Roles Of SNP Rs4072037 In The MUC1 Gene In Helicobacter Pylori Infection And Gastric Cancer Risk

Objective To investigate the roles of SNP rs4072037 in the MUC1 gene in Helicobacter pylori (H. pylori) infection and gastric cancer risk by case-control association study. Method SNP rs4072037 was genotyped by sequence specific primers - polymerase chain reaction (PCR-SSPs) among 272 cases with gastric cancer and 376 matched normal controls. H. pylori infection was detected by ELISA in normal cantrols. And data were analyzed by unconditional logistic regression to evaluate the association of SNP rs4072037 with H. pylori infection, as well as gastric cancer. Results (1)In normal controls, the rate of H. pylori infection was 85.0%. For rs4072037 locus, the GG, AG, and AA genotype frequencies in controls were 27.4% (103/376), 51.6% (194/376), and 21% (79/376), respectively. SNP rs4072037 was not associated with H. pylori infection.(2)The genotype distributions of SNP rs4072037 followed Hardy-Weinberg equilibrium in normal controls (P> 0.05). And the GG, AG, and AA genotype frequencies in cases were 20.6 %(56/272), 44.5%(121/272), and 34.9% (95/272), respectively. SNP rs4072037 showed a statisticlly significant association with an increased risk of gastric cancer, the carriers of AA genotype had a higher risk for the disease ((OR=2.20,95% CI=1.41-3.44).Conclusions The AA homozygotes of SNP rs4072037 in the MUC1 gene are involved in gastric cancer risk. However, our study suggests that the SNP rs4072037 is not associated with H. pylori infection, that is, the effect of SNP rs4072037 on gastric cancer risk might not be mediated through H. pylori infection. Further studies are needed to confirm our results.