Association of cyclin D1 gene polymorphisms with risk of esophageal squamous cell carcinoma in Kashmir valley—a high risk area

Abstract

Investigation of potential association of SNPs (G870A, rs9344; G1722C, rs678653) of cyclin D1 gene (CCND1) with susceptibility to esophageal squamous cell carcinoma (ESCC) in Kashmir valley (India). The study included 302 subjects comprising 151 ESCC cases and 151 controls. PCR-RFLP and direct sequencing were employed for genotyping. The G870A polymorphism, the individuals carrying GA+AA genotype was having 2.80-fold increased risk for development of ESCC (OR 2.8, 95% CI=1.77-4.4; P=0.0001) compared to GG genotype. Further a significantly higher risk was observed in individuals who consume >3 cups per day of salted tea (OR=5.1; 95% CI=1.6-16.7; P=0.0016) and had smoking habits (OR=6.3; 95% CI=2.9-13.9; P=0.0005). We also demonstrate for the first time in CCND1 1722 locus, the CC genotype was strongly associated with increased risk of developing ESCC (OR=2.58; 95% CI=1.61-4.15; P=0.0001). In addition, the frequency of polymorphic C allele was also found to be higher in cases (OR=1.92; 95% CI=1.37-2.69; P=0.0002). There appears to be an influence of CCND1 G870A/G1772C genotypes on genetic susceptibility to ESCC. Mol. Carcinog.