A interação de polimorfismos no gene CYP2C19 com fatores epidemiológicos e clínicos em mulheres diagnosticadas com endometriose na cidade do Rio de Janeiro, Brasil

Endometriosis is a public health problem in Brazil and worldwide, affecting women between 15-45 years. It is an inflammatory estrogen dependent disease characterized by the of endometrial tissue outside the uterine location however, the etiology is still not defined. The family history of the disease has been associated with risk of endometriosis suggesting the influence of genetic factors that interact with environmental factors, could modulate the risk of developing endometriosis. In this context, study polymorphisms in the CYP2C19gene, which operates in estrogen catabolism, and their interaction with environmental factors could explain, in part, the susceptibility to the development of endometriosis. The objective of this study was to evaluate the effect of interaction between selected environmental factors and polymorphisms in the CYP2C19gene (*2and *17), in a series of cases of endometriosis. Methodology: An exploratory observational study of a group of cases, using a case-only approach was performed and 155 women diagnosed with endometriosis were classified to presence and absence of a genetic factor and an environmental factor. Then, to evaluate the interaction between the combination of the polymorphisms CYP2C19and environmental factors gene was estimated odds ratio (OR) and their interaction CI: 95%. Results: The average age of diagnosis was 31.23 years; 45.3% had college or graduate; 73.2% married and 56.3% overweight and obesity. The average age of menarche was 12.46 years; 50.7% regular menstrual cycles; 59.3% increased menstrual bleeding; 54.8% infertility; 64% deep infiltrating endometriosis (DIE); 94.7% dysmenorrhea; 73.5% pelvic pain; 62.3% dyspareunia and 49.3% intestinal cyclical change. The frequency of CYP2C19*1/*2or *2/*2was 26.7%, *1/*17or *17/*17was 21.2%, *2/*17was 4.8% and *1/*1was 47.3%. The genotype CYP2C19*1/*2and *2/*2, defined as intermediate and poor metabolizers, respectively, interact positively with factors such as early menarche (OR=2,54 IC 95% 1.11 –5.82) and the habit of consuming alcohol (OR=3,09 IC 95% 1.15 –8.32). The genotype CYP2C19*1/*17 and *17/*17defined as ultra-rapid metabolizers negatively interact with the physical exercise (OR=0,28 IC 95% 0.11 –0.70) or have a healthy eating score (OR=0,59 IC 95% 0.36 –0.97). In conclusion, our study suggests an important interaction between CYP2C19and some selected environmental factors on the risk of endometriosis. CYP2C19*2interacts with early menarche and alcohol consumption, increasing the risk of endometriosis. CYP2C19*17interacts with the pattern of healthy consumption and the physical activity. This study may contribute to understanding the etiology of endometriosis and contribute to delineate possible public health interventions on modifiable environmental factors that may interact with the CYP2C19and modulate the risk of developing endometriosis in the Brazilian population.