Efeito dos polimorfismos PTGS2 -1195A>G e +8473 T>C no desenvolvimento da endometriose

Endometriosis is an inflammatory gynecological disease that affects 10% of women in reproductive age, causing pain symptoms that may compromise their quality of life. The patho-genesis of endometriosis is not fully understood, but it is known that inflammation plays an im-portant role, mostly via the cyclooxygenase-2 (COX-2) enzyme, which is overexpressed in en-dometriotic lesions. COX-2 is encoded by the prostaglandin-endoperoxidase synthase 2 gene (PTGS2) and two polymorphisms (PTGS2 -1195 A>G and +8473 T>C) stand out for decrease or increase gene expression, respectively, and the high frequency in the Brazilian population. This study aimed to evaluate the potential role of PTGS2 -1195 A>G and +8473 T>C SNPs in the development of endometriosis and its association with the prognostic characteristics of the disease. Patients diagnosed with endometriosis by surgery or magnetic resonance imaging (N = 254) and women without evidence of the disease/controls (N = 267) were recruited from two reference hospitals in the public health system in Rio de Janeiro, in specialized clinics for the treatment of endometriosis. Peripheral blood (3 mL) was collected from all participants and used for DNA extraction for genotyping analyzes of PTGS2 polymorphisms (-1195A>G and +8473T>C). Individual genotypes were identified using TaqMan allelic discrimination assays. The association between the polymorphisms and endometriosis features was assessed by multi-variate logistic regression, using adjusted odds ratios (OR) with their respective 95% confidence intervals (95% CI). There were significant differences between cases and controls in relation to age (P G was statistically different between cases and controls (P = 0.04), suggesting a lower risk of developing the disease for women with the -1195GG genotype (OR = 0.19; 95% CI = 0.04 - 0.93). There were no significant differences in relation to the PTGS2 SNPs and the prognostic characteristics of the disease. In conclusion, the PTGS2 -1195 A>G SNP seems to affect the development of endometriosis, which can contribute to a better understanding of the pathogenesis of the disease and possibly assist in guiding the individualized treatment of women with endometriosis.