CN107447037A - The gene function hereditary variation related to triglyceride levels and related application - Google Patents
The gene function hereditary variation related to triglyceride levels and related application Download PDFInfo
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Abstract
The invention provides the gene function hereditary variation related to triglyceride levels and related application；Specifically, the invention provides the reagent material and/or instrument and equipment of following Argine Monohydrochloride site and/or its corresponding gene loci in sample of the detection from test individual to prepare the application in being used to assess the detecting system of blood lipid level, dyslipidemia and/or incidence of coronary heart disease risk：ACACB gene rs2075260 and/or PPARA gene rs1800234 hereditary variations cause the amino acids of ACACB albumen the 2141st and/or the amino acids of PPARA albumen the 227th to encode and change respectively.The test individual for ACACBVal2141Ile (rs2075260 A, amino acid are changed into Ile) variations occur has higher triglyceride levels and/or higher dyslipidemia and/or incidence of coronary heart disease risk.The test individual for PPARAVal227Ala (rs1800234 C, amino acid are changed into Ala) variations occur has relatively low triglyceride levels and/or relatively low dyslipidemia onset risk.
Description
Technical field
The present invention be on the gene function hereditary variation related to triglyceride levels and related application, it is specific and
Speech, the present invention are Val2141Ile and/or the PPARAVal227Ala change on ACACB in sample of the detection from test individual
The reagent material and/or instrument and equipment of different situation are being prepared for assessing blood lipid level, dyslipidemia and/or incidence of coronary heart disease wind
Application in the detecting system of danger, further relate to a kind of detection for assessing blood lipid level, dyslipidemia and/or incidence of coronary heart disease risk
System.
Background technology
Numerous studies data shows that dyslipidemia is coronary heart disease, myocardial infarction, sudden cardiac death and cerebral arterial thrombosis
Independent hazard factor.It causes concealment, gradual, progressive, systemic and device to body by accelerating systemic atherosclerosis
The infringement of matter.Studies have shown that crowd's blood cholesterol levels often raise 1%, coronary heart disease (CAD) morbidity increase by 2%~3%.I
It is in notable trend, 2007~2008 years China national diabetes and metabolic disorder result of study that state's patients with dyslipidemia sum, which rises,
Prompting, more than the 20 years old crowd's cholesterol levels in China added 23.9% compared with 2002, and dyslipidemia has become China
The important public hygiene problem of resident.2011 annual Beijing's health show that Beijing is normal with population health status report data
Super half citizen dyslipidemia in the people is lived, wherein the dyslipidemia illness rate of 18~30 years old male has reached 58.5%.
Total plasma cholesterol (TC), triglycerides (LDL-C), HDL-C (HDL-C) and triglycerides
(TG) concentration is the target spot and target of the most important hazards of angiocardiopathy and Results.The newest money of the World Health Organization
During material prompting angiocardiopathy prevention and control benefit, contribution caused by the control of dyslipidemia hazards is maximum.The U.S. 1980~
Coronary heart disease death drop by half during 2000, the contribution carried out made by national cholesterol education is attributed to the fact that completely.
Most of dyslipidemias have complicated Etiologic Mechanism, be between multiple genes or multiple genes with environment because for a long time
The result of interaction.Genome-wide association study has been successfully determined multiple genetic locuses related to blood fat, however, almost
All these sites are determined in the crowd of European descent, lack the data in asian population.In addition,
The functional site in major gene region is often rare low frequency site, has important functional meaning and clinical meaning, result of study
Show that there is kind of a group specificity for the rare variation (80%) of most functions.In view of the environment between asian population and European
The difference of exposure and genetic background is huge, therefore it is related to need system examination blood fat in identification asian population particularly Chinese population badly
Function variation and rare variation, it will help to the prevention of compatriots' hyperlipidemia, new drug development, diagnosis and individualized treatment.
