JP7160751B2 - 膠原病のリスクを判定する方法 - Google Patents
膠原病のリスクを判定する方法 Download PDFInfo
- Publication number
- JP7160751B2 JP7160751B2 JP2019082638A JP2019082638A JP7160751B2 JP 7160751 B2 JP7160751 B2 JP 7160751B2 JP 2019082638 A JP2019082638 A JP 2019082638A JP 2019082638 A JP2019082638 A JP 2019082638A JP 7160751 B2 JP7160751 B2 JP 7160751B2
- Authority
- JP
- Japan
- Prior art keywords
- genotype
- snp
- disease
- seq
- risk
- Prior art date
- Legal status (The legal status is an assumption and is not a legal conclusion. Google has not performed a legal analysis and makes no representation as to the accuracy of the status listed.)
- Active
Links
- 208000018631 connective tissue disease Diseases 0.000 title claims description 4
- 208000037265 diseases, disorders, signs and symptoms Diseases 0.000 claims description 92
- 201000010099 disease Diseases 0.000 claims description 91
- 238000000034 method Methods 0.000 claims description 32
- 239000002773 nucleotide Substances 0.000 claims description 20
- 125000003729 nucleotide group Chemical group 0.000 claims description 20
- FWMNVWWHGCHHJJ-SKKKGAJSSA-N 4-amino-1-[(2r)-6-amino-2-[[(2r)-2-[[(2r)-2-[[(2r)-2-amino-3-phenylpropanoyl]amino]-3-phenylpropanoyl]amino]-4-methylpentanoyl]amino]hexanoyl]piperidine-4-carboxylic acid Chemical compound C([C@H](C(=O)N[C@H](CC(C)C)C(=O)N[C@H](CCCCN)C(=O)N1CCC(N)(CC1)C(O)=O)NC(=O)[C@H](N)CC=1C=CC=CC=1)C1=CC=CC=C1 FWMNVWWHGCHHJJ-SKKKGAJSSA-N 0.000 claims description 3
- 208000027932 Collagen disease Diseases 0.000 claims description 3
- 230000002596 correlated effect Effects 0.000 claims description 3
- 238000010801 machine learning Methods 0.000 claims description 3
- 210000001124 body fluid Anatomy 0.000 claims description 2
- 239000010839 body fluid Substances 0.000 claims description 2
- 230000000052 comparative effect Effects 0.000 description 27
- 210000000349 chromosome Anatomy 0.000 description 18
- 238000006243 chemical reaction Methods 0.000 description 12
- 239000000523 sample Substances 0.000 description 12
- 108020004414 DNA Proteins 0.000 description 10
- 238000007477 logistic regression Methods 0.000 description 8
- 238000003752 polymerase chain reaction Methods 0.000 description 7
- 239000013611 chromosomal DNA Substances 0.000 description 6
- UYTPUPDQBNUYGX-UHFFFAOYSA-N guanine Chemical compound O=C1NC(N)=NC2=C1N=CN2 UYTPUPDQBNUYGX-UHFFFAOYSA-N 0.000 description 6
- 238000012360 testing method Methods 0.000 description 6
- 238000000018 DNA microarray Methods 0.000 description 5
- 230000003321 amplification Effects 0.000 description 5
- 230000000875 corresponding effect Effects 0.000 description 5
- 239000012634 fragment Substances 0.000 description 5
- 238000003199 nucleic acid amplification method Methods 0.000 description 5
- 102000054765 polymorphisms of proteins Human genes 0.000 description 5
- 238000004458 analytical method Methods 0.000 description 4
- 238000001514 detection method Methods 0.000 description 4
- 230000000694 effects Effects 0.000 description 4
- 238000009396 hybridization Methods 0.000 description 4
