rs10120688

This variant is located in the CDKN2B-AS1 gene.

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GWAS Catalog Trait Associations (3)

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

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Research that mentions this SNP (2)

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Genome-wide association study and meta-analysis of intraocular pressure
Meta-analysisN=6,236Ozel AB et al.(2014)· Human Genetics

Genome-wide association study and meta-analysis of intraocular pressure (IOP) in 6,236 European ancestry subjects from three cohorts (NEIGHBOR, GLAUGEN, AMD-MMAP MI). Meta-analysis identified a significant association at TMCO1 (rs7518099-G, beta = 0.76 mmHg/allele, p = 8.0 × 10−8). The study replicated previously reported associations at TMCO1, CDKN2B-AS1, GAS7, CAV1/CAV2, and SIX1/SIX6 loci with consistent effect sizes and directions. Results show gender-specific effects and age-dependent trends for IOP association with common variants.

Traits studied:Intraocular pressurePrimary open-angle glaucoma
PubMedDOIMetascience Observatory
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Cyclooxygenase-2 (COX-2) polymorphisms and risk of inflammatory bowel disease in a Scottish and Danish case–control study
AssociationN=1,074Vibeke Andersen et al.(2011)· Inflammatory Bowel Diseases

A case-control study of 326 cases and 748 controls identified 25 SNPs in genes involved in platelet activation, angiogenesis, and inflammatory response that modify the risk of aspirin-related upper gastrointestinal hemorrhage (UGIH). Seven SNPs (rs1387180, rs2238631, rs1799964, rs5050, rs689466, rs1799983, rs7756935) were positive modifiers increasing UGIH risk in aspirin users (RERI 1.75-4.95), while nine SNPs (rs2243086, rs1131882, rs4311994, rs10120688, rs4251961, rs3778355, rs1330344, rs5275, rs3779647) were negative modifiers reducing risk (RERI -2.74 to -0.95). Aspirin exposure alone increased UGIH risk approximately 5.82-fold (95% CI: 2.2-10.08).

Traits studied:Aspirin-induced gastrointestinal bleedingGastric mucosal injuryPeptic ulcerUGIHUpper gastrointestinal hemorrhage
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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