rs2891168

This is a intron variant variant in the CDKN2B-AS1 gene.

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GWAS Catalog Trait Associations (7)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

coronary artery disease

Aragam KG et al. “Discovery and systematic characterization of risk variants and genes for coronary artery disease in over a million participants.” Nature Genetics 54(12):1803-1815 (2022)
Allele A
OR 0.84
p 5.0e-278
N 1,165,690
Large GWAS
European, NR
Koskeridis F et al. “Multi-trait association analysis reveals shared genetic loci between Alzheimer's disease and cardiovascular traits.” Nature Communications 15(1):9827 (2024)
Allele A
OR 0.07
p 8.0e-111
N 640,258
Large GWAS
European, East Asian
van der Harst P et al. “Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease.” Circulation Research 122(3):433-443 (2018)
Allele A
OR 0.19
p 5.0e-204
N 296,525
Large GWAS
Nikpay M et al. “A comprehensive 1,000 Genomes-based genome-wide association meta-analysis of coronary artery disease.” Nature Genetics 47(10):1121-1130 (2015)
Allele A
OR 1.21
p 2.0e-98
N 187,599
Meta-analysisLarge GWAS
multi-ancestry
Nelson CP et al. “Association analyses based on false discovery rate implicate new loci for coronary artery disease.” Nature Genetics 49(9):1385-1391 (2017)
Allele A
OR 1.19
p 1.0e-101
N 63,731
Large GWAS
European, NR

Vasodilators used in cardiac diseases use measurement

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele G
OR 0.15
p 3.0e-48
N 421,385
Large GWAS
multi-ancestry

Abdominal Aortic Aneurysm

Zhou W et al. “Global Biobank Meta-analysis Initiative: Powering genetic discovery across human disease.” Cell Genomics 2(10):100192 (2022)
Allele G
OR 0.20
p 8.0e-35
N 1,455,875
Meta-analysisLarge GWAS
multi-ancestry

HMG CoA reductase inhibitor use measurement

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele G
OR 0.05
p 5.0e-29
N 469,111
Large GWAS
multi-ancestry

Beta blocking agent use measurement

Wu Y et al. “Genome-wide association study of medication-use and associated disease in the UK Biobank.” Nature Communications 10(1):1891 (2019)
Allele G
OR 0.07
p 4.0e-18
N 224,024
Major Consortium StudyLarge GWAS
European

Peptic ulcer and gastro-oesophageal reflux disease (GORD) drug use measurement

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele G
OR 0.03
p 3.0e-9
N 311,093
Large GWAS
multi-ancestry

myocardial infarction

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele G
OR 0.20
p 2.0e-120
N 623,029
Large GWAS
multi-ancestry
Hartiala JA et al. “Genome-wide analysis identifies novel susceptibility loci for myocardial infarction.” European Heart Journal 42(9):919-933 (2021)
Allele G
OR 1.21
p 2.0e-68
N 471,717
Large GWAS
European
Nikpay M et al. “A comprehensive 1,000 Genomes-based genome-wide association meta-analysis of coronary artery disease.” Nature Genetics 47(10):1121-1130 (2015)
Allele G
OR 1.21
p 5.0e-75
N 166,459
Meta-analysisLarge GWAS
multi-ancestry
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Research that mentions this SNP (1)

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A Genetic Variant in the Seed Region of miR-4513 Shows Pleiotropic Effects on Lipid and Glucose Homeostasis, Blood Pressure, and Coronary Artery Disease
ReviewMohsen Ghanbari et al.(2014)· Human Mutation

A comprehensive review of long non-coding RNA (lncRNA) genetic variants identified by GWAS studies in cardiometabolic diseases including coronary artery disease, myocardial infarction, type 2 diabetes, and blood pressure traits. The review highlights key lncRNA loci such as CDKN2B-AS1/ANRIL at 9p21.3 (rs10757278, rs2891168), MIAT (rs4977574, rs10811661), H19 (rs217727), LOC157273 (rs9987289, rs4841132), KCNQ1OT1 (rs231362), and LINC00243 (rs886424), discussing mechanisms of how genetic variants in non-coding RNA regions influence cardiovascular and metabolic disease risk.

Traits studied:AtherosclerosisBlood pressureCardiometabolic disordersCoronary artery calcificationCoronary artery diseaseFasting blood insulinHDL cholesterolLDL cholesterolMyocardial infarctionQT intervalTotal cholesterolTriglyceridesType 1 diabetesType 2 diabetes
PubMedDOIMetascience Observatory

About CDKN2B-AS1

This gene is located within the CDKN2B-CDKN2A gene cluster at chromosome 9p21. The gene product is a functional RNA molecule that interacts with polycomb repressive complex-1 (PRC1) and -2 (PRC2), leading to epigenetic silencing of other genes in this cluster. This region is a significant genetic susceptibility locus for cardiovascular disease, and has also been linked to a number of other pathologies, including several cancers, intracranial aneurysm, type-2 diabetes, periodontitis, Alzheimer's disease, endometriosis, frailty in the elderly, and glaucoma. Multiple alternatively processed transcript variants have been detected, some of which may take the form of circular RNA molecules (PMID:21151960). [provided by RefSeq, May 2014]

View all CDKN2B-AS1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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