rs3217992
This is a 3 prime utr variant variant in the CDKN2B gene.
▶GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
breast cancer, lung cancer
▶ClinVar annotation
▶Research that mentions this SNP (2)
▶Genetic Variants in MicroRNAs and Their Binding Sites Are Associated with the Risk of Parkinson DiseaseAssociationN=233Ghanbari M. et al.(2016)· Human Mutation
Case-control study of 120 Greek POAG patients and 113 controls examining the association of miR182 rs76481776 and CDKN2B rs3217992 polymorphisms with primary open-angle glaucoma. The T allele of rs76481776 was significantly associated with increased POAG risk (OR: 2.62, 95% CI: 1.56-4.39, p=0.0002), as was the A allele of rs3217992 (OR: 1.72, 95% CI: 1.18-2.49, p=0.005). Both variants are proposed to affect miRNA-mediated regulation and increase glaucoma susceptibility in the Greek population.
▶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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