序列以外,可以添加任意的碱基序列。例如,对于利用IIs型限制性内切酶的多态性分析方法的引物,使用添加有IIs型限制性内切酶的识别序列的引物。此外,可以对引物进行修饰。例如,可以使用以荧光物质或生物素、地高辛等结合亲和性物质进行了标记的引物。
本发明中,能够与包含多态性位点的区域杂交的探针,只要能够与具有包含多态性位点的区域的碱基序列的多核苷酸杂交即可,优选与具有包含多态性位点的区域的碱基序列的DNA特异性杂交的探针。在此“特异性杂交”是指,在通常的杂交条件下、优选严格的杂交条件下(例如,萨姆布鲁克等,分子克隆,冷泉港实验室出版社,纽约,美国,第2版1989年中所述的条件),不与具有包含多态性位点的区域的碱基序列的DNA以外的DNA产生显著的交叉杂交。更具体而言,优选其碱基序列中包含多态性位点的探针。或者,根据多态性位点处的碱基的分析方法,有时以探针的末端与多态性位点的相邻碱基相对应的方式进行设计。因此,探针自身的碱基序列中不含多态性位点、但含有与多态性位点的相邻区域互补的碱基序列的探针,也可以作为本发明中的优选的探针。
与引物同样地,允许对探针进行碱基序列的改变、碱基序列的添加或修饰。例如,入侵法中使用的探针添加有与构成盖子(flap)的基因组无关的碱基序列。这样的探针只要与包含多态性位点的区域杂交,也包含在本发明的探针中。构成本发明的探针的碱基序列,可以基于基因组中的本发明的多态性位点周边的DNA区域的碱基序列,根据分析方法而进行设计。
本领域技术人员可以基于包含多态性位点的周边DNA区域的相关碱基序列信息,根据分析方法来设计引物和探针。构成引物和探针的碱基序列不仅仅是与基因组的碱基序列完全互补的碱基序列,可以进行适当改变。
引物和探针可以基于构成其的碱基序列,通过任意的方法合成。基于给出的碱基序列而合成具有该碱基序列的寡核苷酸的方法是公知的。此外,在寡核苷酸的合成中,也可以利用以荧光色素、生物素等进行了修饰的核苷酸衍生物,在寡核苷酸中引入任意的修饰。或者,在合成的寡核苷酸上结合荧光色素等的方法也是公知的。
探针可以固定于固相上(DNA阵列)。DNA阵列是使样品DNA(或RNA)与配置在同一平面上的多数探针杂交,通过对该平面进行扫描而检测与各探针的杂交。由于能够同时观察与多数探针的反应,因此,DNA阵列对于例如多数多态性位点的同时分析是很有用的。作为核苷酸的固定(阵列)方法,可以例示以Affymetrix公司开发的寡核苷酸为基础的阵列。寡核苷酸的阵列中,通常在原位合成寡核苷酸。例如,已知平版印刷(Lithography)方式(Affymetrix公司)、喷墨方式(Agilent公司)、微珠阵列方式(Illumina公司)等的寡核苷酸原位合成法。
寡核苷酸含有包含要检测的多态性位点的区域的互补碱基序列。在将寡核苷酸固定的情况下,与基板结合的核苷酸探针的长度通常为10~100bp,优选为10~50bp,更优选为15~25bp。
用于使用DNA阵列法进行SNP检测的试样,可以基于由被检者采集的生物样品,通过本领域技术人员公知的方法来制备。生物样品没有特别限制。例如,可以从由被检者的末梢血白细胞、皮肤、口腔粘膜等的组织或细胞、泪液、唾液、尿液、粪便或毛发中抽提的基因组DNA中制备DNA试样。使用用于扩增包含要判定的多态性位点的区域的引物,对基因组DNA的特定区域进行扩增。此时,可以通过多重PCR法同时扩增多个区域。多重PCR法是在相同的反应液中使用多组引物组的PCR法。分析多个多态性位点时,多重PCR法是很有用的。
通常,在DNA阵列法中,在通过PCR法扩增DNA试样的同时,扩增产物被进行了标记。扩增产物的标记使用带标记的引物。例如,首先利用包含多态性位点的区域的特异性引物组通过PCR法扩增基因组DNA。接着,通过使用生物素标记引物的标记PCR法,合成生物素标记的DNA。使这样合成的生物素标记DNA与芯片上的寡核苷酸探针杂交。杂交的反应液和反应条件可以根据固相上固定的核苷酸探针的长度、反应温度等条件适当进行调节。本领域技术人员可以设计适当的杂交条件。为了检测杂交的DNA,添加用荧光色素标记的链霉亲和素。通过扫描分析阵列,以荧光为指标确认有无杂交。
以下示出使用DNA阵列法实施本发明的检查方法的程序的一例,准备自被检者制备的包含多态性位点的DNA和固定有核苷酸探针的固相,然后使该DNA与该固相接触。然后,检测与固相上固定的核苷酸探针杂交后的DNA,由此确定多态性位点的碱基种类。
本说明书中,“固相”是指能够将核苷酸固定的材料。固相只要能够固定核苷酸则没有特别限制,具体可以例示包括微孔板的孔、塑料珠、磁性粒子、基板等在内的固相等。作为固相,可以优选使用DNA阵列技术中通常使用的基板。本说明书中,“基板”是指能够固定核苷酸的板状材料。另外,本发明中核苷酸包括寡核苷酸和多核苷酸。
除上述方法以外,为了检测特定位点的碱基,可以使用等位基因特异性寡核苷酸(Allele Specific Oligonucleotide/ASO)杂交法。等位基因特异性寡核苷酸(ASO)含有与要检测的多态性位点所存在的区域杂交的碱基序列。使ASO与试样DNA杂交时,如果因多态性而与多态性位点产生错配,则杂交体形成的效率会降低。错配可以通过DNA印记(Southern blot)法、利用特殊的荧光试剂整合到杂交体的沟隙中会淬灭的性质的方法等进行检测。另外,也可以通过利用核糖核酸酶A的错配切割法来检测错配。
本发明的试剂和试剂盒中,根据碱基的鉴定方法,可以包含各种酶、酶底物和缓冲液等。作为酶,可以示出DNA聚合酶、DNA连接酶或IIs限制性内切酶等作为上述的碱基鉴定方法所例示的各种分析方法所需的酶。缓冲液可以适当选择适于保持这些分析中使用的酶的活性的缓冲液。此外,作为酶底物,例如可以使用互补链合成用的底物等。
另外,本发明的试剂和试剂盒中,可以附带有多态性位点处的碱基明确的对照。作为对照,可以使用预先明确了多态性位点的碱基种类的基因组DNA或基因组DNA的片段。对于基因组DNA,可以附带从细胞中抽提的基因组DNA作为对照,或者,也可以附带细胞或细胞的组分作为对照,由使用者从其中抽提基因组DNA。如果使用细胞作为对照,则根据对照的结果可以证明正确地进行了基因组DNA的抽提操作。或者,也可以使用含有包含多态性位点的碱基序列的DNA作为对照。具体而言,可以使用含有多态性位点处的碱基种类明确的基因组来源的DNA的YAC载体或BAC载体作为对照。或者,也可以使用仅将与多态性位点相当的数十至数百个bp切出并插入其中的载体作为对照。
另外,本发明提供一种正常眼压性青光眼诊断用标志基因,其中,包含由具有多态性位点的最长1000个碱基长度的连续的DNA部分序列或其互补链构成的多核苷酸,所述多态性位点为选自由人第6号染色体的包含ELOVL5的区域、人第2号染色体的包含SRBD1的区域、人第3号染色体的包含ARPP-21的区域、人第4号染色体的包含EPHA5的区域、人第6号染色体的包含GMDS的区域、人第6号染色体的包含6p21.3(包含HSPA1B)的区域、人第6号染色体的包含SYTL3的区域、人第7号染色体的包含NXPH1的区域、人第7号染色体的包含LHFPL3的区域、人第11号染色体的包含GLB1L3的区域、人第18号染色体的包含ZNF407的区域、人第1号染色体的包含PAX7的区域、人第1号染色体的包含PTPRF的区域、人第1号染色体的包含1q12-q21.1(包含CHD1L和/或FMO5)的区域、人第1号染色体的包含1q21.2-q21.3(包含FDPS和/或ASH1L和/或KCNN3)的区域、人第1号染色体的包含FAM5B和/或ASTN1的区域、人第1号染色体的包含PKP1的区域、人第2号染色体的包含KLHL29和/或FLJ14126的区域、人第3号染色体的包含THRB的区域、人第3号染色体的包含MED12L和/或CLRN10S和/或GPR171的区域、人第4号染色体的包含SORBS2的区域、人第5号染色体的包含MAST4的区域、人第5号染色体的包含GLRX和/或C5orf27的区域、人第5号染色体的包含EBF1的区域、人第5号染色体的包含DOCK2的区域、人第6号染色体的包含6p21.31-p21.3(包含HLA-DPA1)的区域、人第6号染色体的包含LOC100132919的区域、人第7号染色体的包含AAA1和/或NPSR1的区域、人第7号染色体的包含ELMO1的区域、人第8号染色体的包含TNKS的区域、人第8号染色体的包含ANGPT1的区域、人第9号染色体的包含PGM5的区域、人第9号染色体的包含TMC1的区域、人第9号染色体的包含ROR2的区域、人第9号染色体的包含PPP6C和/或C9orf126的区域、人第10号染色体的包含GRID1的区域、人第11号染色体的包含11p11.2(包含SPI1和/或SLC39A13和/或PSMC3和/或RAPSN和/或NUP160)的区域、人第11号染色体的包含OR5R1的区域、人第11号染色体的包含MS4A7和/或MS4A14的区域、人第11号染色体的包含MAP6和/或GDPD5和/或SERPINH1的区域、人第11号染色体的包含11q23-24(包含PCSK7和/或RNF214)的区域、人第12号染色体的包含TAOK3的区域、人第12号染色体的包含STX2的区域、人第13号染色体的包含CARS2的区域、人第15号染色体的包含CYP19A1的区域、人第17号染色体的包含CA10的区域、人第18号染色体的包含LOC643542的区域、人第20号染色体的包含PTPRT的区域、人第21号染色体的包含ITSN1的区域、人第2号染色体的包含LRP2的区域、人第11号染色体的包含APIP和/或PDHX的区域、人第12号染色体的包含CUX2的区域、以及人第17号染色体的包含TOM1L1的区域组成的组中的至少一个区域中的至少一个多态性位点。
作为人第6号染色体的包含ELOVL5的区域中的多态性位点、人第2号染色体的包含SRBD1的区域中的多态性位点、人第3号染色体的包含ARPP-21的区域中的多态性位点、人第4号染色体的包含EPHA5的区域中的多态性位点、人第6号染色体的包含GMDS的区域中的多态性位点、人第6号染色体的包含6p21.3(包含HSPA1B)的区域中的多态性位点、人第6号染色体的包含SYTL3的区域中的多态性位点、人第7号染色体的包含NXPH1的区域中的多态性位点、人第7号染色体的包含LHFPL3的区域中的多态性位点、人第11号染色体的包含GLB1L3的区域中的多态性位点、人第18号染色体的包含ZNF407的区域中的多态性位点、人第1号染色体的包含PAX7的区域中的多态性位点、人第1号染色体的包含PTPRF的区域中的多态性位点、人第1号染色体的包含1q12-q21.1(包含CHD1L和/或FMO5)的区域中的多态性位点、人第1号染色体的包含1q21.2-q21.3(包含FDPS和/或ASH1L和/或KCNN3)的区域中的多态性位点、人第1号染色体的包含FAM5B和/或ASTN1的区域中的多态性位点、人第1号染色体的包含PKP1的区域中的多态性位点、人第2号染色体的包含KLHL29和/或FLJ14126的区域中的多态性位点、人第3号染色体的包含THRB的区域中的多态性位点、人第3号染色体的包含MED12L和/或CLRN10S和/或GPR171的区域中的多态性位点、人第4号染色体的包含SORBS2的区域中的多态性位点、人第5号染色体的包含MAST4的区域中的多态性位点、人第5号染色体的包含GLRX和/或C5orf27的区域中的多态性位点、人第5号染色体的包含EBF1的区域中的多态性位点、人第5号染色体的包含DOCK2的区域中的多态性位点、人第6号染色体的包含6p21.31-p21.3(包含HLA-DPA1)的区域中的多态性位点、人第6号染色体的包含LOC100132919的区域中的多态性位点、人第7号染色体的包含AAA1和/或NPSR1的区域中的多态性位点、人第7号染色体的包含ELMO1的区域中的多态性位点、人第8号染色体的包含TNKS的区域中的多态性位点、人第8号染色体的包含ANGPT1的区域中的多态性位点、人第9号染色体的包含PGM5的区域中的多态性位点、人第9号染色体的包含TMC1的区域中的多态性位点、人第9号染色体的包含ROR2的区域中的多态性位点、人第9号染色体的包含PPP6C和/或C9orf126的区域中的多态性位点、人第10号染色体的包含GRID1的区域中的多态性位点、人第11号染色体的包含11p11.2(包含SPI1和/或SLC39A13和/或PSMC3和/或RAPSN和/或NUP160)的区域中的多态性位点、人第11号染色体的包含OR5R1的区域中的多态性位点、人第11号染色体的包含MS4A7和/或MS4A14的区域中的多态性位点、人第11号染色体的包含MAP6和/或GDPD5和/或SERPINH1的区域中的多态性位点、人第11号染色体的包含11q23-24(包含PCSK7和/或RNF214)的区域中的多态性位点、人第12号染色体的包含TAOK3的区域中的多态性位点、人第12号染色体的包含STX2的区域中的多态性位点、人第13号染色体的包含CARS2的区域中的多态性位点、人第15号染色体的包含CYP19A1的区域中的多态性位点、人第17号染色体的包含CA10的区域中的多态性位点、人第18号染色体的包含LOC643542的区域中的多态性位点、人第20号染色体的包含PTPRT的区域中的多态性位点、人第21号染色体的包含ITSN1的区域中的多态性位点、人第2号染色体的包含LRP2的区域中的多态性位点、人第11号染色体的包含APIP和/或PDHX的区域中的多态性位点、人第12号染色体的包含CUX2的区域中的多态性位点、人第17号染色体的包含TOM1L1的区域中的多态性位点,可以例示上述的多态性位点。
本发明的标志基因的长度通常为10个碱基长度以上、优选为20个碱基长度以上。例如,可以是包含上述多态性位点的50个碱基长度、100个碱基长度、200个碱基长度、300个碱基长度、600个碱基长度、1000个碱基长度等长度。通过确定本发明的标志基因的全长碱基序列,可以确定该基因的ORF、该基因的表达调控区域(例如,启动子区、增强子区等)等。此外,可以确定ORF所编码的多肽的氨基酸序列。上述基因区域或多肽与正常眼压性青光眼的病因或发病机制相关的可能性较高,因此,通过促进或抑制它们的功能,可能能够预防和/或治疗正常眼压性青光眼。
本发明的标志基因的DNA序列编码的多肽,可以通过对用含有该DNA序列(可以是至少含有翻译区的片段本身)的载体转化的宿主细胞进行培养,并从培养物中采集该多肽来制备。本发明还提供含有本发明的标志基因的DNA序列的载体、以及用该载体进行了转化的宿主细胞。
本发明的标志基因的DNA序列,例如可以如下制备。从人生物样品(例如,健康人或患者的血液)中抽提mRNA,使用反转录酶和oligo dT引物而合成cDNA。以cDNA为模板,通过PCR扩增本发明的标志基因。
含有本发明的标志基因的DNA序列的载体(重组载体),可以通过利用公知的方法(例如,分子克隆(Molecular Cloning),第2版,J.Sambrook等,冷泉港实验室出版社,1989中所述的方法),将本发明的标志基因的DNA序列插入到适当的表达载体中而获得。
作为表达载体,可以使用大肠杆菌来源的质粒(例如,pBR322、pBR325、pUC12、pUC13)、枯草杆菌来源的质粒(例如,pUB110、pTP5、pC194)、酵母来源的质粒(例如,pSH19、pSH15)、λ噬菌体等噬菌体、逆转录病毒、痘苗病毒等动物病毒、杆状病毒等昆虫病原病毒等。
表达载体中可以添加启动子、增强子、剪接信号、多聚腺苷酸化信号、选择标记、SV40复制起点等。
另外,表达载体可以是融合蛋白表达载体。各种融合蛋白表达载体有市售品,可以例示pGEX系列(Amersham Pharmacia Biotech公司)、pET CBD融合系统34b-38b(Novagen公司)、pET Dsb融合系统39b和40b(Novagen公司)、pET GST融合系统41和42(Novagen公司)等。
通过将含有本发明的标志基因的DNA序列的载体(重组载体)导入到宿主细胞中,可以获得转化体。
作为宿主细胞,可以例示细菌细胞(例如,埃希氏属细菌、芽孢杆菌属细菌、枯草杆菌等)、真菌细胞(例如,酵母、曲霉等)、昆虫细胞(例如,S2细胞、Sf细胞等)、动物细胞(例如,CHO细胞、COS细胞、HeLa细胞、C127细胞、3T3细胞、BHK细胞、HEK293细胞等)、植物细胞等。
将重组载体导入到宿主中时,可以通过分子克隆(Molecular Cloning),第2版,J.Sambrook等,冷泉港实验室出版社,1989中所述的方法(例如,磷酸钙法、DEAE-葡聚糖法、转染法、微注射法、脂质体转染法、电穿孔法、转化法、划痕负载(scrape loading)法、鸟枪法等)或感染来进行。
将转化体在培养基中进行培养,可以从培养物中采集标志基因的DNA序列编码的多肽。在多肽被分泌到培养基中的情况下,回收培养基,并从该培养基中分离、纯化多肽即可。在多肽产生于转化的宿主细胞内的情况下,将该细胞溶解,从其溶解物中分离、纯化多肽即可。
在多肽以与其它蛋白质(作为标签起作用)的融合蛋白的形态表达的情况下,分离、纯化融合蛋白后,通过用Xa因子或酶(肠激酶)进行处理,将其它蛋白质切掉,可以得到目标多肽。
多肽的分离和纯化可以通过公知的方法进行。作为公知的分离、纯化方法,可以使用盐析、溶剂沉淀法等利用溶解度差的方法、透析法、超滤法、凝胶过滤法和SDS-聚丙烯酰胺凝胶电泳法等利用分子量差的方法、离子交换层析等利用电荷差的方法、亲和层析等利用特异的亲和性的方法、反相高效液相色谱等利用疏水性差的方法、等电点电泳法等利用等电点差的方法等。
实施例
以下,基于实施例详细地说明本发明,但本发明不限于这些实施例。
[实施例1]
NTG被认为是由于多种遗传因素多重作用而使发病风险度增高的多因素疾病。通过鉴定NTG的疾病易感性基因,并在此基础上开发出快速基因诊断试剂盒,可望实现NTG的早期发现乃至早期诊断。到目前为止,作为包括NTG在内的青光眼的疾病易感性基因,已经报道了MYOC基因、OPAl基因和OPTN基因等,但是这些基因均仅见于百分之几的青光眼患者,在日本人中几乎不表现出相关关系。因此,为了网罗性地鉴定NTG的疾病易感性基因,本发明人使用Affymetrix公司的基因芯片测绘500k阵列套组(GeneChip Mapping 500k Array set),一次高通量地进行50万以上的SNP分析,由此进行了以全基因组区域为对象的网罗性的基因筛选。另外,由于本研究的分析数据庞大,其容量用以往的数据库无法处理,因此进行了可应对使用大规模量的SNP的相关分析的SNP分析用数据库的开发。
