A
9p21 chromosomal locus
Genetic & Family HistoryGenetic / heritablerisknon modifiable
54
evidence score
Also known as: 9p21, 9p21 CAD risk locus, 9p21 locus
PREVENT status
Not a PREVENT input variable.
Causal support
observational only
Score components
lit volume: 16.6meta-analyses: 17.6trials: 0genetic: 20MR bonus:
Associated genes
CDKN2B-AS1
References (45)
6 meta-analyses / systematic reviews- METARs10757274 gene polymorphisms in coronary artery disease: A systematic review and a meta-analysis. — Medicine 2020 · PMID 32011499
- METAAssociation between the chromosome 9p21 locus and angiographic coronary artery disease burden: a collaborative meta-analysis. — Journal of the American College of Cardiology 2013 · PMID 23352782
- METAMeta-analysis of genetic association of chromosome 9p21 with early-onset coronary artery disease. — Gene 2012 · PMID 22975211
- METAAssociation between 9p21.3 genomic markers and coronary artery disease in East Asians: a meta-analysis involving 9,813 cases and 10,710 controls. — Molecular biology reports 2012 · PMID 23086272
- METADesign of the Coronary ARtery DIsease Genome-Wide Replication And Meta-Analysis (CARDIoGRAM) Study: A Genome-wide association meta-analysis involving more than 22 000 cases and 60 000 controls. — Circulation. Cardiovascular genetics 2010 · PMID 20923989
- METARepeated replication and a prospective meta-analysis of the association between chromosome 9p21.3 and coronary artery disease. — Circulation 2008 · PMID 18362232
- The 9p21.3 coronary artery disease risk locus drives vascular smooth muscle cells to an osteochondrogenic state. — bioRxiv : the preprint server for biology 2025 · PMID 38853913
- The 9p21.3 Coronary Artery Disease Risk Locus Drives Vascular Smooth Muscle Cells to an Osteochondrogenic State. — Arteriosclerosis, thrombosis, and vascular biology 2025 · PMID 40143812
- Enhancer-targeting CRISPR screens at coronary artery disease loci suggest shared mechanisms of disease risk. — medRxiv : the preprint server for health sciences 2025 · PMID 40950476
- Deep learning-derived splenic radiomics, genomics, and coronary artery disease. — medRxiv : the preprint server for health sciences 2024 · PMID 39185532
- The mechanisms of Chr.9p21.3 risk locus in coronary artery disease: where are we today? — American journal of physiology. Heart and circulatory physiology 2024 · PMID 39656484
- Genetic Regulation of SMC Gene Expression and Splicing Predict Causal CAD Genes. — Circulation research 2023 · PMID 36597873
- Influence of Chromosome 9p21.3 rs1333049 Variant on Telomere Length and Their Interactive Impact on the Prognosis of Coronary Artery Disease. — Journal of cardiovascular development and disease 2023 · PMID 37754816
- Bidirectional relationship between type 2 diabetes mellitus and coronary artery disease: Prospective cohort study and genetic analyses. — Chinese medical journal 2023 · PMID 38062574
- The Role of ANRIL in Atherosclerosis. — Disease markers 2022 · PMID 35186169
- Large-scale genome-wide association study of coronary artery disease in genetically diverse populations. — Nature medicine 2022 · PMID 35915156
- Effect of 9p21.3 (lncRNA and CDKN2A/2B) variant on lipid profile. — Frontiers in cardiovascular medicine 2022 · PMID 36158791
- Genetic Association of rs10757278 on Chromosome 9p21 and Coronary Artery Disease in a Saudi Population. — International journal of general medicine 2021 · PMID 33981157
- Genetic variants of PON1, GSTM1, GSTT1, and locus 9p21.3, and the risk for premature coronary artery disease in Yucatan, Mexico. — American journal of human biology : the official journal of the Human Biology Council 2021 · PMID 34766662
