Association ofMUC1 5640G>A and PSCA 5057C>T polymorphisms with the Risk of Gastric Cancer in Northern Iran

Abstract

Background: Gastric cancer is the fourth most common cancer worldwide and the second leading cause of cancer-related death. Genome-Wide Association Studies (GWAS) have shown that genetic diversities MUC1(Mucin 1) and PSCA(Prostate Stem Cell Antigen) genes are involved in gastric cancer. The aim of this study was to determine the association between rs4072037G>A polymorphism in MUC1 and rs2294008 C>T in PSCA gene with gastric cancer in northern Iran. Methods: DNA was extracted from 99 formalin fixed paraffin-embedded (FFPE) tissue samples of gastric cancer and 96 blood samples from healthy individuals (sex matched) as controls. DNA was extracted followed by PCR using specific primers. Two desired polymorphisms, 5640G>A and 5057C>T for MUC1and PSCA genes were genotyped using PCR-RFLP method.Results: The G allele at rs4072037 of MUC1 gene was associated with a significant decreased gastric cancer risk(OR= 0.507, 95% CI: 0.322–0.799, p=0.003).A significant decreased risk of gastric cancer was observed in people with either AG vs AA,AG+AA vs GG and AA+GG vs AG genotypes of MUC1 polymorphism (OR= 4.296, 95%CI: 1.190–15.517, p=0.026), (OR= 3.726, 95% CI:2.033–6.830, p=0.0001) and (OR= 0.223, 95% CI: 0.120-0.413, p=0.0001) respectively. Overall, no significant association was observed between the PSCA 5057C>T polymorphism and risk of gastric cancer in all genetic models. Conclusion: Results indicated that the MUC1 5640G>A polymorphism may have protective effect for gastric cancer and could be considered a potential molecular marker in gastric cancer in the Northern Iran population.