(1)50万SNP分析用数据库的构建
统计学分析中使用的数据库通过将以往的数据库进行改变使其能够用于大规模SNP分型而制成。本发明人的研究室目前在SNP分析中使用的数据库为Taqman(注册商标)SNP基因分型分析用数据库,该数据库能够进行统计计算和Hardy-Weinberg检验。基于目前运行中的数据库管理系统,添加了如下新功能:(i)能够将基因芯片250k和500k的SNP分型输出文件(Text文件)以数据库输入用文件形式进行数据输入;(ii)能够将GTYPE中使用的SNP ID与rs编号、位置信息、附近的基因信息、各人种的已知等位基因信息(Hapmap)对应地进行管理;(iii)可任意指定Haploview以及其它各种分析软件的输入用文本格式,以输出文件形式获得;等,从而构建了能够进行收录数据和分析结果的检索、分类、提取显示的数据库。
(2)使用500k基因芯片的全基因组的网罗性SNP分析
收集横滨市立大学及共同研究医疗机构中满足年龄、眼压、屈光异常等严格标准的NTG患者血液白细胞。使用QIAamp血液DNA大量抽提试剂盒(QIAamp DNA Blood Maxi Kit)来抽提DNA。DNA芯片的分析方法按照Affymetrix公司的操作规程来进行。作为疾病易感性基因的筛选方法,进行了使用Affymetrix公司的基因芯片的人测绘500k阵列套组(Human Mapping 500k Array set)的SNP分析。基因芯片的测绘500k阵列套组包含2片高密度寡核苷酸阵列(250k阵列)、NspI和StyI,各阵列平均能够对25万SNP进行基因分型。测绘500k套组的全部SNP均接受了严格的筛选和评价实验。通过1次实验能够进行50万以上的SNP的基因分型,因此作为全基因组的网罗性分析工具有用。首先,使用PicoGreen定量试剂盒(PicoGreen ds DNA定量试剂和试剂盒,可供200-2000次测试)定量DNA浓度,将各样品的DNA制备为均等的浓度。然后,用限制性内切酶切割全基因组,并连接上识别4个碱基的特异性突出末端的衔接头。通过PCR扩增附加有衔接头的DNA片段,片段化并进行标记后,与测绘250k阵列杂交。通过荧光进行染色,用激光扫描仪由各探针的荧光强度,利用直接模型(DM:Direct Model)算法(DM算法)对各SNP的等位基因进行分析。根据所得的结果对每一SNP的患者组与健康组的等位基因分布进行统计学分析,从而确定与疾病相关的基因。实验精度和污染的评价通过改进的围绕中心点的划分聚类(modified partitioning aroundmethods,MPAM)算法(MPAM算法)进行。
对于NTG患者的266份样本,使用Affymetrix公司的GeneChip(注册商标)测绘500k阵列,完成了SNP分型。SNP的分型成功率(call rate)(恰当地进行了分析的SNP的比例)在NspI和StyI两个阵列中均平均为95%以上,显示出良好的分型精度。分别以255份患者样本、187份健康人样本为对象进行了统计分析,结果,16562个SNP的P值小于0.05,呈阳性。对这些SNP进行基因分型精度的评价,并且,为了评价基因型的分型错误和恰当性,进行Hardy-Weinberg检验,排除了不适合统计分析的SNP,结果最终有15729个SNP的P值小于0.05。在与疾病的相关性更为显著的P值小于0.00001的条件下,有24个SNP显示阳性。
将这些基因中满足以下3个条件的基因作为更重要的正常眼压性青光眼的疾病易感性基因。
1.与HapMap数据库进行比较,健康人的等位基因频率适当。
2.邻近的SNP也同样与疾病相关。
3.SNP位于基因上或基因附近。
关于第6号染色体的包含ELOVL5区域的0.5Mb,其结果示于表1和图1。
[表1]
关于第2号染色体的包含SRBD1区域的0.5Mb,其结果示于表2和图2。
[表2]
关于第3号染色体的包含ARPP-21区域的500Kb,其结果示于表3和图3。
[表3]
关于第4号染色体的包含EPHA5区域的500Kb,其结果示于表4和图4。
[表4]
关于第6号染色体的包含GMDS区域的1500Kb,其结果示于表5和图5。
[表5]
关于第6号染色体的包含6p21.3(包含HSPA1B)区域的500Kb,其结果示于表6和图6。
[表6]
关于第6号染色体的包含SYTL3区域的500Kb,其结果示于表7和图7。
[表7]
关于第7号染色体的包含NXPH1区域的500Kb,其结果示于表8和图8。
[表8]
关于第7号染色体的包含LHFPL3区域的500Kb,其结果示于表9和图9。
[表9]
关于第11号染色体的包含GLB1L3区域的300Kb,其结果示于表10和图10。
[表10]
关于第18号染色体的包含ZNF407区域的500Kb,其结果示于表11和图11。
[表11]
关于第1号染色体的包含PAX7区域的300Kb,其结果示于表12和图12。
[表12]
关于第1号染色体的包含PTPRF区域的300Kb,其结果示于表13和图13。
[表13]
关于第1号染色体的包含1q12-q21.1(包含CHD1L和/或FMO5)区域的500Kb,其结果示于表14和图14。
[表14]
关于第1号染色体的包含1q21.2-q21.3(包含FDPS和/或ASH1L和/或KCNN3)区域的3000Kb,其结果示于表15和图15。
[表15]
关于第1号染色体的包含FAM5B和/或ASTN1区域的300Kb,其结果示于表16和图16。
[表16]
关于第1号染色体的包含PKP1区域的300Kb,其结果示于表17和图17。
[表17]
关于第2号染色体的包含KLHL29、FLJ14126区域的500Kb,其结果示于表18和图18。
[表18]
关于第3号染色体的包含THRB区域的500Kb,其结果示于表19和图19。
[表19]
关于第3号染色体的包含MED12L和/或CLRN10S和/或GPR171区域的500Kb,其结果示于表20和图20。
[表20]
关于第4号染色体的包含SORBS2区域的500Kb,其结果示于表21和图21。
[表21]
关于第5号染色体的包含MAST4区域的600Kb,其结果示于表22和图22。
[表22]
关于第5号染色体的包含GLRX、C5orf27区域的200Kb,其结果示于表23和图23。
[表23]
关于第5号染色体的包含EBF1区域的500Kb,其结果示于表24和图24。
[表24]
关于第5号染色体的包含DOCK2区域的500Kb,其结果示于表25和图25。
[表25]
关于第6号染色体的包含6p21.31-p21.3(包含HLA-DPA1)区域的1000Kb,其结果示于表26和图26。
[表26]
关于第6号染色体的包含LOC100132919区域的200Kb,其结果示于表27和图27。
[表27]
关于第7号染色体的包含AAA1、NPSR1区域的600Kb,其结果示于表28和图28。
[表28]
关于第7号染色体的包含ELMO1区域的700Kb,其结果示于表29和图29。
[表29]
关于第8号染色体的包含TNKS区域的500Kb,其结果示于表30和图30。
[表30]
关于第8号染色体的包含ANGPT1区域的500Kb,其结果示于表31和图31。
[表31]
关于第9号染色体的包含PGM5区域的200Kb,其结果示于表32和图32。
[表32]
关于第9号染色体的包含TMC1区域的500Kb,其结果示于表33和图33。
[表33]
关于第9号染色体的包含ROR2区域的500Kb,其结果示于表34和图34。
[表34]
关于第9号染色体的包含PPP6C、C9orf126区域的500Kb,其结果示于表35和图35。
[表35]
关于第10号染色体的包含GRID1区域的1000Kb,其结果示于表36和图36。
[表36]
关于第11号染色体的包含11p11.2(包含SPI1和/或SLC39A13和/或PSMC3和/或RAPSN和/或NUP160)区域的1000Kb,其结果示于表37和图37。
[表37]
关于第11号染色体的包含OR5R1区域的200Kb,其结果示于表38和图38。
[表38]
关于第11号染色体的包含MS4A7、MS4A14区域的300Kb,其结果示于表39和图39。
[表39]
关于第11号染色体的包含MAP6和/或GDPD5和/或SERPINH1区域的300Kb,其结果示于表40和图40。
[表40]
关于第11号染色体的包含11q23-24(PCSK7、RNF214)区域的200Kb,其结果示于表41和图41。
[表41]
关于第12号染色体的包含TAOK3区域的500Kb,其结果示于表42和图42。
[表42]
关于第12号染色体的包含STX2区域的300Kb,其结果示于表43和图43。
[表43]
关于第13号染色体的包含CARS2区域的300Kb,其结果示于表44和图44。
[表44]
关于第15号染色体的包含CYP19A1区域的500Kb,其结果示于表45和图45。
[表45]
关于第17号染色体的包含CA10区域的700Kb,其结果示于表46和图46。
[表46]
关于第18号染色体的包含LOC643542区域的500Kb,其结果示于表47和图47。
[表47]
关于第20号染色体的包含PTPRT区域的1200Kb,其结果示于表48和图48。
[表48]
关于第21号染色体的包含ITSN1区域的500Kb,其结果示于表49和图49。
[表49]
关于第2号染色体的包含LRP2区域的500Kb,其结果示于表50和图50。
[表50]
关于第11号染色体的包含APIP、PDHX区域的300Kb,其结果示于表51和图51。
[表51]
关于第12号染色体的包含CUX2区域的500Kb,其结果示于表52和图52。
[表52]
关于第17号染色体的包含TOM1L1区域的200Kb,其结果示于表53和图53。
[表53]
表2~53中的Rs Id表示rs编号,Chromosome表示染色体,Position表示NCBI(v36.1)编号,Astat2 P Value(2x2)表示p值。
本说明书中引用的全部发行物、专利和专利申请作为参考直接并入本说明书中。
产业实用性
本发明可用于生命科学、医学、眼科学和诊断。
现有技术文献
非专利文献
非专利文献1:Yasuda N,Nakamoto K,Funayama T,Mashima Y.[Low penetrance of His26Asp mutation in the optineurin gene in a Japanese family with normal-tension glaucoma].Nippon Ganka Gakkai Zasshi 2006;110:594-600.
非专利文献2:Yao HY,Cheng CY,Fan BJ,et al.[Polymorphisms of myocilin and optineurin in primary open angle glaucoma patients].Zhonghua Yi Xue Za Zhi 2006;86:554-9.
非专利文献3:Craig JE,Hewitt AW,Dimasi DP,et al.The role of the Met98Lys optineurin variant in inherited optic nerve diseases.Br J Ophthalmol 2006;90:1420-4.
非专利文献4:Weisschuh N,Neumann D,Wolf C,Wissinger B,Gramer E.Prevalence of myocilin and optineurin sequence variants in German normal tension glaucoma patients.Mol Vis 2005;11:284-7.
非专利文献5:Fan BJ,Wang DY,Fan DS,et al.SNPs and interaction analyses of myocilin,optineurin,and apolipoprotein E in primary open angle glaucoma patients.Mol Vis 2005;11:625-31.
非专利文献6:Gong G,Kosoko-Lasaki O,Haynatzki GR,Wilson MR.Genetic dissection of myocilin glaucoma.Hum Mol Genet 2004;13Spec No 1:R91-102.
非专利文献7:Izumi K,Mashima Y,Obazawa M,et al.Variants of the myocilin gene in Japanese patients with normal-tension glaucoma.Ophthalmic Res 2003;35:345-50.
非专利文献8:Takahashi H,Ohtake Y,Kubota R,et al.[Two families with primary open-angle glaucoma associated with myocilin gene mutations].Nippon Ganka Gakkai Zasshi 2002;106:201-7.
非专利文献9:Michels-Rautenstrauss K,Mardin C,Wakili N,et al.Novel mutations in the MYOC/GLC1A gene in a large group of glaucoma patients.Hum Mutat 2002;20:479-80.
非专利文献10:Fingert JH,Stone EM,Sheffield VC,Alward WL.Myocilin glaucoma.Surv Ophthalmol 2002;47:547-61.
非专利文献11:Mabuchi F,Yamagata Z,Kashiwagi K,Tang S,Iijima H,Tsukahara S.Analysis of myocilin gene mutations in Japanese patients with normal tension glaucoma and primary open-angle glaucoma.Clin Genet 2001;59:263-8.
非专利文献12:Kitazawa Y.[Open-angle glaucoma clinical presentation and management].Nippon Ganka Gakkai Zasshi 2001;105:828-42.
非专利文献13:Kubota R,Mashima Y,Ohtake Y,et al.Novel mutations in the myocilin gene in Japanese glaucoma patients.Hum Mutat 2000;16:270.
非专利文献14:Mardin CY,Velten I,Ozbey S,Rautenstrauss B,Michels-Rautenstrauss K.A GLC1A gene Gln368Stop mutation in a patient with normal-tension open-angle glaucoma.J Glaucoma 1999;8:154-6.
非专利文献15:Bennett SR,Alward WL,Folberg R.An autosomal dominant form of low-tension glaucoma.Am J Ophthalmol 1989;108:238-44.
非专利文献16:Ayala-Lugo RM,Pawar H,Reed DM,et al.Variation in optineurin(OPTN)allele frequencies between and within populations.Mol Vis 2007;13:151-63.
非专利文献17:Yao HY,Cheng CY,Fan BJ,et al.[Polymorphisms of myocilin and optineurin in primary open angle glaucoma patients].Zhonghua Yi Xue Za Zhi 2006;86:554-9.
非专利文献18:Sripriya S,Nirmaladevi J,George R,et al.OPTN gene:profile of patients with glaucoma from India.Mol Vis 2006;12:816-20.
非专利文献19:Craig JE,Hewitt AW,Dimasi DP,et al.The role of the Met98Lys optineurin variant in inherited optic nerve diseases.Br J Ophthalmol 2006;90:1420-4.
非专利文献20:Weisschuh N,Neumann D,Wolf C,Wissinger B,Gramer E.Prevalence of myocilin and optineurin sequence variants in German normal tension glaucoma patients.Mol Vis 2005;11:284-7.
非专利文献21:Fan BJ,Wang DY,Fan DS,et al.SNPs and interaction analyses of myocilin,optineurin,and apolipoprotein E in primary open angle glaucoma patients.Mol Vis 2005;11:625-31.
非专利文献22:Aung T,Rezaie T,Okada K,et al.Clinical features and course of patients with glaucoma with the E50K mutation in the optineurin gene.Invest Ophthalmol Vis Sci 2005;46:2816-22.
