rs2184061
This variant is located in the CDKN2B-AS1 gene.
▶Research that mentions this SNP (1)
▶A functional variant rs1537373 in 9p21.3 region is associated with pancreatic cancer riskAssociationN=5,523Beibei Zhu et al.(2019)· Molecular Carcinogenesis
A two-stage case-control study identified rs1537373 in the ANRIL long non-coding RNA gene region as associated with decreased pancreatic cancer risk (OR=0.82, 95% CI=0.75-0.90, p=1.051×10⁻⁵ in combined analysis of 1567 cases and 4956 controls). Functional assays demonstrated that rs1537373 influences enhancer activity through differential transcription factor binding and regulates CDKN2B gene expression (p=6.00×10⁻⁴ for eQTL), suggesting a mechanism by which this variant confers pancreatic cancer susceptibility.
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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