E-cadherin gene polymorphisms and haplotype associated with the occurrence of epithelial ovarian cancer in Chinese

Abstract

Backgrounds and aims E-cadherin plays an important role in the origin of epithelial ovarian cancer. However, the exact molecular mechanism by which this occurs is unknown. The polymorphisms located at the E-cadherin may contribute to an increased risk for certain cancers. In this paper, we studied the association between polymorphisms of E-cadherin and the risk of epithelial ovarian cancer. Methods We assessed the − 160C/A, − 347G/GA polymorphism within the promoter region and 3′-UTR + 54C/T polymorphism of E-cadherin in epithelial ovarian cancer and control women. We also tested the expression of E-cadherin protein in ovarian cancer tissue among three genotype (3′-UTR + 54C/T polymorphism) carriers. Results There was no significant difference in genotype distribution of the − 160C/A and − 347G/GA SNPs in the E-cadherin gene promoter region between ovarian cancer patients and controls, but haplotype − 160A/− 347GA relative to haplotype − 160C/− 347G was 48.6 (95% CI = 2.9–806.2) for epithelial ovarian cancer risk. The C/C genotype of the 3′-UTR + 54C/T polymorphism relative to the C/T + T/T genotype was 1.85 (95% CI = 1.27–2.69) for epithelial ovarian cancer risk. E-cadherin protein expression in was lower in C/C genotype carriers than T allele carriers in ovarian cancer tissue ( P = 0.02). Conclusions The C/C genotype of 3′-UTR C/T SNP and − 160C/− 374GA haplotype in E-cadherin gene may be a potential susceptibility factor for risk of epithelial ovarian cancer in Chinese, which indicated that the lower expression of E-cadherin might play an important role in the pathogenesis of epithelial ovarian cancer.