非专利文献23:Umeda T,Matsuo T,Nagayama M,Tamura N,Tanabe Y,Ohtsuki H.Clinical relevance of optineurin sequence alterations in Japanese glaucoma patients.Ophthalmic Genet 2004;25:91-9.
非专利文献24:Toda Y,Tang S,Kashiwagi K,et al.Mutations in the optineurin gene in Japanese patients with primary open-angle glaucoma and normal tension glaucoma.Am J Med Genet A 2004;125A:1-4.
非专利文献25:Gong G,Kosoko-Lasaki O,Haynatzki GR,Wilson MR.Genetic dissection of myocilin glaucoma.Hum Mol Genet 2004;13 Spec No 1:R91-102.
非专利文献26:Fuse N,Takahashi K,Akiyama H,et al.Molecular genetic analysis of optineurin gene for primary open-angle and normal tension glaucoma in the Japanese population.J Glaucoma 2004;13:299-303.
非专利文献27:Funayama T,Ishikawa K,Ohtake Y,et al.Variants in optineurin gene and their association with tumor necrosis factor-alpha polymorphisms in Japanese patients with glaucoma.Invest Ophthalmol Vis Sci 2004;45:4359-67.
非专利文献28:Baird PN,Richardson AJ,Craig JE,Mackey DA,Rochtchina E,Mitchell P.Analysis of optineurin(OPTN)gene mutations in subjects with and without glaucoma:the Blue Mountains Eye Study.Clin Experiment Ophthalmol 2004;32:518-22.
非专利文献29:Tang S,Toda Y,Kashiwagi K,et al.The association between Japanese primary open-angle glaucoma and normal tension glaucoma patients and the optineurin gene.Hum Genet 2003;113:276-9.
非专利文献30:Alward WL,Kwon YH,Kawase K,et al.Evaluation of optineurin sequence variations in 1,048 patients with open-angle glaucoma.Am J Ophthalmol 2003;136:904-10.
非专利文献31:Mabuchi F,Tang S,Kashiwagi K,Yamagata Z,Iijima H,Tsukahara S.The OPA1 gene polymorphism is associated with normal tension and high tension glaucoma.Am J Ophthalmol 2007;143:125-130.
非专利文献32:Liu Y,Schmidt S,Qin X,et al.No association between OPA1 polymorphisms and primary open-angle glaucoma in three different populations.Mol Vis 2007;13:2137-41.
非专利文献33:Yao W,Jiao X,Hejtmancik JF,Leske MC,Hennis A,Nemesure B.Evaluation of the association between OPA1 polymorphisms and primary open-angle glaucoma in Barbados families.Mol Vis 2006;12:649-54.
非专利文献34:Woo SJ,Kim DM,Kim JY,Park SS,Ko HS,Yoo T.Investigation of the association between OPA1 polymorphisms and normal-tension glaucoma in Korea.J Glaucoma 2004;13:492-5.
非专利文献35:Carelli V,Ross-Cisneros FN,Sadun AA.Mitochondrial dysfunction as a cause of optic neuropathies.Prog Retin Eye Res 2004;23:53-89.
非专利文献36:Votruba M,Thiselton D,Bhattacharya SS.Optic disc morphology of patients with OPA1 autosomal dominant optic atrophy.Br J Ophthalmol 2003;87:48-53.
非专利文献37:Powell BL,Toomes C,Scott S,et al.Polymorphisms in OPA1 are associated with normal tension glaucoma.Mol Vis 2003;9:460-4.
非专利文献38:Aung T,Okada K,Poinoosawmy D,et al.The phenotype of normal tension glaucoma patients with and without OPA1 polymorphisms.Br J Ophthalmol 2003;87:149-52.
非专利文献39:Buono LM,Foroozan R,Sergott RC,Savino PJ.Is normal tension glaucoma actually an unrecognized hereditary optic neuropathy?New evidence from genetic analysis.Curr Opin Ophthalmol 2002;13:362-70.
非专利文献40:Aung T,Ocaka L,Ebenezer ND,et al.A major marker for normal tension glaucoma:association with polymorphisms in the OPA1 gene.Hum Genet 2002;110:52-6.
非专利文献41:Aung T,Ocaka L,Ebenezer ND,et al.Investigating the association between OPA1 polymorphisms and glaucoma:comparison between normal tension and high tension primary open angle glaucoma.Hum Genet 2002;110:513-4.
Claims (10)
1.一种正常眼压性青光眼的检查方法,其中,包括对多态性位点的碱基进行鉴定,所述多态性位点为从由人第6号染色体的包含ELOVL5的区域、人第2号染色体的包含SRBD1的区域、人第3号染色体的包含ARPP-21的区域、人第4号染色体的包含EPHA5的区域、人第6号染色体的包含GMDS的区域、人第6号染色体的包含6p21.3的区域、人第6号染色体的包含SYTL3的区域、人第7号染色体的包含NXPH1的区域、人第7号染色体的包含LHFPL3的区域、人第11号染色体的包含GLB1L3的区域、人第18号染色体的包含ZNF407的区域、人第1号染色体的包含PAX7的区域、人第1号染色体的包含PTPRF的区域、人第1号染色体的包含1q12-q21.1的区域、人第1号染色体的包含1q21.2-q21.3的区域、人第1号染色体的包含FAM5B和/或ASTN1的区域、人第1号染色体的包含PKP1的区域、人第2号染色体的包含KLHL29和/或FLJ14126的区域、人第3号染色体的包含THRB的区域、人第3号染色体的包含MED12L和/或CLRN10S和/或GPR171的区域、人第4号染色体的包含SORBS2的区域、人第5号染色体的包含MAST4的区域、人第5号染色体的包含GLRX和/或C5orf27的区域、人第5号染色体的包含EBF1的区域、人第5号染色体的包含DOCK2的区域、人第6号染色体的包含6p21.31-p21.3的区域、人第6号染色体的包含LOC100132919的区域、人第7号染色体的包含AAA1和/或NPSR1的区域、人第7号染色体的包含ELMO1的区域、人第8号染色体的包含TNKS的区域、人第8号染色体的包含ANGPT1的区域、人第9号染色体的包含PGM5的区域、人第9号染色体的包含TMC1的区域、人第9号染色体的包含ROR2的区域、人第9号染色体的包含PPP6C和/或C9orf126的区域、人第10号染色体的包含GRID1的区域、人第11号染色体的包含11p11.2的区域、人第11号染色体的包含OR5R1的区域、人第11号染色体的包含MS4A7和/或MS4A14的区域、人第11号染色体的包含MAP6和/或GDPD5和/或SERPINH1的区域、人第11号染色体的包含11q23-24的区域、人第12号染色体的包含TAOK3的区域、人第12号染色体的包含STX2的区域、人第13号染色体的包含CARS2的区域、人第15号染色体的包含CYP19A1的区域、人第17号染色体的包含CA10的区域、人第18号染色体的包含LOC643542的区域、人第20号染色体的包含PTPRT的区域、人第21号染色体的包含ITSN1的区域、人第2号染色体的包含LRP2的区域、人第11号染色体的包含APIP和/或PDHX的区域、人第12号染色体的包含CUX2的区域、以及人第17号染色体的包含TOM1L1的区域组成的组中选择的至少一个区域中的至少一个多态性位点,所述6p21.3包含HSPA1B,所述1q12-q21.1包含CHD1L和/或FMO5,所述1q21.2-q21.3包含FDPS和/或ASH1L和/或KCNN3,所述6p21.31-p21.3包含HLA-DPA1,所述11p11.2包含SPI1和/或SLC39A13和/或PSMC3和/或RAPSN和/或NUP160,所述11q23-24包含PCSK7和/或RNF214。
2.如权利要求1所述的检查方法,其中,
人第6号染色体的包含ELOVL5的区域中的多态性位点选自由单核苷酸多态性国际编号rs222450、rs9474394、rs2816344、rs2816341、rs2518579、rs2518578、rs9367511、rs6915699、rs6930045、rs9370188、rs9382180、rs9382181、rs4486010、rs2816379、rs6939730、rs2817088、rs2817090、rs2816372、rs2562895、rs2816364、rs2562893、rs2817101、rs2816362、rs2816356、rs10948744、rs12183976、rs2562898、rs735860、rs715441、rs2057024、rs1429146、rs9463895、rs2235723、rs1346603、rs9474476、rs2294867、rs9349660、rs974323、rs6909592、rs9367520、rs9395854、rs209485、rs9395856、rs7747926、rs7738788、rs209500、rs9357760、rs9370196、rs209512、rs209517、rs9370201、rs9367529、rs12209741、rs7744451、rs6904083、rs6904376、rs9367532、rs2067833、rs9382212、rs2139077、rs2397146、rs7742367、rs9474576、rs622447、rs3736729、rs13212365和rs761141组成的组,
人第2号染色体的包含SRBD1的区域中的多态性位点选自由单核苷酸多态性国际编号rs11686431、rs7580559、rs3908093、rs2343412、rs12623996、rs7573149、rs918810、rs6721199、rs7579209、rs10194925、rs17033378、rs2343466、rs17033398、rs6737172、rs4953226、rs3851333、rs12473388、rs11681887、rs35608719、rs11888802、rs11678872、rs2343468、rs13003019、rs6760244、rs12471726、rs2081297、rs10460504、rs7562458、rs4953230、rs4952763、rs6719211、rs1014454、rs3755070、rs3213787、rs10210691、rs3770251、rs4455206、rs3755076、rs3770254、rs11125017、rs3770264、rs10205197、rs10427308、rs17033745、rs3770278、rs17322370、rs6736954、rs10427402、rs4476395、rs13023749、rs17033801、rs755652、rs748573、rs6708810、rs6710581、rs12712945、rs17033871、rs3755082、rs6544840、rs7599740、rs11884064、rs7596942、rs7565326、rs17323037、rs1916231、rs1517001、rs1522988、rs614281、rs582213、rs650508、rs666334、rs17033965、rs556650、rs2204204、rs3795863、rs2285024、rs505310、rs10490342、rs612717、rs10490341、rs656823、rs563601、rs609573、rs6746467、rs637889、rs10495926、rs1522986、rs1522987、rs6544843和rs6724488组成的组,
人第3号染色体的包含ARPP-21的区域中的多态性位点选自由单核苷酸多态性国际编号rs1523048、rs1523029、rs12487524、rs1403468、rs872133、rs1523040、rs1523041、rs13069451、rs12629480、rs1357449、rs6801949、rs17033355、rs9873254、rs9839823、rs6794354、rs6794373、rs12637211、rs9855328、rs2037538、rs2037539、rs1523038、rs11718271、rs1608314、rs2197728、rs9311101、rs10490870、rs17033506、rs12634096、rs2359774、rs9860326、rs4678788、rs3213953、rs6799641、rs17201627、rs4678789、rs12632607、rs11129660、rs11129662、rs17033672、rs17280201、rs6779091、rs3772395、rs9872664、rs1963934、rs35102908、rs4678802、rs4678803、rs6550367、rs17033738、rs6801590、rs17033748、rs9865772、rs17033755、rs17228111、rs2016955、rs2016975、rs735353、rs11920715、rs1378481、rs17814981、rs1455489、rs4678509、rs10510667、rs6799649、rs6799609、rs17033836、rs4234248、rs6770245、rs10865865、rs7615307、rs9845811、rs17033961、rs1488092、rs10461001和rs17033999组成的组,
人第4号染色体的包含EPHA5的区域中的多态性位点选自由单核苷酸多态性国际编号rs371925、rs4241661、rs170654、rs1514271、rs2063419、rs13102419、rs11131589、rs2167320、rs1159057、rs12501311、rs17086016、rs961489、rs7684130、rs3749526、rs4860651、rs11938753、rs1376417、rs10025570、rs1376416、rs2084682、rs7658065、rs9312144、rs1376412、rs17086181、rs17086185、rs6847413、rs2198103、rs12509018、rs17082122、rs6823779、rs17086224、rs1451170、rs4289492、rs4371663、rs9986026、rs9991256、rs4267782、rs7660334、rs6815080、rs11737314、rs4365778、rs7673091、rs4320185、rs4604104、rs7684022、rs4860679、rs6844942、rs12644315、rs4599467、rs6834811、rs4320186、rs4487412、rs7667410、rs4611975、rs4370201、rs4438803和rs4608860组成的组,
人第6号染色体的包含GMDS的区域中的多态性位点选自由单核苷酸多态性国际编号rs11966212、rs2143396、rs6911992、rs9378593、rs9392253、rs9378594、rs2050158、rs9391900、rs6596786、rs2235706、rs9378596、rs1997773、rs6926322、rs7754106、rs7750178、rs742520、rs2210370、rs6940618、rs349100、rs9405444、rs6932005、rs4959523、rs10484953、rs464778、rs115705、rs1013185、rs11242672、rs463641、rs4959525、rs369656、rs459162、rs127091、rs4959530、rs463264、rs7757477、rs448915、rs444018、rs443971、rs9391913、rs238048、rs238050、rs9378605、rs2459602、rs2438074、rs12191625、rs2438077、rs2496292、rs2496301、rs2438083、rs977674、rs977673、rs17259747、rs1437288、rs7772349、rs6596805、rs1347656、rs6925983、rs1550199、rs11242676、rs7744559、rs11966550、rs9378290、rs9405136、rs9405470、rs9392285、rs9405137、rs9405471、rs746095、rs9378623、rs9378292、rs1711957、rs7742720、rs9378629、rs7741690、rs9328052、rs9328053、rs1922938、rs2745636、rs2816242、rs932410、rs1474721、rs9392296、rs9502950、rs6907725、rs9405484、rs4443540、rs4355648、rs9328058、rs9328059、rs2569866、rs6935712、rs6935896、rs6937266、rs6925228、rs11242704、rs2816286、rs2816287、rs6596833、rs2317965、rs2873591、rs2569835、rs2745567、rs2493160、rs2317966、rs9392305、rs9501738、rs2569839、rs9328061、rs9378300、rs2816221、rs6916316、rs2281272、rs2569824、rs9405496、rs1810496、rs2814827、rs7759035、rs9502997、rs2814811、rs2317964、rs9378304、rs2569854、rs12206340、rs4538755、rs9378305、rs9503011、rs9405505、rs9503015、rs9501762、rs9405506、rs12197419、rs7765344、rs7765461、rs1013303、rs3800046、rs689035、rs2318108、rs6919059、rs6928276、rs226456、rs9378314、rs1157673、rs1157675、rs9391933、rs9328071、rs3778533、rs1028714、rs3800094、rs3778539、rs6596857、rs7776397、rs6596858、rs9378661、rs3823279、rs3800122、rs10484693、rs17772389、rs4959160、rs3778555、rs4463305、rs3800140、rs17134506、rs3800142、rs3800143、rs3800144、rs3800146、rs2761234、rs9405156、rs17134549、rs1408002、rs1830733、rs1830734、rs10223785、rs9405157、rs7772545、rs6596866、rs4959621、rs4412249、rs4367413、rs11242729、rs6925298、rs12212324、rs9392353、rs11242730、rs4580917、rs6910252、rs11242733、rs9503080、rs11242735、rs476594、rs9378676、rs676015、rs2026446、rs4959631、rs17134693、rs3800156、rs11242740、rs4959635、rs3800159、rs3778557、rs3800168、rs4959642、rs234930、rs9392372、rs234915、rs234914、rs3800184、rs234932、rs6903476、rs3778568、rs9405550、rs17134819、rs3823287、rs1196396、rs1684153、rs9328087、rs2479003、rs2479004、rs2505678、rs2479008、rs2505674、rs7766115、rs4959648、rs4413658、rs7449538、rs9503158、rs6902556、rs6925653、rs4281006、rs12210286、rs12213061、rs4959663、rs9501836、rs6911665、rs13200914、rs17135028、rs4959184、rs11242770、rs9328099、rs12206851、rs6904395、rs17609498、rs742487、rs4959185、rs9391949、rs9391950、rs6899721、rs1610416、rs3924452、rs10458144、rs9501850、rs9503199、rs4959677、rs35374935、rs2449448、rs1772982、rs1680885、rs2794569、rs2624936、rs12196957、rs2624933、rs1773000、rs1773001、rs1614248、rs1616044、rs2624917、rs2624916和rs6899711组成的组,
