ABSTRACT. The aim of this study was to verify the association between the epidermal growth factor (EGF) +61 G/A polymorphism and the susceptibility to endometriosis using a case-control design study. The control group included fertile women without endometriosis and the case group included endometriosis patients. Polymerase chain reaction-restriction fragment length polymorphism analysis was used to genotype the EGF +61 G/A polymorphism. Initially, a total of 184 individuals were analyzed. After matching by ethnicity, the control group was composed of 57 individuals, while the endometriosis group was composed of 57 patients. No statistically significant associations were observed between EGF +61 variants and the risk of endometriosis development (P > 0.05). This is the first study correlating the EFG

Purpose The aim of this study was to determine whether a polymorphism of the HSD17β1 gene (rs605059), involved in estrogen synthesis, is associated with endometriosis in Brazilian patients. