Association of the - 160 C → A promoter polymorphism of E-cadherin gene with gastric carcinoma risk

BACKGROUND. A - 160 C → A polymorphism in the promoter region of E-cadherin has been shown to decrease gene transcription. This allelic variation might be a potential genetic marker for identifying individuals at risk for cancer. There remains no report regarding the polymorphism of E-cadherin in gastric carcinoma (GC). METHODS. A hospital-based case-control study, including 201 GC cases and 196 unaffected controls, was performed. DNA from peripheral blood samples was examined by polymerase chain reaction-restriction fragment length polymorphism. Logistic regression analyses were used to compute odds ratio (OR) and 95% confidence interval (CI) after adjusted for Helicobacter pylori infection, smoking, and other relevant factors. RESULTS. In 196 healthy Taiwanese, the distribution of genotype C/C was 42.3%, C/A was 48.0%, and A/A was 9.7%. The frequency of variant A/A genotype in GC case (4 of 201, 2%) was significantly lower than that of controls (19 of 196, 9.7%) (P < 0.005), conferring a 5-fold decrease in the risk of GC (OR, 0.20; 95% CI, 0.06-0.56) compared with the C/C genotype. Stratification of the GC cases according to their location (cardia and noncardia), histology (intestinal and diffuse), tumor stage (early and advanced), and lymph node metastasis (positive and negative) failed to reveal any heterogeneity with respect to E-cadherin genotype. CONCLUSIONS. The authors' data suggest that individuals with E-cadherin - 160 A/A genotype have a decreased risk of GC. Further work is mandatory to clarify the functional relevance of the A allele in viva and to confirm the inverse association of the A/A genotype with GC in large epidemiologic studies. ? 2002 American Cancer Society.