rs2811712
This variant is located in the CDKN2B-AS1 gene.
▶Research that mentions this SNP (1)
▶Consortium analysis of 7 candidate SNPs for ovarian cancerAssociationN=12,737Susan J. Ramus et al.(2008)· International Journal of Cancer
This consortium analysis of 14 case-control studies (4,624 ovarian cancer cases and 8,113 controls) evaluated 7 candidate SNPs (AURKA rs2273535, BRCA2 rs144848, RB1 rs2854344, CDKN2A rs2811712, SRD5A2 rs523349/rs632148, CASP8 rs1045485, TGFB1 rs1982073) for association with ovarian cancer risk. Only RB1 rs2854344 showed a marginally significant association with decreased ovarian cancer risk (ordinal OR 0.88, 95% CI 0.79-1.00, p=0.041; dominant OR 0.87, 95% CI 0.76-0.98, p=0.025), while AURKA showed suggestive evidence when heterogeneous studies were excluded (ordinal OR 1.10, p=0.027). The other 5 SNPs showed no significant association, providing informative null results.
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.
Community Wiki
No community notes yet for this variant. Sign in to start one.
Comments
Sign in to join the discussion.
Loading comments…