rs3731249
This is a variant in the CDKN2A gene that changes a alanine to an proline.
▶GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
HbA1c measurement
coronary artery disease
▶ClinVar annotation
Familial melanoma; Hereditary cancer-predisposing syndrome
View on ClinVar →▶Research that mentions this SNP (4)
▶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.
▶Evaluation of 64 candidate single nucleotide polymorphisms as risk factors for neural tube defects in a large Irish study populationAssociationN=2,079Tonia C. Carter et al.(2011)· American Journal of Medical Genetics Part A
This case-control and family-based study evaluated 64 SNPs in 34 genes for associations with spina bifida in 558 Irish case-families and 994 controls. Spina bifida was significantly associated with LEPR rs1805134 (GRR: 1.5, P = 0.0264) and COMT rs737865 (GRR: 1.4, P = 0.0206), with additional confirmations of previous findings in MTHFR 677C>T and other genes, suggesting roles for leptin signaling and methylation pathways in neural tube defect pathogenesis.
▶Genotype and haplotype analysis of cell cycle genes in sporadic colorectal cancer in the Czech RepublicAssociationN=1,228Polakova V. et al.(2009)· Human Mutation
Case-control study of 614 colorectal cancer patients and 614 matched controls in the Czech Republic examining TP53, CDKN1A, and CDKN2A polymorphisms. While individual SNPs showed no associations, TP53 haplotype analysis revealed significant results (global P<0.0001), with the A(2)CCG haplotype showing increased risk (OR=1.40) and five other haplotypes showing decreased risk.
▶Cyclin D1 splice variant and risk for non-Hodgkin lymphomaAssociationN=1,110Sophia S. Wang et al.(2006)· Human Genetics
Case-control study examining associations between cell cycle gene polymorphisms and non-Hodgkin lymphoma (NHL) overall and subtypes. Studied 10 SNPs in genes including BCL6 (rs1056932), CCND1 (rs603965, rs678653), CCNH (rs2266690), CDKN2A (rs3731249, rs11515, rs3088440), CHEK1 (rs506504), LMO2 (rs2038602, rs3740617), and TERT (rs2736098, rs2853690). Notable associations included CCND1 rs603965 with increased NHL risk (p trend=0.021) and CCND1 rs603965 AA genotype with DLBCL (OR=1.4, 95% CI 1.0-2.0).
About CDKN2A
This gene generates several transcript variants which differ in their first exons. At least three alternatively spliced variants encoding distinct proteins have been reported, two of which encode structurally related isoforms known to function as inhibitors of CDK4 kinase. The remaining transcript includes an alternate first exon located 20 Kb upstream of the remainder of the gene; this transcript contains an alternate open reading frame (ARF) that specifies a protein which is structurally unrelated to the products of the other variants. This ARF product functions as a stabilizer of the tumor suppressor protein p53 as it can interact with, and sequester, the E3 ubiquitin-protein ligase MDM2, a protein responsible for the degradation of p53. In spite of the structural and functional differences, the CDK inhibitor isoforms and the ARF product encoded by this gene, through the regulatory roles of CDK4 and p53 in cell cycle G1 progression, share a common functionality in cell cycle G1 control. This gene is frequently mutated or deleted in a wide variety of tumors, and is known to be an important tumor suppressor gene. [provided by RefSeq, Sep 2012]
View all CDKN2A variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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