- Association between Coronary Artery Disease and rs10757278 and rs1333049 Polymorphisms in 9p21 Locus in Iran. — Reports of biochemistry & molecular biology 2020 · PMID 32821752
- A Journey through Genetic Architecture and Predisposition of Coronary Artery Disease. — Current genomics 2020 · PMID 33093801
- A review on coronary artery disease, its risk factors, and therapeutics. — Journal of cellular physiology 2019 · PMID 30790284
- Association of Chromosome 9p21 With Subsequent Coronary Heart Disease Events. — Circulation. Genomic and precision medicine 2019 · PMID 30897348
- 9p21.3 coronary artery disease risk locus and interferon alpha 21: Association study in an Asian Indian population. — Indian heart journal 2019 · PMID 32248921
- Effects of the coronary artery disease associated LPA and 9p21 loci on risk of aortic valve stenosis. — International journal of cardiology 2018 · PMID 30482443
- Association Study Between Coronary Artery Disease and rs1333049 Polymorphism at 9p21.3 Locus in Italian Population. — Journal of cardiovascular translational research 2017 · PMID 28639227
- The 9p21.3 risk locus for coronary artery disease: A 10-year search for its mechanism. — Journal of Taibah University Medical Sciences 2017 · PMID 31435240
- Variants in 9p21 Predicts Severity of Coronary Artery Disease in a Chinese Han Population. — Annals of human genetics 2016 · PMID 27461153
- Genetics of coronary artery disease. — Circulation research 2014 · PMID 24902973
- Genetics of coronary artery disease: an update. — Methodist DeBakey cardiovascular journal 2014 · PMID 24932356
- Genetics of abdominal aortic aneurysm. — Current opinion in cardiology 2013 · PMID 23478885
- Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants. — Stroke 2013 · PMID 24262325
- Inflammation and coronary artery disease: insights from genetic studies. — The Canadian journal of cardiology 2012 · PMID 22902153
- Genes and coronary artery disease: where are we? — Journal of the American College of Cardiology 2012 · PMID 23040572
- Emerging genomic applications in coronary artery disease. — JACC. Cardiovascular interventions 2011 · PMID 21596318
- The coronary artery disease-associated 9p21 variant and later life 20-year survival to cohort extinction. — Circulation. Cardiovascular genetics 2011 · PMID 21852414
- 9p21 and the genetic revolution for coronary artery disease. — Clinical chemistry 2011 · PMID 22015375
- From candidate gene to genome-wide association studies in cardiovascular disease. — Thrombosis research 2011 · PMID 22154244
- Genomics in coronary artery disease: past, present and future. — The Canadian journal of cardiology 2010 · PMID 20386763
- Cardiovascular Disease Risk Prediction With and Without Knowledge of Genetic Variation at Chromosome 9p21.3 — Annals of Internal Medicine 2009 · PMID 19153409
- The 9p21 susceptibility locus for coronary artery disease and the severity of coronary atherosclerosis. — BMC cardiovascular disorders 2009 · PMID 19173706
- Genetic variants associated with Lp(a) lipoprotein level and coronary disease. — The New England journal of medicine 2009 · PMID 20032323
- Coronary artery disease-associated locus on chromosome 9p21 and early markers of atherosclerosis. — Arteriosclerosis, thrombosis, and vascular biology 2008 · PMID 18599798
- Association between the coronary artery disease risk locus on chromosome 9p21.3 and abdominal aortic aneurysm. — Circulation. Cardiovascular genetics 2008 · PMID 20031540
- A Common Allele on Chromosome 9 Associated with Coronary Heart Disease — Science 2007 · PMID 17478681
Clinical trials (0)
None linked.
