rs495490
This is a upstream gene variant variant in the CDKN2B 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
This gene lies adjacent to the tumor suppressor gene CDKN2A in a region that is frequently mutated and deleted in a wide variety of tumors. This gene encodes a cyclin-dependent kinase inhibitor, which forms a complex with CDK4 or CDK6, and prevents the activation of the CDK kinases, thus the encoded protein functions as a cell growth regulator that controls cell cycle G1 progression. The expression of this gene was found to be dramatically induced by TGF beta, which suggested its role in the TGF beta induced growth inhibition. Two alternatively spliced transcript variants of this gene, which encode distinct proteins, have been reported. [provided by RefSeq, Jul 2008]
View all CDKN2B variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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