Objective: To investigate the interaction of polymorphisms of PPAR-γ2 gene -C34G and NADPH oxidase subunit p22phox gene -C242T with helicobacter pylori (H. pylori) infection in esophageal squamous cell carcinoma (ESCC) .

Methods: A total of 200 cases of LSCC of Broder grade I, 200 of Broder grade II and of grade III were enrolled in this study with 200 healthy individuals as the control group. The genetic polymorphisms of PPAR-γ2 gene -C34G and NADPH oxidase subunit p22phox gene -C242T were analyzed using PCR-RFLP in peripheral blood leukocytes. C-urea breath test (C-UBT) was used to test C disntegration per minute (DPM) for evaluating the infection status of H. pylori. An unconditional logistic regression model was used to analyze the interaction of nucleotide polymorphisms and H. pylori infection.

Results: The risk of ESCC significantly increased in subjects with -C34G (CG), -C34G(GG), -C242T (CT), and -C242T (TT) genotypes. Combined analysis of the polymorphisms showed that the subjects carrying -C34G (GG)/ -C242T (TT) had a high risk of ESCC, and a positive interaction was found between -C34G (GG) and -C242T (TT) in increasing the risk of ESCC. Positive interactions in the pathogenesis of ESCC were also found between -C34G (CG) and -C242T (TT), between -C34G (CG) and -C242T (CT), and between -C34G (GG) and -C242T (CT) (γ>1). The risk of ESCC significantly increased in subjects with H. pylori infection, which showed positive interactions with -C34G (CG), -C34G (GG), -C242T (CT) and -C242T (TT) in increasing the risk of ESCC (γ>1).

Conclusion: Individuals carrying -C34G(CG), -C34G(GG), -C242T (CT) and -C242T (TT) genotypes have a high risk of developing ESCC, and these genotypes interact with H. pylori infection in the pathogenesis of LSCC, suggesting the importance of eradicating H. pylori for prevention of ESCC.

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