rs11515
This is a downstream gene variant variant in the CDKN2A 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.
reticulocyte amount
▶ClinVar annotation
Squamous cell lung carcinoma; not specified
View on ClinVar →▶Research that mentions this SNP (3)
▶Genetic variability in DNA repair and cell cycle control pathway genes and risk of smoking‐related lung cancerAssociationN=1,651Shama C. Buch et al.(2012)· Molecular Carcinogenesis
This case-control study of 722 lung cancer cases and 929 controls examined 240 SNPs in DNA repair and cell cycle control pathway genes among smokers. Thirty-eight SNPs were associated with lung cancer risk at P<0.05, with strongest associations in GTF2H4 (rs2074508), LIG1 (rs10500298), PARP1 (rs747658, rs3219073), and XRCC1 (rs1799782, rs3213255). A genetic risk score combining 31 SNPs showed 3.44-fold increased risk in the highest versus lowest quartile.
▶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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