- 230000013011 mating Effects 0.000 description 4
- 102000053602 DNA Human genes 0.000 description 3
- 238000012300 Sequence Analysis Methods 0.000 description 3
- 108020004682 Single-Stranded DNA Proteins 0.000 description 3
- 239000003153 chemical reaction reagent Substances 0.000 description 3
- 230000001747 exhibiting effect Effects 0.000 description 3
- 108091008146 restriction endonucleases Proteins 0.000 description 3
- 210000003296 saliva Anatomy 0.000 description 3
- 229930024421 Adenine Natural products 0.000 description 2
- GFFGJBXGBJISGV-UHFFFAOYSA-N Adenine Chemical compound NC1=NC=NC2=C1N=CN2 GFFGJBXGBJISGV-UHFFFAOYSA-N 0.000 description 2
- 201000005569 Gout Diseases 0.000 description 2
- 238000000585 Mann–Whitney U test Methods 0.000 description 2
- 229960000643 adenine Drugs 0.000 description 2
- 238000013528 artificial neural network Methods 0.000 description 2
- 239000008280 blood Substances 0.000 description 2
- 210000004369 blood Anatomy 0.000 description 2
- 230000037182 bone density Effects 0.000 description 2
- 238000013527 convolutional neural network Methods 0.000 description 2
- OPTASPLRGRRNAP-UHFFFAOYSA-N cytosine Chemical compound NC=1C=CNC(=O)N=1 OPTASPLRGRRNAP-UHFFFAOYSA-N 0.000 description 2
- 239000003814 drug Substances 0.000 description 2
- 108020004707 nucleic acids Proteins 0.000 description 2
- 102000039446 nucleic acids Human genes 0.000 description 2
- 150000007523 nucleic acids Chemical group 0.000 description 2
- 238000007894 restriction fragment length polymorphism technique Methods 0.000 description 2
- RWQNBRDOKXIBIV-UHFFFAOYSA-N thymine Chemical group CC1=CNC(=O)NC1=O RWQNBRDOKXIBIV-UHFFFAOYSA-N 0.000 description 2
- 102000008186 Collagen Human genes 0.000 description 1
- 108010035532 Collagen Proteins 0.000 description 1
- 201000009273 Endometriosis Diseases 0.000 description 1
- 208000034826 Genetic Predisposition to Disease Diseases 0.000 description 1
- 206010071602 Genetic polymorphism Diseases 0.000 description 1
- 206010061218 Inflammation Diseases 0.000 description 1
- 238000007397 LAMP assay Methods 0.000 description 1
- 108020005187 Oligonucleotide Probes Proteins 0.000 description 1
- 206010033645 Pancreatitis Diseases 0.000 description 1
- PNNCWTXUWKENPE-UHFFFAOYSA-N [N].NC(N)=O Chemical compound [N].NC(N)=O PNNCWTXUWKENPE-UHFFFAOYSA-N 0.000 description 1
- 230000005856 abnormality Effects 0.000 description 1
- 210000000988 bone and bone Anatomy 0.000 description 1
- 239000000872 buffer Substances 0.000 description 1
- 238000004364 calculation method Methods 0.000 description 1
- 210000000845 cartilage Anatomy 0.000 description 1
- 210000004027 cell Anatomy 0.000 description 1
- 239000003795 chemical substances by application Substances 0.000 description 1
- 238000003776 cleavage reaction Methods 0.000 description 1
- 229920001436 collagen Polymers 0.000 description 1
- 238000007796 conventional method Methods 0.000 description 1
- 238000002790 cross-validation Methods 0.000 description 1
- 229940104302 cytosine Drugs 0.000 description 1
- 210000004207 dermis Anatomy 0.000 description 1