Genetic associations (293)
showing top 80 by significance| Variant | Gene(s) | Trait | p | OR/β | Study |
|---|---|---|---|---|---|
| CDKN2B-AS1 | 1e-356 | — | GCST90492734 | ||
| rs2891168 | CDKN2B-AS1 | coronary artery disorder | 1e-300 | — | GCST90451698 |
| CDKN2B-AS1 | 1e-300 | — | GCST90451698 | ||
| rs2891168 | CDKN2B-AS1 | coronary artery disorder | 1e-295 | 0.177893 unit increase | GCST010866 |
| CDKN2B-AS1 | 1e-295 | 0.177893 unit increase | GCST010866 | ||
| rs2891168 | CDKN2B-AS1 | coronary artery disorder | 1e-278 | 0.84 | GCST90132314 |
| CDKN2B-AS1 | 1e-278 | 0.84 | GCST90132314 | ||
| rs4977574 | CDKN2B-AS1 | coronary artery disorder | 1e-223 | 0.1788 unit decrease | GCST005195 |
| CDKN2B-AS1 | 1e-223 | 0.1788 unit decrease | GCST005195 | ||
| CDKN2B-AS1 | 1e-209 | 0.0518 unit increase | GCST90662896 | ||
| CDKN2B-AS1 | 1e-205 | 0.1471 unit decrease | GCST010557 | ||
| rs2891168 | CDKN2B-AS1 | coronary artery disorder | 1e-204 | 0.189 unit decrease | GCST005194 |
| CDKN2B-AS1 | 1e-204 | 0.189 unit decrease | GCST005194 | ||
| CDKN2B-AS1 | 1e-200 | 1.17 | GCST90132183 | ||
| rs1333049 | CDKN2B-AS1 | coronary artery disorder | 1e-192 | 0.1879 unit increase | GCST005196 |
| CDKN2B-AS1 | 1e-192 | 0.1879 unit increase | GCST005196 | ||
| CDKN2B-AS1 | 1e-177 | 0.169 unit decrease | GCST90693212 | ||
| CDKN2B-AS1 | 1e-176 | — | GCST90838671 | ||
| CDKN2B-AS1 | 1e-171 | 0.2327 unit increase | GCST90310211 | ||
| rs1537371 | CDKN2B-AS1 | coronary atherosclerosis | 1e-166 | 0.1568 unit decrease | GCST90480132 |
| CDKN2B-AS1 | 1e-166 | 0.1568 unit decrease | GCST90480132 | ||
| CDKN2B-AS1 | 1e-164 | 1.2 | GCST010118 | ||
| CDKN2B-AS1 | 1e-161 | 0.1016 unit increase | GCST90475094 | ||
| rs1537372 | CDKN2B-AS1 | coronary artery disorder | 1e-158 | — | GCST90129546 |
| CDKN2B-AS1 | 1e-158 | — | GCST90129546 | ||
| CDKN2B-AS1 | 1e-157 | 0.1637 unit decrease | GCST90475872 | ||
| rs1537372 | CDKN2B-AS1 | coronary artery disorder | 1e-155 | — | GCST90129544 |
| rs1537372 | CDKN2B-AS1 | coronary artery disorder | 1e-155 | — | GCST90129543 |
| rs1537372 | CDKN2B-AS1 | coronary artery disorder | 1e-155 | — | GCST90129542 |
| CDKN2B-AS1 | 1e-155 | — | GCST90129544 | ||
| CDKN2B-AS1 | 1e-155 | — | GCST90129543 | ||
| CDKN2B-AS1 | 1e-155 | — | GCST90129542 | ||
| rs1537372 | CDKN2B-AS1 | coronary artery disorder | 1e-154 | — | GCST90129545 |
| CDKN2B-AS1 | 1e-154 | — | GCST90129545 | ||
| CDKN2B-AS1 | 1e-150 | 0.09618 unit increase | GCST90475091 | ||
| CDKN2B-AS1 | 1e-148 | 0.22508699 unit decrease | GCST90310210 | ||
| CDKN2B-AS1 | 1e-144 | 0.118 unit decrease | GCST90129627 | ||
| CDKN2B-AS1 | 1e-143 | 0.1702 unit decrease | GCST90480133 | ||
| rs2891168 | CDKN2B-AS1 | myocardial infarction | 1e-141 | 1.21 | GCST011365 |
