Gene-environment interaction involved in oral carcinogenesis: molecular epidemiological study for metabolic and DNA repair gene polymorphisms

Background: Exposure to environmental carcinogens leads to oral squamous cell carcinoma (OSCC); however, the impact of genetic variations in carcinogen metabolisms and DNA repair on OSCC risk considering environmental exposures has not been clearly elucidated. Methods: We conducted a case–control study with 122 cases and 241 controls. The risk of OSCC was evaluated in 10 genetic polymorphisms of nine genes, such as CYP1A1, CYP2E1, GSTM1, GSTT1, XPA, XPC, XPC, XPF and ERCC1. Gene–environment interaction was also evaluated. Results: We found that CYP2E1 and XPA polymorphisms significantly affected the OSCC risk. Gene–environment interactions with smoking were significant for CYP2E1 and ERCC1 polymorphisms. Odds ratios for gene–environment interaction were 7.98 (P = 0.036), 9.67 (P = 0.017) and 8.49 (P = 0.031) for CYP2E1RsaI, DraI and ERCC1 polymorphisms, respectively. No interaction was observed with heavy drinking and any polymorphisms. Conclusion: CYP2E1, XPA and ERCC1 polymorphisms may affect the risk of OSCC.