- 208000035475 disorder Diseases 0.000 description 1
- 229940079593 drug Drugs 0.000 description 1
- 238000005516 engineering process Methods 0.000 description 1
- 230000006870 function Effects 0.000 description 1
- 238000012252 genetic analysis Methods 0.000 description 1
- 230000002068 genetic effect Effects 0.000 description 1
- 230000004054 inflammatory process Effects 0.000 description 1
- 210000003041 ligament Anatomy 0.000 description 1
- 210000002200 mouth mucosa Anatomy 0.000 description 1
- 239000002751 oligonucleotide probe Substances 0.000 description 1
- 230000002265 prevention Effects 0.000 description 1
- 108090000623 proteins and genes Proteins 0.000 description 1
- 102000004169 proteins and genes Human genes 0.000 description 1
- 238000007637 random forest analysis Methods 0.000 description 1
- 230000000306 recurrent effect Effects 0.000 description 1
- 238000000611 regression analysis Methods 0.000 description 1
- 206010039073 rheumatoid arthritis Diseases 0.000 description 1
- 238000012502 risk assessment Methods 0.000 description 1
- 230000007017 scission Effects 0.000 description 1
- 238000012163 sequencing technique Methods 0.000 description 1
- 210000003765 sex chromosome Anatomy 0.000 description 1
- 238000013179 statistical model Methods 0.000 description 1
- 239000000758 substrate Substances 0.000 description 1
- 238000012706 support-vector machine Methods 0.000 description 1
- 230000009885 systemic effect Effects 0.000 description 1
- 210000002435 tendon Anatomy 0.000 description 1
- 229940113082 thymine Drugs 0.000 description 1
- 210000000689 upper leg Anatomy 0.000 description 1
- 210000002700 urine Anatomy 0.000 description 1
- 238000010200 validation analysis Methods 0.000 description 1
- 238000012795 verification Methods 0.000 description 1
Images
Landscapes
- Investigating Or Analysing Biological Materials (AREA)
- Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
Priority Applications (1)
| Application Number | Priority Date | Filing Date | Title |
|---|---|---|---|
| JP2019082638A JP7160751B2 (ja) | 2019-04-24 | 2019-04-24 | 膠原病のリスクを判定する方法 |
Applications Claiming Priority (1)
| Application Number | Priority Date | Filing Date | Title |
|---|---|---|---|
| JP2019082638A JP7160751B2 (ja) | 2019-04-24 | 2019-04-24 | 膠原病のリスクを判定する方法 |
Publications (3)
| Publication Number | Publication Date |
|---|---|
| JP2020178588A JP2020178588A (ja) | 2020-11-05 |
| JP2020178588A5 JP2020178588A5 (enrdf_load_stackoverflow) | 2022-03-22 |
| JP7160751B2 true JP7160751B2 (ja) | 2022-10-25 |
Family
ID=73022529
Family Applications (1)
| Application Number | Title | Priority Date | Filing Date |
|---|---|---|---|
| JP2019082638A Active JP7160751B2 (ja) | 2019-04-24 | 2019-04-24 | 膠原病のリスクを判定する方法 |
Country Status (1)
| Country | Link |
|---|---|
| JP (1) | JP7160751B2 (enrdf_load_stackoverflow) |
-
2019
- 2019-04-24 JP JP2019082638A patent/JP7160751B2/ja active Active
Non-Patent Citations (8)
| Title |
|---|
| Annals of the Rheumatic Disieases，2016年，Vol.785，p.652-659 |