| CDKN2B-AS1 | 1e-141 | 0.09432 unit increase | GCST90475097 | ||
| CDKN2B-AS1 | 1e-141 | 1.21 | GCST011365 | ||
| CDKN2B-AS1 | 1e-140 | 0.1307 unit decrease | GCST90475869 | ||
| rs1537371 | CDKN2B-AS1 | coronary artery disorder | 1e-139 | 0.1383 unit decrease | GCST90480134 |
| CDKN2B-AS1 | 1e-139 | 0.1383 unit decrease | GCST90480134 | ||
| CDKN2B-AS1 | 1e-135 | 0.09788 unit increase | GCST90476296 | ||
| CDKN2B-AS1 | 1e-134 | 0.08326 unit increase | GCST90475332 | ||
| CDKN2B-AS1 | 1e-132 | 0.177 unit increase | GCST90132184 | ||
| CDKN2B-AS1 | 1e-131 | 0.1699 unit decrease | GCST90480067 | ||
| CDKN2B-AS1 | 1e-130 | 0.0439 unit increase | GCST90662907 | ||
| rs1333042 | CDKN2B-AS1 | coronary artery disorder | 1e-129 | 0.1814 unit decrease | GCST90479543 |
| CDKN2B-AS1 | 1e-129 | 0.1814 unit decrease | GCST90479543 | ||
| rs4977574 | CDKN2B-AS1 | myocardial infarction | 1e-128 | 0.8381 | GCST90432175 |
| CDKN2B-AS1 | 1e-128 | 0.8381 | GCST90432175 | ||
| CDKN2B-AS1 | 1e-125 | 0.0157 unit decrease | GCST90129592 | ||
| rs2891168 | CDKN2B-AS1 | myocardial infarction | 1e-120 | 0.2022 unit increase | GCST90018877 |
| CDKN2B-AS1 | 1e-120 | 0.2022 unit increase | GCST90018877 | ||
| CDKN2B-AS1 | 1e-118 | 0.1176 unit increase | GCST90475667 | ||
| CDKN2B-AS1 | 1e-117 | 0.1176 unit increase | GCST90475658 | ||
| CDKN2B-AS1 | 1e-116 | — | GCST90137411 | ||
| CDKN2B-AS1 | 1e-115 | 1.27 | GCST009379 | ||
| rs4977574 | CDKN2B-AS1 | abdominal aortic aneurysm | 1e-114 | 0.182 unit decrease | GCST90432152 |
| CDKN2B-AS1 | 1e-114 | 0.182 unit decrease | GCST90432152 | ||
| CDKN2B-AS1 | 1e-114 | 0.1644 unit decrease | GCST90018926 | ||
| CDKN2B-AS1 | 1e-112 | 0.1379 unit decrease | GCST010555 | ||
| rs2891168 | CDKN2B-AS1 | coronary artery disorder | 1e-111 | 0.06921224 unit increase | GCST90449059 |
| CDKN2B-AS1 | 1e-111 | 0.06921224 unit increase | GCST90449059 | ||
| rs1333042 | CDKN2B-AS1 | coronary artery disorder | 1e-109 | 0.174 unit decrease | GCST90479542 |
| CDKN2B-AS1 | 1e-109 | 0.148 unit increase | GCST90132185 | ||
| CDKN2B-AS1 | 1e-109 | 0.174 unit decrease | GCST90479542 | ||
| CDKN2B-AS1 | 1e-107 | 0.1381 unit decrease | GCST90480069 | ||
| CDKN2B-AS1 | 1e-104 | 0.19933 unit increase | GCST90399470 | ||
| CDKN2B-AS1 | 1e-103 | 0.1803 unit decrease | GCST90018981 | ||
| rs2891168 | CDKN2B-AS1 | coronary artery disorder | 1e-101 | 1.19 | GCST004787 |
| CDKN2B-AS1 | 1e-101 | 1.19 | GCST004787 | ||
| CDKN2B-AS1 | 1e-101 | 0.1696 unit increase | GCST90018793 | ||
| CDKN2B-AS1 | 1e-99 | 0.8382419 | GCST90013693 | ||
| rs2891168 | CDKN2B-AS1 | coronary artery disorder | 1e-98 | 1.21 | GCST003116 |
| CDKN2B-AS1 | 1e-98 | 1.21 | GCST003116 | ||
| CDKN2B-AS1 | 1e-98 | 0.0731929 unit decrease | GCST90662860 | ||
| CDKN2B-AS1 | 1e-94 | 0.04893604 unit decrease | GCST90468072 |