人第6号染色体的包含6p21.3的区域中的多态性位点选自由单核苷酸多态性国际编号rs2248373、rs2248459、rs2248462、rs2248617、rs3749946、rs2523650、rs2904776、rs2516422、rs2905747、rs9267247、rs2395034、rs3095229、rs3131631、rs2516486、rs2734573、rs3115537、rs2516478、rs2071593、rs3219183、rs13215091、rs1799964、rs1052248、rs9348876、rs2857697、rs2736172、rs1046089、rs2255741、rs760293、rs2077102、rs3130048、rs2844463、rs805301、rs805300、rs805297、rs707921、rs2242655、rs707974、rs805268、rs805267、rs9378164、rs707918、rs805292、rs2299851、rs707939、rs707937、rs480092、rs2075800、rs2763979、rs11965547、rs486416、rs644045、rs537160、rs2072633、rs522162、rs550513、rs9296003、rs406936和rs492899组成的组,所述6p21.3包含HSPA1B,
人第6号染色体的包含SYTL3的区域中的多态性位点选自由单核苷酸多态性国际编号rs602698、rs678116、rs649930、rs643677、rs592698、rs675053、rs612557、rs629364、rs627967、rs628203、rs2771425、rs9355655、rs10499309、rs1041566、rs12530454、rs7753885、rs9347236、rs6455585、rs6931414、rs10447366、rs9457403、rs9355246、rs4709219、rs4708797、rs4709226、rs4709235、rs6925091、rs3799195、rs6913912、rs894124、rs6903405、rs6901469、rs9364496、rs7759006、rs6455600、rs2129209、rs6455601、rs9456350、rs3123094、rs9456352、rs3102970、rs6455604、rs3127188、rs3127194、rs3127196、rs3102966、rs3127168、rs923198、rs6924755、rs2361472、rs4569991、rs9457516、rs9456363、rs9365009、rs3923902和rs12207795组成的组,
人第7号染色体的包含NXPH1的区域中的多态性位点选自由单核苷酸多态性国际编号rs3807826、rs7802863、rs3757521、rs3757520、rs3807823、rs1861032、rs17145870、rs7805508、rs6977682、rs3807815、rs1008038、rs3807811、rs11769978、rs3779356、rs3807807、rs3807806、rs7455929、rs6463790、rs4620183、rs12668479、rs17147407、rs11762595、rs12702719、rs17147608、rs12154895、rs17403198、rs16873367、rs42949、rs2349188、rs6463805、rs7811039、rs10247446、rs10270530、rs7795595、rs6945018、rs17148966、rs1476623、rs10246412、rs17404198、rs6463813、rs17149337、rs17404218、rs11976158、rs10244689、rs6978212、rs757704、rs2214694、rs2189904、rs765855、rs17150199、rs10261060、rs4401754、rs10266489、rs5018942、rs4556000、rs10278603、rs7787432、rs6959052、rs17150410、rs17150472、rs17150479、rs17150761、rs10237485、rs4720785、rs972247、rs1859274、rs10238726、rs6970999、rs17151821、rs7456267、rs6963180、rs10257265、rs970526、rs977458、rs13240427和rs17154007、以及NCBI(v36.1)8484291组成的组,
人第7号染色体的包含LHFPL3的区域中的多态性位点选自由单核苷酸多态性国际编号rs41521、rs2188486、rs977641、rs17389507、rs10274138、rs17136882、rs13234807、rs7794181、rs7787988、rs7787976、rs17331134、rs1557689、rs6465984、rs7798273、rs2188494、rs1468143、rs10953427、rs2214087、rs4730006、rs6952170、rs17137313、rs4727599、rs17137382、rs10228106、rs42181、rs4730010、rs11763758、rs17137711、rs11763095、rs6977743、rs4520098、rs10216261、rs11972050、rs12539136、rs756669、rs41037、rs41038、rs28253、rs41058、rs9649272、rs6949801、rs9987005、rs6465994、rs6465995、rs1477110、rs12216618、rs10254402、rs6969323、rs9641335、rs10272959、rs3919550、rs4730030、rs10246540、rs4730031、rs2891730、rs995661、rs10487221、rs10487222、rs11773248、rs11983223、rs6943307、rs7782065、rs7801387、rs12705261、rs12531723、rs17269890、rs4730038、rs4584085、rs10216010、rs17141284、rs17141299、rs10953450、rs6466018、rs4530975、rs12705276、rs4283980和rs2470965、以及NCBI(v36.1)103849313、104068646和104196627组成的组,
人第11号染色体的包含GLB1L3的区域中的多态性位点选自由单核苷酸多态性国际编号rs11223704、rs470713、rs470935、rs641024、rs11606866、rs7131644、rs10894784、rs1031381、rs522134、rs4362160、rs473041、rs498602、rs554874、rs1144225、rs1595895、rs1146192、rs4936229、rs1144219、rs2510356、rs553231、rs512359、rs568044、rs10894798、rs10894799、rs11223765、rs10894800、rs7940114、rs10894801、rs10791357、rs3741100、rs3741098、rs7113199、rs1866769、rs1866768和rs1561613组成的组,
人第18号染色体的包含ZNF407的区域中的多态性位点选自由单核苷酸多态性国际编号rs3794941、rs17055278、rs514931、rs494721、rs17055426、rs2896769、rs12717033、rs7227977、rs10871527、rs10514139、rs17832851、rs17055756、rs1473224、rs2628125、rs8085262、rs8089151、rs2628123、rs4891199、rs17055919、rs10514148、rs17055185、rs2404482、rs10514149、rs4337381、rs2959165、rs12456768、rs4891217、rs9945585、rs9961644、rs9961742、rs9952375、rs13381156、rs9319675、rs2120144、rs8096648、rs17056218、rs2289609、rs4891228、rs1396098、rs894575、rs10871567、rs7242893和rs7239800组成的组,
人第1号染色体的包含PAX7的区域中的多态性位点选自由单核苷酸多态性国际编号rs3000058、rs2816030、rs16862061、rs2816040、rs2816046、rs4920334、rs4920516、rs4920335、rs2816064、rs6704504、rs1934057、rs2298893、rs2743208、rs2076021、rs2076020、rs2236826、rs2282704、rs2282699、rs624761、rs851123、rs2236817、rs685300、rs2056446、rs2841078、rs4920344、rs6669544、rs4076925、rs6603910、rs11261070、rs7539659、rs11261074、rs7411058、rs4920545、rs6684577和rs12565195组成的组,
人第1号染色体的包含PTPRF的区域中的多态性位点选自由单核苷酸多态性国际编号rs2494997、rs1999674、rs2842180、rs2255632、rs2251804、rs1334973、rs6687571、rs2039528、rs2819341、rs10890251、rs2367617、rs11210864、rs2782641、rs11210871、rs10890257、rs12058744、rs11210879、rs11210886、rs516790、rs641365、rs673485、rs643445、rs10789438、rs11210892、rs617521、rs660899、rs2274465、rs10789439、rs489319、rs607062、rs10789442和rs3791035、以及NCBI(v36.1)43760103组成的组,
人第1号染色体的包含1q12-q21.1的区域中的多态性位点选自由单核苷酸多态性国际编号rs2355388、rs6686200、rs12122453、rs12122534、rs4950474、rs4950475、rs6593810、rs6657631、rs21327、rs517201、rs575115、rs2031481、rs2477568、rs2477569、rs692963、rs535827、rs4950361、rs6593732、rs17359526、rs6693631、rs11811023、rs4950371、rs2304893、rs6593739、rs7525703、rs2883434、rs2077749、rs17159914、rs6593745、rs2120003、rs10900325、rs2354432、rs6670503、rs1470261、rs6703187、rs10793652、rs7537483、rs7537703、rs1890038、rs3820130、rs3737845、rs17160062、rs3766525、rs4950315、rs17356240、rs10494244、rs6683839、rs10793656、rs17360443、rs3753433、rs12033407、rs7554833、rs10793661、rs10736837、rs10900336、rs7520661、rs4950409、rs2353983、rs6658836、rs17360812、rs6656156、rs12759145、rs12049491、rs10793682、rs4950431、rs7539416、rs2353969、rs4504949、rs17160205、rs2353967、rs12728058、rs6688308、rs11589438、rs6688154、rs6678706、rs4950436、rs7519891、rs11240053、rs11240054、rs11240055、rs7556087、rs7518276、rs2644579、rs2353951、rs2644577、rs6674761、rs2644566、rs2803535、rs17160256、rs12406844、rs17160264、rs612963、rs586000、rs17160295、rs644550和rs17160305组成的组,所述1q12-q21.1包含CHD1L和/或FMO5,
人第1号染色体的包含1q21.2-q21.3的区域中的多态性位点选自由单核苷酸多态性国际编号rs10752613、rs11583896、rs16835600、rs4434872、rs4567311、rs4363451、rs9427232、rs4845576、rs4520447、rs4845578、rs11585416、rs4845584、rs12033835、rs11581644、rs10908557、rs6701341、rs2297898、rs12048137、rs11264875、rs2066134、rs2494663、rs6671166、rs4845600、rs16835819、rs4521985、rs4620534、rs9803857、rs11265310、rs2340473、rs1194596、rs1212352、rs6672010、rs6702754、rs2274988、rs2297607、rs4414034、rs6696089、rs11265607、rs6427631、rs6427658、rs6694817、rs4537545、rs4845626、rs11265618、rs10752641、rs4240872、rs4474240、rs6700296、rs11265627、rs6691727、rs6687112、rs6427716、rs12136771、rs7553602、rs6660775、rs1127314、rs1127313、rs2131902、rs2229857、rs3766923、rs3766922、rs12125166、rs2335230、rs7531982、rs7533471、rs11264233、rs10796927、rs2335252、rs2036627、rs6699979、rs1995662、rs6664817、rs11264249、rs6426905、rs960182、rs16836320、rs868108、rs4845390、rs10494300、rs1051614、rs6666341、rs11808053、rs883319、rs1777910、rs951240v、rs951241、rs9970364、rs1984285、rs6681725、rs16836414、rs10796934、rs10908445、rs4845678、rs4845679、rs4845681、rs12130132、rs10908448、rs4845690、rs4845406、rs10908455、rs7368345、rs10908456、rs4971079、rs4276913、rs11264339、rs3768566、rs11264345、rs7520184、rs12032720、rs11264359、rs11264363、rs5005770、rs1325908、rs11264375、rs475550、rs821551、rs822490、rs822519、rs822508、rs1749405、rs1749409、rs572609、rs3768280、rs2275078、rs2016251、rs1475766、rs12035615、rs4661146、rs6700693、rs10908489、rs11264449、rs2253677、rs2241110、rs2853641、rs2075163、rs2241107、rs1052053、rs1052067、rs759330、rs7542798、rs2253358、rs2842880、rs16837272、rs2287023、rs2246476、rs2248273、rs11264467、rs7522860、rs10908500、rs10494304、rs3795730、rs3762281、rs35478936、rs2274226、rs2985714、rs2842854、rs954916、rs6686886、rs11590409、rs4661040、rs7551781、rs16837376、rs11806983、rs1109751、rs11264486、rs3790458、rs1342442、rs12136856、rs10159180、rs1171564、rs1609666、rs728918、rs11264495、rs744224、rs4661184、rs879461、rs12742817、rs3795736、rs2236601、rs1046650和rs3795737组成的组,所述1q21.2-q21.3包含FDPS和/或ASH1L和/或KCNN3,所述1q21.2-q21.3包含FDPS和/或ASH1L和/或KCNN3,
人第1号染色体的包含FAM5B和/或ASTN1的区域中的多态性位点选自由单核苷酸多态性国际编号rs7521610、rs16850728、rs227521、rs227519、rs10047146、rs10489307、rs972484、rs1402640、rs10913291、rs12094495、rs10798503、rs6425414、rs7515582、rs10913294、rs7534953、rs10913295、rs725416、rs12090000、rs12564343、rs12031932、rs12079554、rs554454、rs6660903、rs10913300、rs760689、rs6683060、rs926319、rs6699955、rs10798508、rs2139876、rs16851037、rs17315298、rs2861972、rs1883243、rs6660559、rs4652245、rs4140633、rs7528533、rs3946142、rs6658794、rs9425456、rs6672376、和rs12025407组成的组,
人第1号染色体的包含PKP1的区域中的多态性位点选自由单核苷酸多态性国际编号rs1122396、rs1722755、rs6413916、rs831771、rs1404401、rs831767、rs16847944、rs831765、rs16847947、rs831764、rs16847951、rs831762、rs831753、rs16847994、rs831751、rs4915220、rs10157719、rs947379、rs12466、rs1592085、rs4915499、rs12134467、rs10158798、rs1954214、rs12046907、rs10920161、rs12117501、rs1997018、rs1880450、rs1857489、rs16848184、rs868381、rs854488、rs832169、rs832174、rs700469、rs860554、rs1779301、rs2300293、rs2268156、rs832147、rs854502、rs1722780、rs1779293、rs854505、rs1572968、rs17425876、rs12143423、rs947377、rs10753899、rs17459837、rs6427900、rs1122481、rs2275862、rs11806184、rs2365652、rs2275860、rs947485、rs6671391、rs1256941、rs10800779、rs7553988、rs10920205、rs3887566、rs3888929、rs6427908和rs12090950组成的组,
人第2号染色体的包含KLHL29和/或FLJ14126的区域中的多态性位点选自由单核苷酸多态性国际编号rs2577720、rs2723120、rs10495742、rs2577717、rs6720565、rs12053097、rs12613333、rs7566157、rs17045229、rs875077、rs17045238、rs2723129、rs2577698、rs2954818、rs12989910、rs11125011、rs6742888、rs7564616、rs2723111、rs6544822、rs893430、rs737564、rs737565、rs747344、rs6727901、rs7570872、rs17045350、rs6544861、rs6756357、rs4665214、rs10172684、rs1653748、rs1465677、rs1864807、rs1864808、rs4665218、rs10169643、rs1368080、rs10490750、rs11677730、rs7601971、rs1653751、rs1653753、rs1368081、rs11678782、rs11678785、rs4497835、rs1653780、rs17445645、rs4665223、rs4284788、rs4665612、rs1709339、rs6544949rs17045574、rs6544966、rs4665230、rs583168、rs17045705、rs2280122、rs1548020、rs518113、rs497973、rs3806510、rs13386930、rs6721623、rs3795933、rs7560892、rs4233701、rs9261、rs7579413、rs12470949、rs12478701、rs2081302、rs12478744、rs2339853和rs35379186组成的组,
人第3号染色体的包含THRB的区域中的多态性位点选自由单核苷酸多态性国际编号rs1397878、rs6765461、rs6801153、rs1464010、rs7630879、rs6550848、rs826375、rs1667765、rs826378、rs6808673、rs2596623、rs17194828、rs1562736、rs9310730、rs2683535、rs7652337、rs7652444、rs2683542、rs1667739、rs1505302、rs6799431、rs17014338、rs826249、rs10510540、rs6772213、rs851719、rs6792783、rs1354605、rs866651、rs958892、rs826225、rs6550853、rs826223、rs826218、rs1466122、rs1449874、rs11719336、rs7625917、rs17787283、rs4858594、rs1449872、rs9849581、rs9863517、rs9843698、rs9867989、rs1667746、rs17787319、rs1505307、rs7640580、rs12639035、rs9810037、rs9833191、rs12630454、rs3951794、rs6781111、rs1505287、rs12495379、rs4858608、rs7624363、rs4640503、rs6550865、rs9839986、rs5014281、rs9831450、rs4241527、rs4858617、rs4858618、rs2196427、rs10490840、rs6788339、rs6765048和rs892941组成的组,
人第3号染色体的包含MED12L和/或CLRN10S和/或GPR171的区域中的多态性位点选自由单核苷酸多态性国际编号rs13088412、rs9837084、rs744876、rs571170、rs358954、rs9833515、rs6440716、rs358967、rs1993404、rs9883677、rs2048229、rs16863149、rs891666、rs1835668、rs6787683、rs16863204、rs16863208、rs16863229、rs3732755、rs3773614、rs1231521、rs3108727、rs3773619、rs7649855、rs16863264、rs2870518、rs3846072、rs6782715、rs1882014、rs16863287、rs10513391、rs3773621、rs10935835、rs9863821、rs9864095、rs1873619、rs7623356、rs1491981、rs6440735、rs3971192、rs7644001、rs16863323、rs6801273、rs9820422、rs16863336、rs1388622、rs3975404、rs10513394、rs6787801、rs9289836、rs3821663、rs7429509、rs3821664、rs1491974、rs9653953、rs17204501、rs17204508、rs4680406、rs12490051、rs16863364、rs11708767、rs11709550、rs3732769、rs10935844、rs2276765、rs2276766、rs16863376、rs6440741、rs6771904、rs6772196、rs3732771、rs9864533、rs4435614、rs17204557、rs6798252、rs4680440、rs4680443、rs13088575、rs6790903、rs9289840、rs4680474、rs4541381、rs4596123和rs7612205、以及NCBI(v36.1)152200518、152229595、152456055和152609183组成的组,
