Association of MUC1 5 640G>A and PSCA 5057 C>T polymorphisms with the risk of gastric cancer in Northern Iran

Background Gastric cancer is one of the four most common cancer that causing death worldwide. Genome-Wide Association Studies (GWAS) have shown that genetic diversitiesMUC1(Mucin 1) andPSCA(Prostate Stem Cell Antigen) genes are involved in gastric cancer. The aim of this study was avaluating the association of rs4072037G > A polymorphism inMUC1and rs2294008 C > T inPSCAgene with risk of gastric cancer in northern Iran. Methods DNA was extracted from 99 formalin fixed paraffin-embedded (FFPE) tissue samples of gastric cancer and 96 peripheral blood samples from healthy individuals (sex matched) as controls. Two desired polymorphisms, 5640G > A and 5057C > T forMUC1andPSCAgenes were genotyped using PCR-RFLP method. Results The G allele at rs4072037 ofMUC1gene 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 ofMUC1polymorphism (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. Finally, there was no significant association between the PSCA 5057C > T polymorphism and risk of gastric cancer in all genetic models. Conclusion Results indicated that theMUC15640G > A polymorphism may have protective effect for gastric cancer in the Northern Iran population and could be considered as a potential molecular marker in gastric cancer.