The content of the invention
It is a primary object of the present invention to determine the related to blood lipid level of asian population particularly gook's group specificity
Gene function hereditary variation, there is provided assess blood lipid level and/or dyslipidemia by detecting correlated inheritance site and fall ill wind
The method of danger, and the detecting system and related application for assessing blood lipid level and/or dyslipidemia onset risk are provided.
Inventor includes Chinese, Filipino, Chinese American, the Singapore nationality foreign citizen of Chinese origin, Singapore with East Asia crowd
Nationality Malaysian etc. is research object, the incidence relation of individual hereditary variation and blood lipid level more than 110,000 of having analyzed and researched, it is determined that
To the horizontal related gene function hereditary variation of triglycerides (TG).Described gene function hereditary variation includes following
The variation in Argine Monohydrochloride site and/or its corresponding gene loci：The amino acids of ACACB albumen the 2141st and/or PPARA eggs
White 227th amino acids.Wherein, gene loci corresponding to Argine Monohydrochloride site refers to the nucleosides of the gene of encoding said proteins
The nucleotide site of the amino acid sites is corresponded in acid sequence.Preferably, base corresponding to the amino acids of ACACB albumen the 2141st
Because site includes ACACB genes rs2075260；Gene loci includes PPARA bases corresponding to the amino acids of PPARA albumen the 227th
Because of rs1800234.
In the present invention, term " ACACB " includes ACACB genes and/or ACACB albumen；Term " PPARA " includes PPARA
Gene and/or PPARA albumen.
The research of the present invention shows that the amino acids of ACACB albumen the 2141st are Ile (for example, ACACB genes rs2075260
For A situation) test individual there is higher triglyceride levels, higher dyslipidemia and/or incidence of coronary heart disease risk；
The test individual that the amino acids of PPARA albumen the 227th are Ala (for example, situation that PPARA genes rs1800234 is C) have compared with
Low triglyceride levels, relatively low dyslipidemia onset risk.
So as to by detecting in the sample from test individual with the presence or absence of the Argine Monohydrochloride site and/or its is right
The variation situation for the gene loci answered, it can be used for assessing test individual blood lipid level particularly triglycerides (TG) level,
It can be used for assessing test individual dyslipidemia and/or incidence of coronary heart disease risk.
On the one hand, the invention provides detection the sample from test individual in following Argine Monohydrochloride site and/or its
The reagent material and/or instrument and equipment of corresponding gene loci are being prepared for assessing blood lipid level, dyslipidemia and/or coronary disease
Application in the detecting system of sick onset risk：
The amino acids of ACACB albumen the 2141st and/or the amino acids of PPARA albumen the 227th；
Wherein, gene loci corresponding to Argine Monohydrochloride site refers in the nucleotide sequence of the gene of encoding said proteins
The nucleotide site of the corresponding amino acid sites；Preferably, the corresponding gene loci is ACACB genes rs2075260
And/or PPARA genes rs1800234.
According to specific embodiments of the present invention, in of the invention, blood lipid level includes triglycerides (TG).
According to specific embodiments of the present invention, in of the invention, the amino acids of ACACB albumen the 2141st are Ile or ACACB
Gene rs2075260 allele is that A carrier (rs2075260 A, amino acid are changed into Ile) has higher glycerine three
Horizontal, the higher dyslipidemia of ester and/or incidence of coronary heart disease risk.
According to specific embodiments of the present invention, in of the invention, the amino acids of PPARA albumen the 227th are Ala or PPARA
Gene rs1800234 allele is that C carrier (rs1800234 C, amino acid are changed into Ala) has relatively low glycerine three
Horizontal, the relatively low dyslipidemia onset risk of ester.
According to specific embodiments of the present invention, in the present invention, the test individual is East Asia crowd, including Chinese,
Filipino, Chinese American, the Singapore nationality foreign citizen of Chinese origin, Singapore nationality Malaysian etc..During specific detection, the sample may be from
Blood, urine, saliva, gastric juice, hair or biopsy of test individual etc., preferably blood.