人第4号染色体的包含SORBS2的区域中的多态性位点选自由单核苷酸多态性国际编号rs10866277、rs12645545、rs12649063、rs7437897、rs11132327、rs10866278、rs6823490、rs6843640、rs6818789、rs2101307、rs6552895、rs6552896、rs6552897、rs12498673、rs10025265、rs2306707、rs3749579、rs6848934、rs2306703、rs11934819、rs4862558、rs4599460、rs4862559、rs6823546、rs11132334、rs5018568、rs904451、rs7677363、rs2030144、rs11132338、rs11132340、rs7669883、rs6858544、rs1027521、rs2173480、rs2173479、rs11132344、rs10084919、rs7677532、rs6835720、rs10024805、rs6834923、rs6812818、rs10015164、rs11132345、rs10024359、rs10000785、rs1039235、rs2310357、rs10028428、rs4862571、rs7684943、rs10021308、rs1566347、rs12504307、rs11132355、rs10028944、rs1499010、rs11724690、rs11940307、rs1566354、rs2648126、rs2648120、rs2648117、rs2648112、rs4861686、rs1026362、rs12643549、rs2310372、rs4862588、rs10031442、rs4637445、rs1947455、rs2278938、rs12641600、rs4862600、rs10002339、rs7694098、rs830829、rs830838、rs830841、rs2603731rs7697039、rs7697051、rs1356672、rs7679967、rs4861696、rs1519320和rs12643213组成的组,
人第5号染色体的包含MAST4的区域中的多态性位点选自由单核苷酸多态性国际编号rs7733618、rs12514219、rs4532318、rs6861487、rs7700850、rs4587034、rs7705086、rs16895307、rs16895308、rs6890124、rs4339298、rs4613646、rs6862416、rs4532319、rs10515011、rs16895357、rs7732647、rs4355471、rs4554157、rs12055346、rs16895417、rs17210621、rs7706654、rs6864239、rs6896102、rs4374700、rs16895456、rs6880657、rs6863239、rs16895458、rs11953193、rs10940078、rs4446417、rs9791090、rs33721、rs33728、rs2548712、rs33696、rs257711、rs33724、rs26384、rs7704890、rs7725568、rs30729、rs26383、rs27637、rs26382、rs9918275、rs258082、rs257699、rs257700、rs16895719、rs30731、rs16895744、rs1835136、rs36157、rs36155、rs544158、rs36144、rs36143、rs26923、rs16895768、rs463219、rs16895790、rs26921、rs192295、rs26929、rs26928、rs461702、rs460844、rs455938、rs464881、rs456775、rs154620、rs17217092、rs154618、rs10056426、rs152407、rs37568、rs734828、rs2280174、rs16896071、rs40206、rs706701、rs17218390、rs6863305、rs39664、rs34691、rs34693、rs10044452、rs34698、rs34699、rs4016246、rs1159201、rs2662227、rs27206、rs469300、rs467845、rs2545396、rs16896246、rs16896295、rs17221226、rs2287929和rs16896325、以及NCBI(v36.1)65944399组成的组,
人第5号染色体的包含GLRX和/或C5orf27的区域中的多态性位点选自由单核苷酸多态性国际编号rs34896、rs34897、rs3777220、rs3777217、rs11738579、rs3777213、rs7736948、rs6556883、rs9314160、rs6876015、rs11135436、rs17085165、rs17085170、rs10040697、rs6884979、rs7702848、rs2080947、rs10476660、rs154454、rs147295、rs17085249、rs11741590、rs3777194、rs2270554、rs3777190、rs3777188和rs4642392、以及NCBI(v36.1)95206085组成的组,
人第5号染色体的包含EBF1的区域中的多态性位点选自由单核苷酸多态性国际编号rs2913384、rs173423、rs244654、rs824854、rs824848、rs1095103、rs403334、rs10515769、rs2112262、rs33196、rs17056089、rs2042875、rs3843489、rs1541649、rs17056186、rs2116727、rs10067813、rs7709065、rs17056205、rs1368298、rs4704963、rs10070743、rs4704967、rs10056564、rs6875710、rs17643057、rs6883655、rs891903、rs10054046、rs6556373、rs4921537、rs6556377、rs13180086、rs6556379、rs6556381、rs1544754、rs883540、rs17056426、rs17056435、rs1363561、rs9313797、rs1422672、rs17056474、rs17717829、rs10515787、rs10515786、rs10515789、rs9637861、rs7442845、rs12659540、rs3862065和rs270661组成的组,
人第5号染色体的包含DOCK2的区域中的多态性位点选自由单核苷酸多态性国际编号rs4493692、rs3797712、rs3797713、rs264881、rs36101422、rs264834、rs6879467、rs6883997、rs7721990、rs7713640、rs900464、rs264846、rs2161404、rs2306560、rs3816764、rs11134586、rs12515906、rs264844、rs2279318、rs264843、rs10063658、rs4867879、rs17736846、rs264838、rs12658902、rs2306558、rs262865、rs262840、rs262841、rs262842、rs155239、rs262848、rs262851、rs4867572、rs262852、rs746468、rs90213、rs 17051884、rs262860、rs262859、rs10076580、rs6875474、rs185532、rs17669613、rs1013193、rs17669636、rs966595、rs17669654、rs13171272、rs261612、rs13163565、rs17737323、rs155074、rs261016、rs261597、rs166368、rs261633、rs10054135、rs261624、rs261625、rs17560224、rs4867895、rs168678、rs30080、rs30083、rs17670092、rs7717087、rs17737597、rs7729471、rs261039、rs261038、rs1482333、rs2291229、rs261021、rs261076、rs12515095、rs17646198、rs17560405、rs261067、rs261060、rs261006、rs261008、rs11740615、rs11741667、rs155023、rs11742527、rs978914、rs12522080、rs2624252、rs6896240、rs6862278、rs3860755、rs259897、rs259899、rs259900、rs259902、rs259903、rs6895199、rs259916、rs12659898、rs1422695、rs17738158、rs17561105、rs11134600、rs6893165、rs2161366、rs9313476、rs17738326、rs2287727、rs17738444、rs6884677、rs13152920、rs9790867、rs11134603、rs17738530、rs2134151、rs12055169、rs17738584、rs1316638、rs17072023、rs13361200、rs17738710、rs10462994、rs10462995、rs6890267、rs6871764、rs17671355、rs6555884、rs17562083、rs10516070和rs955078组成的组,
人第6号染色体的包含6p21.31-p21.3的区域中的多态性位点选自由单核苷酸多态性国际编号rs1044043、rs10484565、rs241438、rs1800454、rs241429、rs241427、rs4711312、rs2071482、rs4148882、rs12529313、rs9276815、rs20547、rs9276825、rs9276832、rs241404、rs241403、rs3101942、rs241400、rs3132132、rs151719、rs1050391、rs9378127、rs188245、rs3129305、rs176248、rs12216336、rs2894311、rs12191230、rs2395301、rs12192713、rs12199692、rs1044429、rs592625、rs399604、rs365066、rs3763341、rs4713603、rs4713604、rs6936620、rs2116264、rs1367731、rs439852、rs446853、rs9296069、rs440841、rs3128952、rs3130180、rs3097662、rs3128955、rs3130588、rs9277183、rs3097669、rs9277194、rs376877、rs6457710、rs3077、rs9348904、rs9296073、rs2856816、rs3135021、rs1431403、rs9277542、rs3128963、rs3128965、rs3128966、rs3117229、rs2068204、rs2179920、rs2295120、rs3117242、rs3128921、rs3128923、rs9296079、rs3117230、rs3128930、rs872956、rs9380343、rs6937034、rs6937061、rs9277637、rs3117039、rs3130233、rs3117016、rs2395351、rs3116985、rs3129249、rs3129248、rs1003979、rs2071025、rs2855459、rs439205、rs213208、rs461338、rs458679、rs455567、rs14398、rs3130267、rs3130014、rs211455、rs211453、rs10807124、rs411136、rs2772376、rs7747216、rs9469491、rs17627049、rs210137、rs9296095、rs210138、rs444697、rs1794681、rs9469529、rs4711332、rs12205634、rs1408711、rs1536041、rs2229637、rs10947427、rs3818527、rs3818528、rs3818530、rs4713659、rs594223、rs7759668、rs626156、rs498114、rs654682、rs16869412、rs10947432、rs3818532、rs9394163、rs12203688、rs4713670、rs4713671、rs622917、rs12189725、rs877187、rs4713674、rs4713677、rs943466、rs943467、rs755495、rs747692、rs943475、rs6929696、rs3806108、rs3828783、rs3763253、rs9366829、rs9394169、rs4713686和rs10947441组成的组,所述6p21.31-p21.3包含HLA-DPA1,
人第6号染色体的包含LOC100132919的区域中的多态性位点选自由单核苷酸多态性国际编号rs1338657、rs9485685、rs9377361、rs9377365、rs9377366、rs9322660、rs9322661、rs2399802、rs17063309、rs680011、rs9499111、rs9404214、rs1569366、rs1569367、rs17443301、rs17063399、rs6906578和rs7740643、以及NCBI(v36.1)102984444组成的组,
人第7号染色体的包含AAA1和/或NPSR1的区域中的多态性位点选自由单核苷酸多态性国际编号rs1156490、rs6462540、rs1419842、rs2392267、rs1419803、rs1419805、rs1419809、rs6977125、rs17169769、rs17169771、rs7778512、rs1419840、rs35114106、rs1019089、rs16878925、rs1362172、rs2392270、rs17831435、rs10951417、rs1468559、rs10486643、rs6951496、rs7458608、rs2893480、rs4723375、rs1419863、rs1419864、rs9639694、rs9639695、rs10951418、rs10215667、rs6971556、rs12673387、rs4723377、rs6950303、rs1034876、rs17169864、rs17169865、rs16878959、rs12672624、rs10486649、rs2893482、rs12672538、rs10486650、rs2392274、rs2079509、rs10243426、rs2097960、rs1362173、rs1458549、rs450463、rs1023555、rs1023556、rs2530548、rs2530549、rs2530550、rs1419794、rs2530565、rs1458544、rs2609226、rs9792042、rs2530567、rs2609218、rs323925、rs323912、rs10239860、rs1419791、rs17777040、rs17198254、rs17777663、rs17777675、rs17198982、rs17788843、rs324978、rs324981、rs324983、rs1419780、rs325464、rs17199659、rs17789420、rs17789642、rs17170015、rs17200455、rs10263313、rs17790181和rs11768189组成的组,
人第7号染色体的包含ELMO1的区域中的多态性位点选自由单核苷酸多态性国际编号rs10277512、rs4720221、rs7787226、rs10951500、rs10274668、rs10255208、rs2006882、rs2392472、rs756507、rs2241152、rs7785934、rs7782979、rs17170754、rs3807162、rs3734948、rs741302、rs2041801、rs6966276、rs4723592、rs11769038、rs4723598、rs1882080、rs4723601、rs11982286、rs1986619、rs1882082、rs10268319、rs17170799、rs6957979、rs10225164、rs2293628、rs999744、rs17170820、rs17170826、rs17170830、rs1364373、rs13233995、rs6971267、rs7809487、rs1035582、rs2541103、rs2541074、rs2541075、rs2551069、rs1420421、rs6958656、rs10257460、rs12666532、rs1420422、rs17170915、rs10224438、rs7809365、rs6963276、rs6967358、rs6967403、rs10279544、rs4723619、rs17170955、rs2723969、rs6944921、rs6462746、rs1016321、rs2541082、rs4723631、rs2541089、rs2717975、rs10238916、rs2723952、rs12534004、rs2893540、rs2724006、rs2717983、rs2717990、rs2701004、rs2724007、rs2717992、rs2723996、rs9655380、rs2701003、rs2717993、rs2724003、rs2723980、rs2723990、rs2717948、rs2700992、rs6462758、rs2724014、rs2724016、rs1882079、rs2717954、rs13247953、rs2392495、rs10233634、rs12532031、rs4720246、rs7782999、rs1425124、rs1647801、rs2052688、rs2052687、rs10282309、rs10239693、rs17261508、rs10267165、rs918979、rs7777258、rs11767227、rs1647791、rs1732001、rs17171045、rs9655382和rs6952260、以及NCBI(v36.1)37495022组成的组,
人第8号染色体的包含TNKS的区域中的多态性位点选自由单核苷酸多态性国际编号rs12680471、rs2085640、rs17149989、rs17730481、rs17663071、rs17663167、rs4841147、rs1458938、rs1458939、rs11786942、rs17674819、rs1466338、rs13253327、rs17150066、rs11777274、rs11249921、rs17150087、rs1380104、rs11997346、rs4841156、rs6991328、rs17150131、rs7817148、rs10100760、rs17150181、rs17150185、rs17733293、rs7835349、rs7013746、rs7016636、rs3989158、rs17150211、rs4841169、rs4841171、rs6985564、rs11991621、rs4840426、rs6992432、rs10503380、rs7013834、rs6980831、rs12681719、rs4840427、rs4841179、rs7832096、rs4474027、rs4457339、rs12674762、rs4535743、rs1393、rs4342598、rs11780274、rs13273033、rs4841197、rs7010270、rs4841200、rs7459728、rs7461939、rs9644708、rs12545912、rs4840437、rs7004915、rs11785739、rs17150478、rs11787443、rs2898223、rs7820917、rs7829463、rs7000483、rs1567837、rs17734290、rs12540961、rs7829733、rs2137790、rs13249584、rs7013686、rs7015101、rs13270146、rs6601389、rs6601390、rs10098618、rs12056944、rs12543996、rs7828229、rs17150703、和rs531564组成的组,
人第8号染色体的包含ANGPT1的区域中的多态性位点选自由单核苷酸多态性国际编号rs12549261、rs10955436、rs6981257、rs11774921、rs11781710、rs1954724、rs6997025、rs1892764、rs16875775、rs11778352、rs2584372、rs2246255、rs2022958、rs2022949、rs16875901、rs1010824、rs2507799、rs10505100、rs11777978、rs16875983、rs9297393、rs7009229、rs13257393、rs4077322、rs11997995、rs10505105、rs4133396、rs4133395、rs4341141、rs10505107、rs11780324、rs35143736、rs17368715、rs17296616、rs17368821、rs10955450、rs1433178、rs2514850、rs1283653、rs2445351、rs1283659、rs16876122、rs1632130、rs1672143、rs16876200、rs2514867、rs1283706、rs1283703、rs11785702、rs1283663、rs1283694、rs1433192、rs1433191、rs1298936、rs1368497、rs1529747、rs2916085、rs1368494、rs3847160、rs1654680、rs17301273、rs10086467、rs16876325、rs1283720、rs1433171、rs1433172、rs10216767、rs1583300、rs281708、rs10955457、rs10103715、rs281673、rs439896、rs281685、rs281696、rs2014769、rs281740和rs190735、以及NCBI(v36.1)108394240组成的组,
人第9号染色体的包含PGM5的区域中的多态性位点选自由单核苷酸多态性国际编号rs3869296、rs7020465、rs11142449、rs11142461、rs10868851、rs13439981、rs7039076、rs265083、rs2131355、rs265087、rs265073、rs7861495、rs10869020、rs17085775、rs11795256、rs10869034、rs1411992、rs10869043、rs12343877、rs11142941、rs869950、rs7046236和rs9644996组成的组,
