rs678653

This is a regulatory region variant variant in the CCND1 gene.

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GWAS Catalog Trait Associations (1)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

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Research that mentions this SNP (4)

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Genetic sequence variants and the development of secondary primary cancers in patients with head and neck cancers
AssociationN=531Abul Kalam Azad et al.(2012)· Cancer

This case-control association study evaluated 23 genetic sequence variants in 17 genes across DNA repair, cell cycle, and other pathways in 531 stage I-II radiation-treated head and neck cancer (HNC) patients to identify associations with secondary primary cancers (SPCs). Among the variants tested, the DNMT3B C149T variant (rs2424913) showed a strong significant association with SPC development, with adjusted hazard ratios of 2.23 (95% CI, 1.32-3.78; P = .003) for TT versus CC genotype and 1.49 (95% CI, 1.15-1.95; P = .003) per T allele. A haplotype cluster of 5 DNMT3B variants in strong linkage disequilibrium also showed significant associations (P < .003), suggesting aberrant DNA methylation is an important modulator of field cancerization in HNC.

Traits studied:Head and neck cancerSecondary primary cancer (SPC)
PubMedDOIMetascience Observatory
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Genetic variability in DNA repair and cell cycle control pathway genes and risk of smoking‐related lung cancer
AssociationN=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.

Traits studied:AdenocarcinomaLung cancerNon-small cell lung cancerSmall cell lung cancerSmoking-related lung cancerSquamous cell carcinoma
PubMedDOIMetascience Observatory
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Association of cyclin D1 gene polymorphisms with risk of esophageal squamous cell carcinoma in Kashmir Valley—A high risk area
AssociationN=302Showket Hussain et al.(2011)· Molecular Carcinogenesis

A case-control study investigating CCND1 gene polymorphisms (G870A and G1722C) in 151 esophageal squamous cell carcinoma (ESCC) cases and 151 controls from Kashmir Valley found that the G870A rs9344 variant (GA+AA genotypes) conferred 2.8-fold increased ESCC risk (OR=2.8, 95% CI=1.77-4.42, P=0.0001). The novel G1722C rs678653 variant (CC genotype) showed 2.58-fold increased risk (OR=2.58, 95% CI=1.61-4.15, P=0.0001). Gene-environment interactions with smoking (OR=4.22, P=0.0005) and hot salted tea consumption >3 cups/day (OR=5.1, P=0.0016) were significant for G870A.

Traits studied:Esophageal squamous cell carcinoma
PubMedDOIMetascience Observatory
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Cyclin D1 splice variant and risk for non-Hodgkin lymphoma
AssociationN=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).

Traits studied:B-cell lymphomaDiffuse large B-cell lymphomaFollicular lymphomaMarginal zone lymphomaNon-Hodgkin lymphomaSmall lymphocytic lymphomaT-cell lymphoma
PubMedDOIMetascience Observatory

About CCND1

The protein encoded by this gene belongs to the highly conserved cyclin family, whose members are characterized by a dramatic periodicity in protein abundance throughout the cell cycle. Cyclins function as regulators of CDK kinases. Different cyclins exhibit distinct expression and degradation patterns which contribute to the temporal coordination of each mitotic event. This cyclin forms a complex with and functions as a regulatory subunit of CDK4 or CDK6, whose activity is required for cell cycle G1/S transition. This protein has been shown to interact with tumor suppressor protein Rb and the expression of this gene is regulated positively by Rb. Mutations, amplification and overexpression of this gene, which alters cell cycle progression, are observed frequently in a variety of human cancers. [provided by RefSeq, Dec 2019]

View all CCND1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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