Possible technique any in this area can be used to detect Argine Monohydrochloride site of the present invention in protein level,
It can also detect corresponding to Argine Monohydrochloride site of the present invention that (example is as the aforementioned for gene loci in DNA level, rna level
Mononucleotide polymorphism site) to detect gene function hereditary variation situation.Protein level detection method for example：Egg
The gene sequence analysis of white matter and peptide fragment, including the chemical method Edman methods of N-terminal sequencing, C-terminal enzyme solution, C end
Hold chemical degradation method etc.；The protein detection techniques related to mass spectrum, such as substance assistant laser desorpted ionized/flight time mass spectrum
Mensuration (MALDI-TOF MS) and electronic spraying MALDI-MS mensuration (electrosprayion-
izationmassspectrometry,ESI-MS)；Detection method based on antibody, such as prepare recognizable different mutants
Antibody, protein variant is detected using Western blotting (such as western blot) and/or Enzyme-linked Immunosorbent Assay (ELISA).In DNA water
Flat, rna level detection method is for example：The method that direct Sequencing can be used, can directly be disclosed pair by DNA direct Sequencings
According to gene and the sequence difference between mutator is carried, can be specifically traditional use business sequencing kit or automatic survey
DNA is directly sequenced sequence instrument, or develop in recent years pyrosequencing (Pyrosequencing), micro sequence
(SNaPshot) etc..The method based on hybridization can also be used, specifically includes Taqman sonde methods, DNA chip method etc..Can be with
Using the method based on primer extend, such as Matrix Assisted Laser Desorption ion flight time mass spectrum (MALDI-Tof-MS).May be used also
With use the method based on conformation, specifically for example RFLP (RFLP) analysis, single-strand conformation polymorphism
(single-strand conformational polymorphism, SSCP) analysis, denaturing gradient gel electrophoresis
(denaturing gradient gel electrophoresis, DGGE) analysis, Denaturing high performance liquid chromatography
Analytical technologies such as (denaturing high performance liquid chromatography, dHPLC).It can also adopt
With high-resolution solubility curve analytical technology (HRM).In the specific implementation, those skilled in the art can be according to actual conditions
Select above-mentioned any technology vitro detection Argine Monohydrochloride site of the present invention and/or gene loci (including the list
Nucleotide polymorphic site), can also be using the combination of multiple technologies come vitro detection.
It is described to detect the Argine Monohydrochloride site and/or gene in of the invention according to specific embodiments of the present invention
The reagent material and/or instrument and equipment in site can be any feasible detection Argine Monohydrochloride site and/or gene position
Used reagent material and/or instrument and equipment etc. in the technology of point.It is included in protein level detection ACACB albumen the 2141st
The reagent material of the amino acids of amino acids PPARA albumen the 227th；And/or in DNA level, rna level detection ACACB genes
Rs2075260 and/or PPARA genes rs1800234.In the reagent material that protein level detects for example：For protein and
The reagent material of the gene sequence analysis of peptide fragment；Or the reagent material for the protein detection techniques related to mass spectrum；Or use
In reagent material of the detection method based on antibody etc..In the reagent material that DNA level, rna level detect for example：For direct
The reagent of PCR sequencing PCR；Or the reagent being combined for PCR with restriction fragment length polymorphism analysis；Or use
In the reagent that PCR is combined with direct sequencing；Or mutually tied with direct sequencing for PCR
The reagent of conjunction；Or the reagent for following any SNP classifying methods：Method based on hybridization, the method based on primer extend,
Method or high-resolution solubility curve analytical technology based on conformation etc..
On the other hand, present invention also offers a kind of assessment blood lipid level, dyslipidemia and/or incidence of coronary heart disease risk
Detecting system, it includes：Detect following Argine Monohydrochloride site and/or its corresponding gene position in the sample from test individual
The reagent material and/or instrument and equipment of point：The amino acids of ACACB albumen the 2141st and/or the amino acids of PPARA albumen the 227th；
Wherein, gene loci corresponding to Argine Monohydrochloride site refers in the nucleotide sequence of the gene of encoding said proteins
The nucleotide site of the corresponding amino acid sites；Preferably, the corresponding gene loci is ACACB genes rs2075260
And/or PPARA genes rs1800234.