人第9号染色体的包含TMC1的区域中的多态性位点选自由单核苷酸多态性国际编号rs3012514、rs7846808、rs7027640、rs10781101、rs4526421、rs7853275、rs10869178、rs7864535、rs12004208、rs6560277、rs4573342、rs4132905、rs4073227、rs10121866、rs7044241、rs7855743、rs4373587、rs11143314、rs7047875、rs6560284、rs6560285、rs7857300、rs6560287、rs7866185、rs6560293、rs7026124、rs12346185、rs7041300、rs4307407、rs17095、rs10113863、rs7029452、rs6560297、rs7045535、rs13285932、rs10521449、rs13285999、rs10869190、rs9314799、rs1037031、rs2487471、rs2589623、rs2793153、rs2589615、rs969205、rs1796991、rs1838487、rs2589609、rs1663756、rs12351661、rs1663763、rs13298704和rs2501914组成的组,
人第9号染色体的包含ROR2的区域中的多态性位点选自由单核苷酸多态性国际编号rs6479357、rs9409602、rs10991978、rs10991988、rs7867934、rs1388966、rs902923、rs902922、rs10512215、rs1532230、rs12337820、rs7029450、rs2131304、rs10992027、rs9299395、rs1388967、rs4073736、rs4073735、rs9409652、rs10992075、rs7031729、rs17585790、rs16907725、rs16907728、rs4372069、rs16907761、rs16907764、rs17586213、rs7039620、rs16907768、rs10992090、rs3802379、rs3935382、rs4601388、rs4744101、rs4743852、rs10119449、rs7858240、rs7022147、rs1569141、rs10992124、rs7856144、rs7855417、rs6479374、rs1881385、rs16907863、rs12002851、rs1881392、rs10992137、rs7045226、rs11789730、rs16907923、rs12684524、rs7858435、rs10116326、rs16907979、rs10992161、rs6479386、rs3858082、rs7038823、rs7871522、rs10125466、rs10992178、rs10820926、rs6479389、rs10820927、rs7867072、rs1954599和rs10992207组成的组,
人第9号染色体的包含PPP6C和/或C9orf126的区域中的多态性位点选自由单核苷酸多态性国际编号rs7022663、rs7024526、rs2289631、rs10986505、rs16927802、rs12001999、rs10819019、rs6478690、rs1017530、rs3824507、rs12352758、rs4838242、rs650599、rs7860360、rs2113352、rs7019234、rs7867749、rs2271746、rs16927930、rs10986618、rs10986626、rs12237026、rs463774、rs420423、rs10986641、rs10513445、rs393721、rs10819043、rs10986689、rs10986698、rs10986703、rs10986714、rs10986715、rs10986721、rs10986722、rs1463837、rs4837016、rs10126025、rs10986738、rs2819624和rs3122938组成的组,
人第10号染色体的包含GRID1的区域中的多态性位点选自由单核苷酸多态性国际编号rs2202925、rs17306253、rs10887498、rs12243608、rs1876887、rs2457451、rs2664403、rs2664394、rs1912274、rs1912322、rs744413、rs2664406、rs2664405、rs2616673、rs2175200、rs2175201、rs17105725、rs1912277、rs2457450、rs17105747、rs746992、rs7076174、rs4027581、rs11201743、rs4418740、rs17105793、rs12221324、rs17105805、rs7924009、rs11201759、rs11201775、rs3011700、rs2949380、rs17105842、rs3011704、rs2140661、rs1917136、rs17105866、rs1880389、rs884316、rs2949384、rs2949385、rs2140666、rs2949386、rs1106789、rs11201804、rs17105912、rs17105916、rs2352181、rs947596、rs2352099、rs7924131、rs7923188、rs7923344、rs1418396、rs7899222、rs10788472、rs10887538、rs2153828、rs7910835、rs7914815、rs7918491、rs2001417、rs2001416、rs10887540、rs7095652、rs12773130、rs12779841、rs10887544、rs11201871、rs10887549、rs10788476、rs2003111、rs7912451、rs11201882、rs2352178、rs7923926、rs7082134、rs4284352、rs6585995、rs6585996、rs5003944、rs7923310、rs884700、rs4934156、rs11201909、rs868042、rs12257526、rs12262754、rs11817682、rs12243396、rs1870156、rs2607830、rs17320915、rs2814322、rs2607840、rs11201944、rs17106434、rs2607822、rs10887563、rs10887564、rs2492738、rs1870161、rs2607839、rs1870165、rs2814340、rs1902678、rs2814349、rs1947567、rs2168725、rs1902680、rs2607833、rs1902676、rs1896527、rs6586003、rs12262612、rs6586004、rs17106584、rs7905184、rs10887578、rs10509530、rs1078789、rs10749537、rs12355013、rs7904985、rs10788500、rs10788501、rs10458771、rs2018507、rs10887608、rs4934207、rs4934208和rs7083506组成的组,
人第11号染色体的包含11p11.2的区域中的多态性位点选自由单核苷酸多态性国际编号rs7124648、rs7128650、rs4587689、rs11039097、rs12796744、rs17197619、rs17790390、rs11039105、rs10501319、rs11039112、rs747650、rs7937410、rs17197710、rs1685404、rs2013867、rs901746、rs7118396、rs10838681、rs10501321、rs1051006、rs3816724、rs7124955、rs4752824、rs1052373、rs11570094、rs10769255、rs11039212、rs4992357、rs11605672、rs1534576、rs10742805、rs12419692、rs4752856、rs3817334、rs7120548、rs10838739、rs11039329、rs10742817、rs4752791、rs17788930、rs7114011、rs10838774、rs2305982、rs6485788、rs10838782、rs7924699、rs1872167、rs747782和rs1681630组成的组,所述11p11.2包含SPI1和/或SLC39A13和/或PSMC3和/或RAPSN和/或NUP160,
人第11号染色体的包含OR5R1的区域中的多态性位点选自由单核苷酸多态性国际编号rs1586004、rs7940239、rs10896302、rs17615246、rs10750820、rs1945245、rs3938998、rs10791979、rs1573511、rs12277883、rs7116573、rs10896333、rs4420287、rs1894026、rs1945213、rs1945211、rs7113069、rs11228306、rs12785840、rs10501353、rs1945203、rs585475、rs615231、rs617315、rs675991、rs7939886、rs4939052、rs621957、rs611534、rs594854、rs618594、rs634955和rs613050组成的组,
人第11号染色体的包含MS4A7和/或MS4A14的区域中的多态性位点选自由单核苷酸多态性国际编号rs1026250、rs10750931、rs7126121、rs11230241、rs10897026、rs12225299、rs10792264、rs7125753、rs11605188、rs1899571、rs11230258、rs11230261、rs7943967、rs4442568、rs10897047、rs2868121、rs7945665、rs10897049、rs4506675、rs10792267、rs2304935、rs2165832、rs10736703、rs4939347、rs2233244、rs950803、rs950802、rs3816270、rs2241920、rs10501383、s10897056、rs4939352、rs955019、rs4938943、rs11230304、rs3763850、rs2282524、rs10897061、rs2120182、rs12787520、rs4146870、rs4939364、rs1051756、rs1941032、rs17615252、rs17543397、rs8181503、rs7946021、rs4939391、rs2186919、rs2847222、rs2633277和rs2847212、以及NCBI(v36.1)59954904组成的组,
人第11号染色体的包含MAP6和/或GDPD5和/或SERPINH1的区域中的多态性位点选自由单核苷酸多态性国际编号rs565976、rs534179、rs2276443、rs532454、rs511190、rs566818、rs482458、rs1793412、rs1790149、rs1790155、rs1790154、rs668727、rs11600640、rs611449、rs11236449、rs661928、rs621305、rs11236452、rs7128888、rs7129014、rs688727、rs674503、rs606452、rs11236458、rs599816、rs660343、rs541993、rs601142、rs648930、rs611221、rs12574551、rs584046、rs640927、rs11236476、rs17134231、rs12282340、rs10160335、rs12281880、rs656007、rs479592、rs589443、rs4944086、rs10751245、rs7110142、rs7947980和rs509530、以及NCBI(v36.1)75005360组成的组,
人第11号染色体的包含11q23-24的区域中的多态性位点选自由单核苷酸多态性国际编号rs17120344、rs6589597、rs10790175、rs12420127、rs10892082、rs7107152、rs1242229、rs1784042、rs2269399、rs526602、rs664971、rs11216315、rs1263499、rs17120523、rs236919、rs528508、rs593245和rs477036、以及NCBI(v36.1)116617736组成的组,所述11q23-24包含PCSK7和/或RNF214,
人第12号染色体的包含TAOK3的区域中的多态性位点选自由单核苷酸多态性国际编号rs7297299、rs5745807、rs5745811、rs9739560、rs4767654、rs10638、rs9788041、rs11068799、rs11068803、rs10850953、rs7135008、rs11613924、rs7307331、rs9669474、rs7957463、rs10850956、rs2936840、rs904661、rs1726407、rs1726392、rs17440336、rs1277442、rs11068860、rs11068865、rs17512142、rs17440364、rs364823、rs418941、rs7974718、rs11068891、rs16948230、rs404566、rs16948234、rs17512483、rs17512574、rs2271007、rs11068937、rs7966814、rs6490178、rs905579、rs983421、rs1503767、rs7132650和rs7316050组成的组,
人第12号染色体的包含STX2的区域中的多态性位点选自由单核苷酸多态性国际编号rs7964173、rs11061064、rs10848174、rs7965385、rs7979388、rs7953972、rs4759749、rs4759751、rs7308461、rs1881062、rs10083153、rs729463、rs1881067、rs2695872、rs10848193、rs10848194、rs7305915、rs2398529、rs3864899、rs4412792、rs2632601、rs1554807、rs10848205、rs2037789、rs4619189、rs2001483、rs1609985、rs10848218、rs11061198、rs7307055、rs11061209、rs10773833、rs11061222、rs7299940、rs2141182、rs1405904、rs1316893、rs4074922和rs4388928组成的组,
人第13号染色体的包含CARS2的区域中的多态性位点选自由单核苷酸多态性国际编号rs9521809、rs4773201、rs1106649、rs9521814、rs385037、rs7997619、rs912941、s1886871、rs2182271、rs912942、rs331596、rs9559844、rs331602、rs1536621、rs9521853、rs9559849、rs7999854、rs3858821、rs4771696、rs4773228、rs4773229、rs2765341、rs3742193、rs3742194、rs7323602、rs3759463、rs179356、rs330565、rs7394、rs389656、rs450514、rs445490、rs418321、rs2251314、rs2165418、rs7999702、rs9521926、rs3098728、rs9515279和rs2582886、以及NCBI(v36.1)110097814组成的组,
人第15号染色体的包含CYP19A1的区域中的多态性位点选自由单核苷酸多态性国际编号rs6493469、rs12595526、rs8031702、rs17599974、rs16953045、rs10744956、rs2306335、rs6493470、rs7181201、rs11856609、rs1124769、rs17647040、rs12899586、rs12904155、rs7170455、rs7177664、rs8040954、rs17647084、rs4775916、rs1111266、rs16964077、rs1025738、rs7179084、rs7176579、rs16964113、rs10519293、rs17522553、rs12324478、rs1075681、rs2899469、rs8031580、rs8029120、rs4774583、rs2289105、rs8034835、rs6493489、rs16964201、rs12595627、rs8023263、rs2899473、rs700518、rs3759811、rs17703883、rs1865803、rs4775936、rs10459592、rs17523270、rs10519297、rs11636686、rs11636667、rs1062033、rs2008691、rs11636403、rs10519299、rs17647707、rs17647719、rs7167343、rs936308、rs12594203、rs999480、rs2290622、rs8031463、rs6493495、rs2445765、rs2445766、rs2445768、rs1551656、rs12441382、rs2446420、rs2124873、rs2470184、rs2470187、rs2445781、rs12595284、rs17647970、rs7174434、rs764530、rs12438104、rs16964308、rs4775942、rs16964316、rs2470172、rs2470173、rs16964319、rs10163098、rs12443092、rs2168623、rs3751586、rs2445741、rs8036694、rs2459396和rs16964348、以及NCBI(v36.1)49383121组成的组,
人第17号染色体的包含CA10的区域中的多态性位点选自由单核苷酸多态性国际编号rs4794268、rs4794274、rs4399573、rs12051837、rs6504736、rs7208167、rs9303589、rs1468118、rs10491154、rs17695254、rs2073864、rs9912472、rs3764798、rs17695921、rs11867674、rs886078、rs8076197、rs8076496、rs2073866、rs9901183、rs4794293、rs8064617、rs4794294、rs985758、rs4794295、rs16950363、rs2873938、rs1263962、rs1263965、rs1263988、rs1263989、rs4794298、rs4794300、rs8080331、rs11869209、rs1269480、rs1263978、rs1003290、rs1263981、rs1405191、rs1263984、rs9904076、rs4794304、rs8074185、rs6504747、rs16950512、rs7223782、rs4794305、rs16950534、rs1526182、rs1501255、rs4496207、rs1125750、rs1405187、rs767326、rs981577、rs4794307、rs202133、rs16950626、rs9896969、rs202136、rs202121、rs202120、rs203076、rs203090、rs203092、rs203093、rs203097、rs203098、rs10514990、rs203010、rs10514991、rs203022、rs6504754、rs12603762、rs169386、rs203042、rs7215008、rs996379、rs4794315、rs1501253、rs203050、rs203002、rs1005092、rs9896168、rs8065627、rs16950939、rs2907784、rs11079991、rs1393735、rs2970016、rs1875675、rs2938139、rs1354275、rs7224915、rs9893317、rs1503059、rs2970052、rs11655715、rs1155218、rs2931368、rs2931365、rs2931364、rs9908649、rs1486745、rs4605214、rs1503041、rs10514997、rs10514998、rs11079993、rs1503050、rs1503051、rs10515000、rs12949235、rs1393734、rs17678475、rs16951169、rs12150128、rs16951176、rs16951177、rs9903651、rs10515001、rs1847245、rs12150499和rs6504764组成的组,
人第18号染色体的包含LOC643542的区域中的多态性位点选自由单核苷酸多态性国际编号rs8086948、rs12457951、rs11151371、rs17077389、rs1480679、rs5000099、rs1480682、rs433411、rs370944、rs395074、rs379982、rs281571、rs1444106、rs2448716、rs1562072、rs1867412、rs17077583、rs764133、rs17828615、rs2440515、rs10503119、rs2318439、rs12607172、rs9319737、rs1444112、rs2448755、rs2448745、rs2440527、rs28379561、rs10503118、rs1562070、rs2448727、rs17077858、rs12605273、rs2440540、rs4127445、rs7231324、rs12964913、rs9319739、rs17077963、rs12954315、rs4127447、rs7243836、rs8085641、rs2054299、rs515540、rs519360、rs17078114、rs2613163、rs652082、rs638006、rs3911662、rs12966846、rs3845265、rs11661918、rs11151403和rs9953435组成的组,
