Effects of E-cadherin (CDH1) gene promoter polymorphisms on the risk and clinicopathological development of hepatocellular carcinoma

Background and Objectives Hepatocellular carcinoma (HCC) is one of the most frequent malignant neoplasms worldwide, and is the second leading cause of cancer death in Taiwan. E-cadherin is an epithelial cell adhesion molecule, and decreased E-cadherin expression in HCC is associated with a poor prognosis. This study investigates the effects of single nucleotide polymorphisms (SNPs) in the E-cadherin/CDH1 gene promoter on the risk and clinicopathological characteristics of HCC Methods 131 HCC patients and 347 controls were recruited for this study. Genetic polymorphisms of CDH1-160 and-347 were analyzed by PCR-RFLP genotyping analysis. Results After adjusting for other confounders, results show that individuals with the CDH1-347G/GA or GA/GA polymorphic genotypes had a significantly higher risk of developing HCC than those with the wild-type (G/G) genotype (adjusted odds ratio=2.477; 95%CI: 1.421-4.319). Furthermore, patients with HCC with at least one mutant A allele of CDH1-160 had a 4.031-fold risk of progressing to stage III or IV. Conclusions This study shows that SNPs in CDH1-347 gene are associated with an increased risk of HCC, and at least one mutant A allele of CDH1-160 gene is associated with the development of stage III or IV of HCC in Taiwanese.