According to specific embodiments of the present invention, of the invention blood lipid level and/or the dyslipidemia onset risk assessed
Detecting system, it includes detection unit and assessment unit, wherein：
The detection unit includes Argine Monohydrochloride site described in sample of the detection from test individual and/or it is corresponding
Gene loci reagent material and/or instrument and equipment, for obtaining test individual albumen and/or gene function hereditary variation
The testing result of situation；
The assessment unit includes being used for the processing unit for according to the testing result of detection unit assess processing；Its
In, the amino acids of ACACB albumen the 2141st be Ile or ACACB gene rs2075260 allele be A carrier have compared with
High triglyceride levels, higher dyslipidemia and/or incidence of coronary heart disease risk；The amino acids of PPARA albumen the 227th are
Ala or PPARA gene rs1800234 allele is that C carrier has relatively low triglyceride levels, relatively low blood fat different
Regular incidence risk.
The detecting system for assessing blood lipid level, dyslipidemia and/or incidence of coronary heart disease risk of the present invention, can be virtual
Device, as long as the function of the detection unit and assessment unit can be realized.Described detection unit can be included respectively
Kind detection reagent material and/or detecting instrument equipment etc.；Described data analysis unit can be any can realize to detection
The testing result of unit is analyzed and processed and draws blood lipid level, dyslipidemia and/or incidence of coronary heart disease risk assessment situation
Computing instrument, module or virtual unit, such as can be in advance by various possible testing results and corresponding blood fat water
Flat (including TG is horizontal), dyslipidemia and/or incidence of coronary heart disease risk formulate corresponding data drawing list, by the detection of detection unit
As a result blood lipid level, dyslipidemia and/or incidence of coronary heart disease risk evaluation result can be drawn by compareing the data drawing list.
Using the technology of the present invention, East Asia crowd's blood fat can be assessed by detecting the gene function hereditary variation
Horizontal and/or dyslipidemia onset risk, makes the individuation health action scheme for research object, and will be helpful to pair
The prevention of compatriots' hyperlipidemia, new drug development, diagnosis and individualized treatment.
Embodiment
In order to be more clearly understood that the present invention, the present invention is further described referring now to the following example.Embodiment is only used for
Explain without limiting the invention in any way.The experimental method of unreceipted actual conditions is known to art in embodiment
Conventional method and normal condition, or according to the condition proposed by manufacturer.
Embodiment one
Research detects and analyzed respectively the hereditary variation dependency relation related to triglycerides TG.First, to East Asia crowd
The carry out Exon chip detection of 47532 research objects of 23 research.Study sample from Chinese ophthalmology research (CHES),
China's Healthy is studied with nutrition survey (CHNS), Port of Fangcheng men's health inspection investigation (FAMHES), Guizhou Bijie diabetes B
(GBTDS), Hong Kong University's special item plan (HKU-TRS), Hubei coronary heart disease research (HuCAD) and Chinese aged's nutrition
With 23 researchs such as investigation of health conditions (NHAPC).Exon chip detection used in 23 independent blood lipid level researchs is flat
Situations such as platform, genotype-phenotype analysis software, is shown in Table 1.Merge all samples and be associated analysis, it is final to exclude singlet site
Association analysis is included in 110986 hereditary variations, and the significance,statistical of research is set to P<4.5×10-7.1 23 research samples of table
This Exon chip detection technique platform and analysis software
In order to further assess the notable site of blood fat whether and meanwhile influence coronary heart disease CAD risks, we apply East Asia
Crowd's CAD data has carried out case-control study, and the data include Peking University's health science center and University of Michigan's medical science
Research (PUUMA-MI), Hong Kong University's special item plan (HKU-TRS), the Hubei coronary heart disease research of institute's myocardial infarction
(HuCAD), Beijing atherosclerosis study (BAS) and Chinese atherosclerosis study (CAS), wherein there is 9661 CAD
Patient and 18558 controls, 28899 altogether.