人第20号染色体的包含PTPRT的区域中的多态性位点选自由单核苷酸多态性国际编号rs1884029、rs6072606、rs2207220、rs4812571、rs4572656、rs2013923、rs4812574、rs6513762、rs6513763、rs6029950、rs2144009、rs2866941、rs6102658、rs2144011、rs3787282、rs746413、rs4812578、rs6102671、rs1126101、rs6065434、rs4810352、rs1076666、rs6029980、rs6016688、rs2076249、rs17221018、rs17221067、rs17312515、rs17221137、rs6130047、rs16986551、rs17221326、rs16986558、rs12625871、rs6016698、rs6030014、rs17221823、rs1883377、rs6016705、rs2179336、rs2143008、rs6030030、rs2206169、rs6102713、rs6093598、rs6030070、rs6030071、rs1014757、rs2143632、rs6030076、rs16986712、rs727337、rs727336、rs6030096、rs11906485、rs2867026、rs16986733、rs11698118、rs6124439、rs11696306、rs1016071、rs6030124、rs1573707、rs6016745、rs12481463、rs4812588、rs6102795、rs11697499、rs4812591、rs916327、rs1883269、rs16986850、rs1033414、rs11700137、rs6072747、rs999114、rs999113、rs6016798、rs2076082、rs6065482、rs6065484、rs6065487、rs6130145、rs230153、rs230154、rs172981、rs230155、rs6072758、rs230157、rs6124468、rs6102880、rs6130153、rs6065504、rs6065509、rs6072789、rs1033643、rs13040647、rs16987042、rs6030322、rs6072792、rs4482557、rs6130168、rs6030341、rs17747544、rs6065515、rs1883843、rs8119203、rs10854226、rs6102929、rs8121443、rs6030363、rs6102950、rs2867488、rs7360934、rs909863、rs6030370、rs6030380、rs6030381、rs9974028、rs6093705、rs6030385、rs6102967、rs2223542、rs6030395、rs6065520、rs6072814、rs2206426、rs6016864、rs6072819、rs6030407、rs6065525、rs2425520、rs2425530、rs4812631、rs4810366、rs2017914、rs3092557、rs17749109、rs4812637、rs6030442、rs6030443、rs1018407、rs6016884、rs1022819、rs733976、rs6030456、rs6093729、rs6030462、rs17749217、rs2146615、rs8119733、rs13042473、rs6103041、rs1973949、rs208256、rs208254、rs3092043、rs2077768、rs208250、rs4812645、rs6130222、rs4812655、rs6130232、rs208230、rs208229、rs6065544、rs6065545、rs6065546、rs7262282、rs7262355、rs11699742、rs8125304、rs6065547、rs4812659、rs16987493、rs208272、rs208273、rs4315585、rs208186、rs208197、rs206636、rs6030572、rs4812664、rs4812665、rs16987668、rs206148、rs206154、rs206159、rs206163、rs2208048、rs2425546、rs2425553、rs2425554、rs2425560、rs2425562、rs1106978、rs6030634、rs6016951、rs1006746、rs2425587、rs927058、rs2425593、rs2425599、rs2425610、rs16987770、rs6016963、rs6065579、rs 1572929、rs6072998、rs6030670、rs947202、rs947203、rs4812681、rs6093784、rs4812683、rs 10485698、rs926288、rs1569445、rs6030689、rs2867656、rs11699547、rs6030709和rs7267873、以及NCBI(v36.1)40130174组成的组,
人第21号染色体的包含ITSN1的区域中的多态性位点选自由单核苷酸多态性国际编号rs12626309、rs2834231、rs4817579、rs2834238、rs2211689、rs2834246、rs2834251、rs2834252、rs1537097、rs1892589、rs2073368、rs2409499、rs9978415、rs2268247、rs9979937、rs2834264、rs2834268、rs879261、rs2245099、rs1108000、rs9979150、rs743316、rs2300384、rs3746861、rs2834292、rs2834295、rs2040113、rs2834296、rs2834297、rs2239565、rs17655810、rs12626410、rs2834303、rs2236645、rs2834310、rs16991110、rs2070513、rs2032312、rs2032313、rs2834315、rs11088265、rs17730050和rs2834332组成的组,
人第2号染色体的包含LRP2的区域中的多态性位点选自由单核苷酸多态性国际编号rs13416802、rs2287616、rs2287613、rs3770597、rs10200158、rs6761690、rs13430236、rs3814381、rs4148765、rs10490134、rs11902639、rs10183805、rs13403114、rs3815574、rs2302698、rs6750251、rs4667590、rs4668121、rs 1990702、rs6746604、rs990627、rs990626、rs2268380、rs6733122、rs2284681、rs11679947、rs10490132、rs2239602、rs2024481、rs741378、rs2284679、rs4287730、rs10210408、rs1548936、rs3770604、rs2075248、rs10490131、rs10169232、rs2239600、rs2284675、rs2268373、rs2268372、rs2193193、rs2268370、rs6747692、rs2300445、rs2239598、rs2239597、rs2239596、rs2239594、rs830957、rs830959、rs12988804、rs831002、rs16856748、rs11887007、rs16856759、rs830964、rs830971、rs830972、rs2247506、rs3845731、rs3770636、rs2673172、rs6713072、rs1990842、rs10199676、rs830955、rs12616998、rs12613663、rs10930354、rs4281872和rs12052892组成的组,
人第11号染色体的包含APIP和/或PDHX的区域中的多态性位点选自由单核苷酸多态性国际编号rs523246、rs10501136、rs836950、rs12808574、rs10836315、rs502857、rs731726、rs731727、rs967751、rs1553760、rs1396880、rs2941043、rs2941042、rs2941061、rs2956079、rs2941054、rs1509662、rs2941052、rs2915234、rs891550、rs919554、rs2915232、rs2956086、rs1998603、rs2985390、rs1571134、rs1571135、rs2915224、rs1430855、rs2985389、rs3751078、rs2915223、rs2915220、rs2986425、rs2986427、rs1326940、rs1326941、rs1326942、rs2986429、rs2915217、rs7111607、rs2915214、rs984690、rs3763934、rs10488801、rs2956106、rs11032927、rs2915202、rs2915201、rs2915199、rs1998912、rs2915193、rs11032937、rs2915227、rs2732557、rs10836326、rs2767038、rs10488806、rs2732564、rs2732565、rs2767033、rs1409716、rs2762955、rs952489、rs514182、rs1425806、rs2732528、rs2553794、rs2553793、rs678137、rs2785156、rs2553787、rs737503、rs737502、rs2162159、rs2732552、rs387619、rs10836332、rs353610、rs353605、rs2785189、rs2553822、rs11032995、rs12291631、rs353590、rs353589、rs353587、rs1559759、rs4756190、rs353581、rs7106681、rs507230、rs634096、rs2732578、rs404977、rs4756191和rs2785180组成的组,
人第12号染色体的包含CUX2的区域中的多态性位点选自由单核苷酸多态性国际编号rs7979656、rs10849918、rs2106407、rs2106406、rs12425190、rs11065783、rs2339706、rs4509829、rs7961663、rs4766526、rs4766442、rs4766443、rs12815195、rs12229654、rs756825、rs16941284、rs6489979、rs4766553、rs9783423、rs7952972、rs16941319、rs3809290、rs7962233、rs4766451、rs886126、rs2078851、rs1265566、rs2301658、rs7300082、rs7300860、rs16941414、rs7398833、rs16941437、rs10849946、rs2078863和rs11065898组成的组,
人第17号染色体的包含TOM1L1的区域中的多态性位点选自由单核苷酸多态性国际编号rs2332297、rs2934884、rs16955216、rs2934890、rs7225247、rs16955225、rs9303359、rs7207731、rs17683089、rs11658131、rs2958944、rs2934909、rs2934914、rs2934921、rs2958933、rs7221313、rs7210248、rs2958921、rs8079105、rs16955327、rs12949718、rs9899602、rs17745123、rs8070668、rs9910653、rs17817829、rs12936860、rs12951898、rs17817950和rs2787501、以及NCBI(v36.1)50344775组成的组。
3.如权利要求1或2所述的检查方法,其中,当用p值来表示正常眼压性青光眼患者与健康人之间的显著性差异时,多态性位点的p值小于0.05。
4.如权利要求3所述的检查方法,其中,
人第6号染色体的包含ELOVL5的区域中的多态性位点选自由单核苷酸多态性国际编号rs2817088、rs2817090、rs2816372、rs2562895、rs2816364、rs2562893、rs2817101、rs2816362、rs2816356、rs2562898、rs735860、rs2057024、rs1429146、rs9463895、rs2235723、rs1346603、rs9474476、rs2294867、rs9349660、rs974323、rs6909592、rs9367520、rs9395854、rs209485、rs9395856、rs7747926、rs7738788、rs209500、rs9357760、rs9370196、rs209512、rs209517、rs93702011和rs9367529组成的组,
人第2号染色体的包含SRBD1的区域中的多态性位点选自由单核苷酸多态性国际编号rs2343466、rs11888802、rs2343468、rs12471726、rs2081297、rs10460504、rs6719211、rs3213787、rs4455206、rs3755076、rs3770264、rs10205197、rs17033745、rs17322370、rs17033801、rs748573、rs6708810、rs6710581、rs17033871、rs3755082、rs11884064和rs556650组成的组,
人第3号染色体的包含ARPP-21的区域中的多态性位点选自由单核苷酸多态性国际编号rs12487524、rs872133、rs2197728、rs2359774、rs6799641、rs4678789、rs11129660、rs11129662、rs6779091、rs3772395、rs17228111、rs735353、rs11920715、rs1455489、rs4678509、rs10510667、rs6799649和rs4234248组成的组,
人第4号染色体的包含EPHA5的区域中的多态性位点选自由单核苷酸多态性国际编号rs371925、rs4241661、rs2167320、rs1159057、rs12501311、rs17086016、rs961489、rs7684130、rs3749526、rs11938753、rs7658065、rs17082122、rs4289492、rs9991256、rs7660334和rs4604104组成的组,
人第6号染色体的包含GMDS的区域中的多态性位点选自由单核苷酸多态性国际编号rs2438083、rs7744559、rs9378292、rs2569866、rs11242704、rs2816286、rs2816287、rs2317965、rs2873591、rs2569835、rs2745567、rs2493160、rs1810496、rs12197419、rs2318108、rs6919059、rs17134506、rs3800142、rs3800146、rs10223785、rs6596866、rs4959621、rs4412249、rs4367413、rs11242729、rs6925298、rs9392353、rs11242730、rs4580917、rs11242733、rs11242735、rs476594、rs9378676、rs676015、rs2026446、rs4959631、rs11242740、rs3778557、rs234930、rs234915、rs234914、rs3800184、rs234932、rs3778568、rs9405550、rs3823287、rs1196396、rs1684153、rs9328087、rs2479003、rs2479004、rs2505678、rs2479008、rs2505674、rs7766115、rs4959648、rs7449538、rs6902556、rs6925653和rs6904395组成的组,
人第6号染色体的包含6p21.3的区域中的多态性位点选自由单核苷酸多态性国际编号rs2077102、rs805301、rs2242655、rs707918、rs805292、rs2299851、rs707939、rs480092、rs2075800、rs2763979和rs11965547组成的组,所述6p21.3包含HSPA1B,
人第6号染色体的包含SYTL3的区域中的多态性位点选自由单核苷酸多态性国际编号rs6455585、rs6931414、rs6925091、rs6913912、rs894124、rs6455601和rs3123094组成的组,
人第7号染色体的包含NXPH1的区域中的多态性位点选自由单核苷酸多态性国际编号rs10246412、rs17404198、rs17149337、rs17404218、rs11976158、rs6978212、rs10261060、rs4401754、rs10278603、rs7787432、rs10237485和NCBI(v36.1)8484291组成的组,
人第7号染色体的包含LHFPL3的区域中的多态性位点选自由单核苷酸多态性国际编号rs7794181、rs11763758、rs756669、rs4730038、rs4584085、rs17141284、rs17141299和NCBI(v36.1)104196627组成的组,
人第11号染色体的包含GLB1L3的区域中的多态性位点选自由单核苷酸多态性国际编号rs11223704、rs1146192、rs1144219、rs2510356和rs1866768组成的组,
人第18号染色体的包含ZNF407的区域中的多态性位点选自由单核苷酸多态性国际编号rs514931、rs10871527和rs17832851组成的组,
人第1号染色体的包含PAX7的区域中的多态性位点选自由单核苷酸多态性国际编号rs2298893、rs685300和rs2056446组成的组,
人第1号染色体的包含PTPRF的区域中的多态性位点选自由单核苷酸多态性国际编号rs6687571、rs2039528、rs10890251、rs10890257、rs12058744、rs11210879、rs10789438、rs11210892、rs617521和rs10789439组成的组,
人第1号染色体的包含1q12-q21.1的区域中的多态性位点选自由单核苷酸多态性国际编号rs2355388、rs6686200、rs12122453、rs12122534、rs517201、rs2031481、rs2477568、rs2477569、rs535827、rs6593732、rs17359526、rs6693631、rs11811023、rs4950371、rs2304893、rs6593739、rs7525703、rs2883434、rs17159914、rs6593745、rs6670503、rs6703187、rs10793652、rs7537483、rs7537703、rs3820130、rs3737845、rs4950315、rs10494244、rs6683839、rs10793656、rs17360443、rs12033407、rs10793661、rs10736837、rs10900336、rs4950409、rs10793682、rs11240055、rs17160256、rs17160264和rs17160305组成的组,所述1q12-q21.1包含CHD1L和/或FMO5,
人第1号染色体的包含1q21.2-q21.3的区域中的多态性位点选自由单核苷酸多态性国际编号rs11265310、rs16836320、rs868108、rs4845390、rs1984285、rs11264339、rs3768566、rs11264345、rs7520184、rs12032720、rs11264359、rs11264363、rs5005770、rs1325908、rs11264375、rs475550、rs821551、rs822490、rs822508、rs1749405、rs954916和rs11590409组成的组,所述1q21.2-q21.3包含FDPS和/或ASH1L和/或KCNN3,
人第1号染色体的包含FAM5B和/或ASTN1的区域中的多态性位点选自由单核苷酸多态性国际编号rs227521、rs227519、rs10047146、rs10489307、rs1402640、rs10913291、rs10798503、rs725416、rs554454、rs10913300、rs760689、rs6683060、rs926319、rs6699955、rs10798508、rs2139876、rs17315298、rs2861972和rs6672376组成的组,
人第1号染色体的包含PKP1的区域中的多态性位点选自由单核苷酸多态性国际编号rs1404401、rs16847944、rs1572968、rs12143423、rs6427900和rs2275860组成的组,
人第2号染色体的包含KLHL29和/或FLJ14126的区域中的多态性位点选自由单核苷酸多态性国际编号rs12613333、rs2723129、rs1465677、rs1864807、rs1864808、rs497973和rs3806510组成的组,
人第3号染色体的包含THRB的区域中的多态性位点选自由单核苷酸多态性国际编号rs1397878、rs6808673、rs17194828、rs9310730、rs7652444、rs4858594、rs17787319、rs1505307、rs7640580、rs9833191、rs3951794和rs5014281组成的组,
人第3号染色体的包含MED12L和/或CLRN10S和/或GPR171的区域中的多态性位点选自由单核苷酸多态性国际编号rs1993404、rs16863149、rs16863204、rs16863208、rs3732755、rs3773614、rs9820422、rs1388622和rs4680474组成的组,
人第4号染色体的包含SORBS2的区域中的多态性位点选自由单核苷酸多态性国际编号rs10015164、rs10024359、rs11940307、rs2648120、rs2648117、rs4861686、rs4637445、rs2278938、rs12641600、rs4862600和rs10002339组成的组,
人第5号染色体的包含MAST4的区域中的多态性位点选自由单核苷酸多态性国际编号rs16895719、rs16895744、rs37568、rs16896071、rs39664、rs469300、rs467845和NCBI(v36.1)65944399组成的组,
人第5号染色体的包含GLRX和/或C5orf27的区域中的多态性位点选自由单核苷酸多态性国际编号rs6876015、rs11135436、rs6884979、rs7702848、rs2080947和NCBI(v36.1)95206085组成的组,
人第5号染色体的包含EBF1的区域中的多态性位点选自由单核苷酸多态性国际编号rs1541649、rs2116727、rs10067813、rs7709065、rs10070743、rs10056564、rs6556373、rs4921537、rs1544754、rs17056426、rs1363561、rs1422672、rs10515787和rs10515786组成的组,
人第5号染色体的包含DOCK2的区域中的多态性位点选自由单核苷酸多态性国际编号rs7729471、rs261039、rs2291229、rs17646198、rs17560405、rs261006、rs155023、rs259900、rs13152920、rs11134603和rs10462995组成的组,
人第6号染色体的包含6p21.31-p21.3的区域中的多态性位点选自由单核苷酸多态性国际编号rs10484565、rs9276825、rs188245、rs6457710、rs455567、rs211453、rs2772376、rs9469491、rs9296095、rs498114、rs654682、rs10947432、rs943466、rs755495、rs747692、rs943475、rs6929696、rs3828783和rs9366829组成的组,所述6p21.31-p21.3包含HLA-DPA1,
人第6号染色体的包含LOC100132919的区域中的多态性位点选自由单核苷酸多态性国际编号rs9377361、rs9322660、rs9322661、rs2399802、rs680011、rs9499111、rs1569366、rs1569367和rs6906578组成的组,
人第7号染色体的包含AAA1和/或NPSR1的区域中的多态性位点选自由单核苷酸多态性国际编号rs12673387、rs6950303、rs1034876、rs17169864、rs17169865、rs16878959、rs10486649、rs12672538、rs450463、rs2530548、rs2530549、rs2530550、rs1458544、rs323925和rs323912组成的组,
人第7号染色体的包含ELMO1的区域中的多态性位点选自由单核苷酸多态性国际编号rs4720221、rs2392472、rs17170754、rs3807162和rs11982286组成的组,
人第8号染色体的包含TNKS的区域中的多态性位点选自由单核苷酸多态性国际编号rs1466338、rs6991328、rs17150131、rs7817148、rs7016636、rs6985564、rs4840426、rs7832096、rs13273033、rs4841200、rs7459728、rs7461939、rs9644708、rs12545912、rs4840437、rs7004915、rs7820917、rs7829463、rs17734290、rs13270146、rs6601389、rs6601390、rs10098618、rs12056944、rs12543996和rs7828229组成的组,
人第8号染色体的包含ANGPT1的区域中的多态性位点选自由单核苷酸多态性国际编号rs16876200、rs2514867、rs11785702、rs1283663、rs1283694、rs1433192、rs1433191和rs10216767组成的组,