| Database dbSNP, rs2062377, [online]，2021年04月09日，https://www.ncbi.nlm.nih.gov/snp/rs2062377，[2022年6月23日検索] |
| Database dbSNP, rs2188380, [online]，2021年04月09日，https://www.ncbi.nlm.nih.gov/snp/rs2188380，[2022年6月23日検索] |
| Database dbSNP, rs2840381, [online]，2021年04月09日，https://www.ncbi.nlm.nih.gov/snp/rs2840381，[2022年6月23日検索] |
| Database dbSNP, rs3775948, [online]，2021年04月09日，https://www.ncbi.nlm.nih.gov/snp/rs3775948， [2022年6月23日検索] |
| Database dbSNP, rs3781913, [online]，2021年04月09日，https://www.ncbi.nlm.nih.gov/snp/rs3781913，[2022年6月23日検索] |
| Frontiers in Genetics，2016年，Vol.7，Article185 |
| Scientific Reports，2016年，Vol.6，25360 |
Also Published As
| Publication number | Publication date |
|---|---|
| JP2020178588A (ja) | 2020-11-05 |
Similar Documents
| Publication | Publication Date | Title |
|---|---|---|
| JP7165099B2 (ja) | 心筋梗塞及び／又は狭心症のリスクを判定する方法 | |
| JP7161442B2 (ja) | リウマチのリスクを判定する方法 | |
| JP7140707B2 (ja) | 緑内障のリスクを判定する方法 | |
| JP7161441B2 (ja) | 慢性副鼻腔炎のリスクを判定する方法 | |
| JP7165617B2 (ja) | 高血圧のリスクを判定する方法 | |
| JP7165098B2 (ja) | 動脈硬化のリスクを判定する方法 | |
| JP7160751B2 (ja) | 膠原病のリスクを判定する方法 | |
| JP7137525B2 (ja) | 接触性皮膚炎のリスクを判定する方法 | |
| JP7108572B2 (ja) | 過食症のリスクを判定する方法 | |
| JP7108573B2 (ja) | 慢性中耳炎のリスクを判定する方法 | |
| JP7106490B2 (ja) | 胆石のリスクを判定する方法 | |
| JP7106487B2 (ja) | 潰瘍性大腸炎のリスクを判定する方法 | |
| JP7107884B2 (ja) | 食物アレルギーのリスクを判定する方法 | |
| JP7138077B2 (ja) | 卵巣がん及び／又は子宮がんのリスクを判定する方法 | |
| JP7160749B2 (ja) | 先天性股関節脱臼のリスクを判定する方法 | |
| JP7137519B2 (ja) | 結核のリスクを判定する方法 | |
| JP7137524B2 (ja) | 変形性膝関節症のリスクを判定する方法 | |
| JP7138073B2 (ja) | 注意欠陥多動性症候群のリスクを判定する方法 | |
| JP7097850B2 (ja) | 遠視のリスクを判定する方法 | |
| JP7161443B2 (ja) | 尿管結石及び／又は腎結石のリスクを判定する方法 | |
| JP7108574B2 (ja) | アレルギー性結膜炎のリスクを判定する方法 | |
| JP7137521B2 (ja) | 乾癬のリスクを判定する方法 | |
| JP7137520B2 (ja) | 膵炎のリスクを判定する方法 | |
| JP7106485B2 (ja) | 発達障害のリスクを判定する方法 | |
| JP7138075B2 (ja) | 甲状腺機能低下症のリスクを判定する方法 |
Legal Events
| Date | Code | Title | Description |
|---|---|---|---|
| A521 | Request for written amendment filed |
Free format text: JAPANESE INTERMEDIATE CODE: A523 Effective date: 20200609 |
|
| A621 | Written request for application examination |
Free format text: JAPANESE INTERMEDIATE CODE: A621 Effective date: 20220124 |
|
| A521 | Request for written amendment filed |
Free format text: JAPANESE INTERMEDIATE CODE: A523 Effective date: 20220311 |
|
| A131 | Notification of reasons for refusal |
Free format text: JAPANESE INTERMEDIATE CODE: A131 Effective date: 20220628 |
|
| A521 | Request for written amendment filed |
Free format text: JAPANESE INTERMEDIATE CODE: A523 Effective date: 20220802 |
|
| TRDD | Decision of grant or rejection written | ||
| A01 | Written decision to grant a patent or to grant a registration (utility model) |
Free format text: JAPANESE INTERMEDIATE CODE: A01 Effective date: 20220926 |
|
| A61 | First payment of annual fees (during grant procedure) |
Free format text: JAPANESE INTERMEDIATE CODE: A61 Effective date: 20221013 |
|
| R150 | Certificate of patent or registration of utility model |
Ref document number: 7160751 Country of ref document: JP Free format text: JAPANESE INTERMEDIATE CODE: R150 |