Statistical analysis technique
When meta is analyzed, spy is respectively studied by age, age quadratic sum to TG indexs measured in each queue
It is the standardized normal distribution that 0 standard deviation is 1 that fixed covariant, which is adjusted and is converted into average,.Use RAREMETALWORKER
Or RVTESTS softwares are respectively to analyzing hereditary variation and HDL-C incidence relations in each research sample, and then use
RAREMETALS softwares carry out the result that meta analyses merge each research.
Designed with the research of CAD risks using case-control, analyze the notable site of blood fat and CAD pass in each research
System, and application METAL fixed effect inverse weight meta analyses merge each result of study.
The basic condition of study population
Meta analyses include East Asia crowd's sample of 23 research, and 47532 research objects, grind from Chinese ophthalmology altogether
Study carefully (CHES), China's Healthy and nutrition survey (CHNS), Port of Fangcheng men's health inspection investigation (FAMHES), the type of Guizhou Bijie 2
Diabetes study (GBTDS), Hong Kong University's special item plan (HKU-TRS), Hubei coronary heart disease research (HuCAD), China are old
23 researchs such as age population nutrition and investigation of health conditions (NHAPC), sample essential characteristic such as table 2 below.Coronary heart disease CAD association
Research includes 9661 CAD patients and 18558 controls, from Peking University's health science center and medical college of University of Michigan
The research (PUUMA-MI) of myocardial infarction, Hong Kong University's special item plan (HKU-TRS), Hubei coronary heart disease research (HuCAD),
Beijing atherosclerosis study (BAS) and Chinese atherosclerosis study (CAS).Each research obtain its research institution and
Local fact-finding organ Ethics Committee approval.The written signature informed consent form of all participants.
The Exon chip of table 2. detects crowd's essential information
Abbreviation：CHES, Chinese ophthalmology research；CHNS, China's Healthy and nutrition survey；CLHNS, cebu longitudinal direction health and battalion
Support investigation；FAMHES, Port of Fangcheng men's health inspection investigation；GBTDS:Guizhou Bijie diabetes B research；HKU-TRS, Hong Kong
University's special item plan；HuCAD, Hubei coronary heart disease research；NHAPC, Chinese aged's nutrition and investigation of health conditions；
PUUMA, the research of Peking University's health science center and medical college of University of Michigan myocardial infarction；SBCS, Shanghai breast cancer are ground
Study carefully；SCES, the research of Chinese eye section of Singapore；SiMES, Singapore's Malaysian's ophthalmology research；SMHS, Shanghai men's health are ground
Study carefully；SP2, Singapore's perspective study project；SWHS, Shanghai women's health research；TUDR, U.S.'s Taiwanese's diabetic retina
Disease research；TC, T-CHOL；LDL-C, LDL-C；HDL-C, HDL-C；TG, glycerine
Three fat；BMI, body mass index.
Table 3 lists meta analyses PPARAVal227Ala, and (PPARA genes rs1800234 is C, PPARA albumen the 227th
Amino acids sport Ala by Val) and ACACBVal2141Ile (ACACB genes rs2075260 is A, ACACB albumen the 214th
Amino acids sport Ile by Val) and triglycerides association results.
Table 4 lists ACACBVal2141Ile and CAD association results.
The PPARAVal227Ala of table 3 and ACACBVal2141Ile and triglycerides association results
The ACACBVal2141Ile of table 4 and CAD association results
The analyze data of the present invention shows that ACACBVal2141Ile and PPARAVal227Ala and TG are significantly correlated, reach
(P values are respectively 3.95 × 10 to the significance of research-8、3.17×10-7), meta analysis results are shown in Table 3；Simultaneously
ACACBVal2141Ile is also significantly correlated with coronary heart disease, and coronary disease occurs for the horizontal Chinese populations that increase simultaneously of A allele rise TG
The risk (OR=1.04,95%CI=1-1.08, P=0.046) of disease.
