rs3218009
This is a downstream gene variant variant in the CDKN2B-AS1 gene.
▶Research that mentions this SNP (1)
▶Strong association of common variants in the CDKN2A/CDKN2B region with type 2 diabetes in French EuropidsAssociationN=3,093Duesing K. et al.(2008)· Diabetologia
A replication study of genome-wide association findings in the CDKN2A/CDKN2B region on chromosome 9p in 3,093 French Europids (1,455 cases, 1,638 controls). The study confirms a strong association of rs10811661 with type 2 diabetes (p=3.8×10⁻⁷, OR 1.43 [95% CI 1.24-1.64]) and identifies rs3218018 as a secondary signal surviving Bonferroni correction (p=0.002). The rs564398 variant did not reach significance in this population.
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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