人第9号染色体的包含PGM5的区域中的多态性位点选自由单核苷酸多态性国际编号rs7020465、rs10868851、rs7039076、rs2131355、rs265073、rs7861495、rs10869020、rs11795256、rs10869034、rs1411992、rs10869043和rs12343877组成的组,
人第9号染色体的包含TMC1的区域中的多态性位点选自由单核苷酸多态性国际编号rs7027640、rs12004208、rs6560277、rs7044241、rs4373587、rs11143314、rs7047875、rs7866185、rs7026124、rs12346185、rs7041300、rs4307407、rs10113863、rs7029452、rs7045535、rs13285932、rs10521449、rs1037031和rs2487471组成的组,
人第9号染色体的包含ROR2的区域中的多态性位点选自由单核苷酸多态性国际编号rs10119449、rs7022147、rs7856144、rs6479374、rs1881385和rs7045226组成的组,
人第9号染色体的包含PPP6C和/或C9orf126的区域中的多态性位点选自由单核苷酸多态性国际编号rs1017530、rs7860360、rs2113352、rs7019234、rs2271746、rs10986618、rs10986626、rs10513445、rs10986703和rs10986738组成的组,
人第10号染色体的包含GRID1的区域中的多态性位点选自由单核苷酸多态性国际编号rs2202925、rs11201743、rs17105793、rs17105805、rs11201775、rs10887549、rs10788476和rs4284352组成的组,
人第11号染色体的包含11p11.2的区域中的多态性位点选自由单核苷酸多态性国际编号rs11039112、rs747650、rs1685404、rs11570094、rs11039212、rs4992357、rs11605672、rs10742805、rs12419692、rs4752856、rs3817334、rs4752791、rs17788930、rs2305982、rs6485788、rs7924699和rs1872167组成的组,所述11p11.2包含SPI1和/或SLC39A13和/或PSMC3和/或RAPSN和/或NUP160,
人第11号染色体的包含OR5R1的区域中的多态性位点选自由单核苷酸多态性国际编号rs1586004、rs7940239、rs10791979、rs1573511、rs12277883、rs7116573、rs10896333、rs4420287、rs1894026、rs7113069、rs11228306、rs10501353、rs1945203、rs615231、rs7939886、rs4939052、rs621957、rs611534、rs594854、rs618594和rs634955组成的组,
人第11号染色体的包含MS4A7和/或MS4A14的区域中的多态性位点选自由单核苷酸多态性国际编号rs4939347、rs2233244、rs3816270、rs2241920、rs10501383、s10897056和rs4939352组成的组,
人第11号染色体的包含MAP6和/或GDPD5和/或SERPINH1的区域中的多态性位点选自由单核苷酸多态性国际编号rs482458、rs661928、rs7128888、rs7129014、rs688727、rs12574551、rs17134231、rs12282340、rs10160335和rs12281880组成的组,
人第11号染色体的包含11q23-24的区域中的多态性位点选自由单核苷酸多态性国际编号rs664971、rs17120523和rs528508组成的组,所述11q23-24包含PCSK7和/或RNF214,
人第12号染色体的包含TAOK3的区域中的多态性位点选自由单核苷酸多态性国际编号rs10850953、rs1726392、rs17440336、rs17512142、rs17440364、rs16948230、rs16948234、rs17512483和rs17512574组成的组,
人第12号染色体的包含STX2的区域中的多态性位点选自由单核苷酸多态性国际编号rs7305915、rs3864899、rs1554807、rs10848205、rs2037789、rs4619189、rs2001483和rs1405904组成的组,
人第13号染色体的包含CARS2的区域中的多态性位点选自由单核苷酸多态性国际编号rs4773201、rs450514、rs445490、rs418321和rs2251314组成的组,
人第15号染色体的包含CYP19A1的区域中的多态性位点选自由单核苷酸多态性国际编号rs12595526、rs1124769、rs17647040、rs7170455、rs7177664、rs8040954、rs8029120、rs4774583、rs2289105、rs8034835、rs6493489、rs8023263、rs700518、rs3759811、rs4775936、rs10459592、rs17523270、rs10519297、rs11636686、rs11636667、rs11636403、rs10519299、rs2445765、rs12441382、rs2446420、rs2445781、rs7174434、rs12438104、rs4775942和rs16964316组成的组,
人第17号染色体的包含CA10的区域中的多态性位点选自由单核苷酸多态性国际编号rs4794268、rs4794274、rs12051837、rs6504736、rs4496207、rs9896969、rs203076、rs203090、rs203092、rs12603762、rs169386、rs7215008、rs996379、rs4794315、rs1501253、rs203050、rs1005092和rs9896168组成的组,
人第18号染色体的包含LOC643542的区域中的多态性位点选自由单核苷酸多态性国际编号rs433411、rs370944、rs395074、rs281571、rs2448716、rs2440515、rs10503119、rs2318439、rs12607172、rs9319737、rs1444112和rs17077963组成的组,
人第20号染色体的包含PTPRT的区域中的多态性位点选自由单核苷酸多态性国际编号rs4572656、rs16986733、rs6016745、rs6016798、rs6065487、rs6130145、rs230153、rs230155、rs6072758、rs8119203、rs6030395、rs2425530、rs4812637、rs6030456、rs927058、rs2425593、rs16987770、rs6065579、rs6072998、rs6030670、rs947202、rs947203和rs6093784组成的组,
人第21号染色体的包含ITSN1的区域中的多态性位点选自由单核苷酸多态性国际编号rs2834268、rs9979150、rs2300384、rs3746861、rs2834292、rs2834303和rs2236645组成的组,
人第2号染色体的包含LRP2的区域中的多态性位点选自由单核苷酸多态性国际编号rs4668121、rs6746604、rs990627、rs990626、rs2268380、rs6733122、rs2284681、rs2239602、rs741378、rs10210408、rs1548936、rs3770604、rs2075248、rs10169232、rs2239600、rs2284675、rs2268370、rs6747692、rs2239596、rs830957、rs830959、rs12988804、rs831002、rs1990842和rs10199676组成的组,
人第11号染色体的包含APIP和/或PDHX的区域中的多态性位点选自由单核苷酸多态性国际编号rs836950、rs12808574、rs10836315、rs1998603、rs2985390、rs1571134、rs1571135、rs2915224、rs1430855、rs2985389、rs3751078、rs2915223、rs2915220、rs2986427、rs1326940、rs1326941、rs1326942、rs2986429、rs2915217、rs7111607、rs2915214、rs3763934、rs10488801、rs2956106、rs11032927、rs1998912、rs2915193、rs11032937、rs2915227、rs2767038、rs10488806、rs2732564、rs2732565、rs2767033、rs952489和rs353589组成的组,
人第12号染色体的包含CUX2的区域中的多态性位点选自由单核苷酸多态性国际编号rs756825、rs4766553、rs3809290、rs4766451、rs886126、rs1265566、rs2301658和rs7300082组成的组,
人第17号染色体的包含TOM1L1的区域中的多态性位点选自由单核苷酸多态性国际编号rs17817829、rs12951898、rs17817950和NCBI(v36.1)50344775组成的组。
5.一种用于正常眼压性青光眼的检查的试剂,其中,包含选自由下述(a)和(b)的成分组成的组中的至少一种成分:
(a)能够将包含从以下区域组成的组中选择的至少一个区域中的至少一个多态性位点的区域进行扩增的引物,所述区域为:人第6号染色体的包含ELOVL5的区域、人第2号染色体的包含SRBD1的区域、人第3号染色体的包含ARPP-21的区域、人第4号染色体的包含EPHA5的区域、人第6号染色体的包含GMDS的区域、人第6号染色体的包含6p21.3的区域、人第6号染色体的包含SYTL3的区域、人第7号染色体的包含NXPH1的区域、人第7号染色体的包含LHFPL3的区域、人第11号染色体的包含GLB1L3的区域、人第18号染色体的包含ZNF407的区域、人第1号染色体的包含PAX7的区域、人第1号染色体的包含PTPRF的区域、人第1号染色体的包含1q12-q21.1的区域、人第1号染色体的包含1q21.2-q21.3的区域、人第1号染色体的包含FAM5B和/或ASTN1的区域、人第1号染色体的包含PKP1的区域、人第2号染色体的包含KLHL29和/或FLJ14126的区域、人第3号染色体的包含THRB的区域、人第3号染色体的包含MED12L和/或CLRN10S和/或GPR171的区域、人第4号染色体的包含SORBS2的区域、人第5号染色体的包含MAST4的区域、人第5号染色体的包含GLRX和/或C5orf27的区域、人第5号染色体的包含EBF1的区域、人第5号染色体的包含DOCK2的区域、人第6号染色体的包含6p21.31-p21.3的区域、人第6号染色体的包含LOC100132919的区域、人第7号染色体的包含AAA1和/或NPSR1的区域、人第7号染色体的包含ELMO1的区域、人第8号染色体的包含TNKS的区域、人第8号染色体的包含ANGPT1的区域、人第9号染色体的包含PGM5的区域、人第9号染色体的包含TMC1的区域、人第9号染色体的包含ROR2的区域、人第9号染色体的包含PPP6C和/或C9orf126的区域、人第10号染色体的包含GRID1的区域、人第11号染色体的包含11p11.2的区域、人第11号染色体的包含OR5R1的区域、人第11号染色体的包含MS4A7和/或MS4A14的区域、人第11号染色体的包含MAP6和/或GDPD5和/或SERPINH1的区域、人第11号染色体的包含11q23-24的区域、人第12号染色体的包含TAOK3的区域、人第12号染色体的包含STX2的区域、人第13号染色体的包含CARS2的区域、人第15号染色体的包含CYP19A1的区域、人第17号染色体的包含CA10的区域、人第18号染色体的包含LOC643542的区域、人第20号染色体的包含PTPRT的区域、人第21号染色体的包含ITSN1的区域、人第2号染色体的包含LRP2的区域、人第11号染色体的包含APIP和/或PDHX的区域、人第12号染色体的包含CUX2的区域、以及人第17号染色体的包含TOM1L1的区域,所述6p21.3包含HSPA1B,所述1q12-q21.1包含CHD1L和/或FMO5,所述1q21.2-q21.3包含FDPS和/或ASH1L和/或KCNN3,所述6p21.31-p21.3包含HLA-DPA1,所述11p11.2包含SPI1和/或SLC39A13和/或PSMC3和/或RAPSN和/或NUP160,所述11q23-24包含PCSK7和/或RNF214;
(b)能够与包含从以下区域组成的组中选择的至少一个区域中的至少一个多态性位点的区域杂交的探针,所述区域为:人第6号染色体的包含ELOVL5的区域、人第2号染色体的包含SRBD1的区域、人第3号染色体的包含ARPP-21的区域、人第4号染色体的包含EPHA5的区域、人第6号染色体的包含GMDS的区域、人第6号染色体的包含6p21.3的区域、人第6号染色体的包含SYTL3的区域、人第7号染色体的包含NXPH1的区域、人第7号染色体的包含LHFPL3的区域、人第11号染色体的包含GLB1L3的区域、人第18号染色体的包含ZNF407的区域、人第1号染色体的包含PAX7的区域、人第1号染色体的包含PTPRF的区域、人第1号染色体的包含1q12-q21.1的区域、人第1号染色体的包含1q21.2-q21.3的区域、人第1号染色体的包含FAM5B和/或ASTN1的区域、人第1号染色体的包含PKP1的区域、人第2号染色体的包含KLHL29和/或FLJ14126的区域、人第3号染色体的包含THRB的区域、人第3号染色体的包含MED12L和/或CLRN10S和/或GPR171的区域、人第4号染色体的包含SORBS2的区域、人第5号染色体的包含MAST4的区域、人第5号染色体的包含GLRX和/或C5orf27的区域、人第5号染色体的包含EBF1的区域、人第5号染色体的包含DOCK2的区域、人第6号染色体的包含6p21.31-p21.3的区域、人第6号染色体的包含LOC100132919的区域、人第7号染色体的包含AAA1和/或NPSR1的区域、人第7号染色体的包含ELMO1的区域、人第8号染色体的包含TNKS的区域、人第8号染色体的包含ANGPT1的区域、人第9号染色体的包含PGM5的区域、人第9号染色体的包含TMC1的区域、人第9号染色体的包含ROR2的区域、人第9号染色体的包含PPP6C和/或C9orf126的区域、人第10号染色体的包含GRID1的区域、人第11号染色体的包含11p11.2的区域、人第11号染色体的包含OR5R1的区域、人第11号染色体的包含MS4A7和/或MS4A14的区域、人第11号染色体的包含MAP6和/或GDPD5和/或SERPINH1的区域、人第11号染色体的包含11q23-24的区域、人第12号染色体的包含TAOK3的区域、人第12号染色体的包含STX2的区域、人第13号染色体的包含CARS2的区域、人第15号染色体的包含CYP19A1的区域、人第17号染色体的包含CA10的区域、人第18号染色体的包含LOC643542的区域、人第20号染色体的包含PTPRT的区域、人第21号染色体的包含ITSN1的区域、人第2号染色体的包含LRP2的区域、人第11号染色体的包含APIP和/或PDHX的区域、人第12号染色体的包含CUX2的区域、以及人第17号染色体的包含TOM1L1的区域,所述6p21.3包含HSPA1B,所述1q12-q21.1包含CHD1L和/或FMO5,所述1q21.2-q21.3包含FDPS和/或ASH1L和/或KCNN3,所述6p21.31-p21.3包含HLA-DPA1,所述11p11.2包含SPI1和/或SLC39A13和/或PSMC3和/或RAPSN和/或NUP160,所述11q23-24包含PCSK7和/或RNF214。
6.一种正常眼压性青光眼的检查试剂盒,其中,包含权利要求5所述的试剂。
7.一种正常眼压性青光眼诊断用标志基因,其中,含有多核苷酸,所述多核苷酸包含具有多态性位点的最长1000个碱基长度的连续的DNA部分序列或其互补链,所述多态性位点为从由人第6号染色体的包含ELOVL5的区域、人第2号染色体的包含SRBD1的区域、人第3号染色体的包含ARPP-21的区域、人第4号染色体的包含EPHA5的区域、人第6号染色体的包含GMDS的区域、人第6号染色体的包含6p21.3的区域、人第6号染色体的包含SYTL3的区域、人第7号染色体的包含NXPH1的区域、人第7号染色体的包含LHFPL3的区域、人第11号染色体的包含GLB1L3的区域、人第18号染色体的包含ZNF407的区域、人第1号染色体的包含PAX7的区域、人第1号染色体的包含PTPRF的区域、人第1号染色体的包含1q12-q21.1的区域、人第1号染色体的包含1q21.2-q21.3的区域、人第1号染色体的包含FAM5B和/或ASTN1的区域、人第1号染色体的包含PKP1的区域、人第2号染色体的包含KLHL29和/或FLJ14126的区域、人第3号染色体的包含THRB的区域、人第3号染色体的包含MED12L和/或CLRN10S和/或GPR171的区域、人第4号染色体的包含SORBS2的区域、人第5号染色体的包含MAST4的区域、人第5号染色体的包含GLRX和/或C5orf27的区域、人第5号染色体的包含EBF1的区域、人第5号染色体的包含DOCK2的区域、人第6号染色体的包含6p21.31-p21.3的区域、人第6号染色体的包含LOC100132919的区域、人第7号染色体的包含AAA1和/或NPSR1的区域、人第7号染色体的包含ELMO1的区域、人第8号染色体的包含TNKS的区域、人第8号染色体的包含ANGPT1的区域、人第9号染色体的包含PGM5的区域、人第9号染色体的包含TMC1的区域、人第9号染色体的包含ROR2的区域、人第9号染色体的包含PPP6C和/或C9orf126的区域、人第10号染色体的包含GRID1的区域、人第11号染色体的包含11p11.2的区域、人第11号染色体的包含OR5R1的区域、人第11号染色体的包含MS4A7和/或MS4A14的区域、人第11号染色体的包含MAP6和/或GDPD5和/或SERPINH1的区域、人第11号染色体的包含11q23-24的区域、人第12号染色体的包含TAOK3的区域、人第12号染色体的包含STX2的区域、人第13号染色体的包含CARS2的区域、人第15号染色体的包含CYP19A1的区域、人第17号染色体的包含CA10的区域、人第18号染色体的包含LOC643542的区域、人第20号染色体的包含PTPRT的区域、人第21号染色体的包含ITSN1的区域、人第2号染色体的包含LRP2的区域、人第11号染色体的包含APIP和/或PDHX的区域、人第12号染色体的包含CUX2的区域、以及人第17号染色体的包含TOM1L1的区域组成的组中选择的至少一个区域中的至少一个多态性位点,所述6p21.3包含HSPA1B,所述1q12-q21.1包含CHD1L和/或FMO5,所述1q21.2-q21.3包含FDPS和/或ASH1L和/或KCNN3,所述6p21.31-p21.3包含HLA-DPA1,所述11p11.2包含SPI1和/或SLC39A13和/或PSMC3和/或RAPSN和/或NUP160,所述11q23-24包含PCSK7和/或RNF214。
8.一种载体,其中,含有权利要求7所述的标志基因的DNA序列。
9.用权利要求8所述的载体进行了转化的宿主细胞。
10.一种多肽的制造方法,其中,包括:
将用含有权利要求7所述的标志基因的DNA序列的载体转化的宿主细胞进行培养,并从培养物中采集权利要求7所述的标志基因的DNA序列所编码的多肽。
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Application Number | Priority Date | Filing Date | Title |
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JP2008302986 | 2008-11-27 | ||
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CN104164498A (zh) * | 2014-07-28 | 2014-11-26 | 电子科技大学附属医院·四川省人民医院 | 一种青光眼的筛查试剂盒 |
CN112280836A (zh) * | 2020-11-20 | 2021-01-29 | 上海荻硕贝肯医学检验所有限公司 | Hla的一个snp检测试剂盒和检测方法 |
CN113403379A (zh) * | 2021-06-11 | 2021-09-17 | 中国科学院北京基因组研究所(国家生物信息中心) | 一种眼科疾病相关snp位点引物组合物及应用 |
CN113430263A (zh) * | 2021-08-27 | 2021-09-24 | 中国医学科学院北京协和医院 | 基于生物标志物的诊断青光眼的产品及其应用 |
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WO2011004404A1 (en) * | 2009-07-10 | 2011-01-13 | Decode Genetics Ehf | Genetic variants for predicting risk of glaucoma |
JPWO2011148715A1 (ja) * | 2010-05-26 | 2013-07-25 | 株式会社メニコン | 正常眼圧緑内障疾患感受性遺伝子及びその利用 |
CN109554457A (zh) * | 2018-09-21 | 2019-04-02 | 广州益养生物科技有限公司 | 一种快速检测遗传性皮肤抗痘基因的方法 |
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US8182990B2 (en) * | 2004-03-18 | 2012-05-22 | Rusk Intellectual Reserve Ag | Method for diagnosing or predicting susceptibility to optic neuropathy |
JPWO2008130008A1 (ja) * | 2007-04-17 | 2010-07-22 | 木下 茂 | 緑内障発症リスクの判定方法 |
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Cited By (6)
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CN104164498A (zh) * | 2014-07-28 | 2014-11-26 | 电子科技大学附属医院·四川省人民医院 | 一种青光眼的筛查试剂盒 |
CN104164498B (zh) * | 2014-07-28 | 2016-03-09 | 电子科技大学附属医院·四川省人民医院 | 一种青光眼的筛查试剂盒 |
CN112280836A (zh) * | 2020-11-20 | 2021-01-29 | 上海荻硕贝肯医学检验所有限公司 | Hla的一个snp检测试剂盒和检测方法 |
CN113403379A (zh) * | 2021-06-11 | 2021-09-17 | 中国科学院北京基因组研究所(国家生物信息中心) | 一种眼科疾病相关snp位点引物组合物及应用 |
CN113430263A (zh) * | 2021-08-27 | 2021-09-24 | 中国医学科学院北京协和医院 | 基于生物标志物的诊断青光眼的产品及其应用 |
CN113430263B (zh) * | 2021-08-27 | 2021-11-05 | 中国医学科学院北京协和医院 | 基于生物标志物的诊断青光眼的产品及其应用 |
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KR20110094041A (ko) | 2011-08-19 |
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WO2010061697A1 (ja) | 2010-06-03 |
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