Claims (10)
1. detect the reagent material of following Argine Monohydrochloride site and/or its corresponding gene loci in the sample from test individual
Material and/or instrument and equipment are being prepared for assessing in the detecting system of blood lipid level, dyslipidemia and/or incidence of coronary heart disease risk
Application：
The amino acids of ACACB albumen the 2141st and/or the amino acids of PPARA albumen the 227th；
Wherein, gene loci corresponding to Argine Monohydrochloride site refers to correspond in the nucleotide sequence of the gene of encoding said proteins
The nucleotide site of the amino acid sites；Preferably, gene loci corresponding to described be ACACB genes rs2075260 and/or
PPARA genes rs1800234.
2. application according to claim 1, wherein, it is horizontal that blood lipid level includes triglycerides (TG).
3. application according to claim 1, wherein, the amino acids of ACACB albumen the 2141st are Ile or ACACB genes
Rs2075260 allele is that A carrier has higher triglyceride levels, higher dyslipidemia and/or coronary heart disease
Onset risk.
4. application according to claim 1, wherein, the amino acids of PPARA albumen the 227th are Ala or PPARA genes
The carrier that rs1800234 allele is C has relatively low triglyceride levels and/or relatively low dyslipidemia morbidity wind
Danger.
5. application according to claim 1, wherein, the test individual is East Asia crowd.
6. application according to claim 1, wherein, blood of the sample from test individual, urine, saliva, gastric juice, head
Hair or biopsy.
7. application according to claim 1, wherein, the sample is blood.
8. a kind of detecting system for assessing blood lipid level, dyslipidemia and/or incidence of coronary heart disease risk, it includes：Detection comes from
The reagent material and/or instrument of following Argine Monohydrochloride site and/or its corresponding gene loci are set in the sample of test individual
It is standby：The amino acids of ACACB albumen the 2141st and/or the amino acids of PPARA albumen the 227th；
Wherein, gene loci corresponding to Argine Monohydrochloride site refers to correspond in the nucleotide sequence of the gene of encoding said proteins
The nucleotide site of the amino acid sites；Preferably, gene loci corresponding to described be ACACB genes rs2075260 and/or
PPARA genes rs1800234.
9. detecting system according to claim 8, it includes detection unit and assessment unit, wherein：
The detection unit includes Argine Monohydrochloride site and/or its corresponding base described in sample of the detection from test individual
Because of the reagent material and/or instrument and equipment in site, for obtaining the detection knot of test individual gene function hereditary variation situation
Fruit；
The assessment unit includes being used for the processing unit for according to the testing result of detection unit assess processing；Wherein,
The amino acids of ACACB albumen the 2141st be Ile or ACACB gene rs2075260 allele be A carrier have it is higher
Triglyceride levels, higher dyslipidemia and/or incidence of coronary heart disease risk；The amino acids of PPARA albumen the 227th be Ala or
The carrier that PPARA gene rs1800234 allele is C has relatively low triglyceride levels, relatively low dyslipidemia hair
Sick risk.
10. detecting system according to claim 8 or claim 9, wherein, egg described in the sample of the detection from test individual
The reagent material and/or instrument and equipment of casamino acid site and/or gene loci include：
In the reagent of the amino acids of protein level detection ACACB albumen the 2141st and/or the amino acids of PPARA albumen the 227th
Material；And/or
In DNA level, rna level detection ACACB gene rs2075260 and/or PPARA genes rs1800234 reagent material.
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| CN1981034A (en) * | 2004-07-07 | 2007-06-13 | 阿斯利康(瑞典)有限公司 | Acetyl CoA carboxylase splice variant and uses thereof |
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| EDMUND CHAN等: "The V227A polymorphism at the PPARA locus is associated with serum lipid concentrations and modulates the association between dietary polyunsaturated fatty acid intake and serum high density lipoprotein concentrations in Chinese women", 《ATHEROSCLEROSIS》 * |
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