Gene-environmental interactions between CYP2C19 polymorphisms, diet pattern, and physical activity on the risk of endometriosis.

Introduction:Endometriosis etiology is still unclear. However, family aggregation and environmental factors such as diet physical activity have been associated with the disease. CYP2C19 polymorphisms, an estrogen-catabolic gene, have been associated with estrogen-dependent neoplasia and could also be associated to endometriosis. To evaluate the interaction between CYP2C19 polymorphisms (*2 and *17) and diet pattern, physical activity, and alcohol consumption and on the risk of endometriosis.Methods:A case-only study was performed on 155 women diagnosed with endometriosis in three federal hospitals in Rio de Janeiro, Brazil. A validated Food Frequency Scale was applied, information on physical activities was extracted, and a peripheral blood samples were obtained from women included in the study. CYP2C19 polymorphisms genotyping was proceeded using real-time PCR.Results:Mean age at diagnosis was 31.23 years; 45.3% had college degree; 73.2% was married and 56.3% had overweight and obesity. Mean age at menarche was 12 years; 50.7% regular menstrual cycles; 59.3% increased menstrual bleeding; 54.8% infertility; 64% deep infiltrating endometriosis; 94.7% dysmenorrhea; 73.5% pelvic pain; 62.3% dyspareunia and 49.3% intestinal cyclical change. Frequency of CYP2C19*1/*2 or *2/*2 was 26.7%, *1/*17 or *17/*17 was 21.2%, *2/*17 was 4.8% and *1/*1 was 47.3%. CYP2C19*1/*17 and *17/*17 genotypes, defined as ultra-rapid metabolizers, interact with healthy diet pattern (ORinteraction=0,6;IC95%:0.36–0.97) and physical activities (ORinteraction=0,3;IC95%:0.11–0.70), while CYP2C19*1/*2 and *2/*2 genotypes, defined as intermediate and poor metabolizers, interact significantly with alcohol consumption (ORinteraction=3,1 IC 95% 1.15 – 8.32) on the risk of endometriosis. Conclusion: CYP2C19 polymorphisms seem to interact significantly with healthy diet pattern, physical activity, and alcohol consumption, modulating the risk of developing endometriosis in a Brazilian sample of women.