E-cadherin is a tumor suppressor protein that plays a crucial role in cell-cell adherens junction and tissue architecture and it is hypothesized to participate in carcinogenesis. It has been shown that a polymorphism in the upstream of the transcription start site of the CDH1 gene affects E-cadherin transcriptional regulation and seems to be associated with a variety of cancers. For the first time, we investigated the association of the rs16260 in the 5'-untranslated region of the CDH1 gene with gastric cancer in Iranian population. Seventy- eight patients with gastric cancer and 72 healthy individuals were included and genotyped for this SNP using PCR-RFLP method. Our results showed that the frequency of the AA genotype in gastric cancer patients (16 of 78, 20.5%) was higher than healthy individuals (9 of 72, 12.5%), the frequency of the A allele in the patients group was higher than controls (OR=1.231, 95% CI= 0.772-1.962, pvalue= 0.383), but statistical analysis revealed the absence of association between AA genotype and gastric cancer risk (OR=1.719, 95% CI= 0.656-4.502, p-value= 0.268). In conclusion, our results suggest that this substitution and the AA genotype have not a major impact on the individual’s susceptibility to gastric cancer, and therefore this SNP may be an ethnicity-dependent risk factor. Further works with a larger sample size and including other criteria such as H. pylori infection status are needed for more accuracy.
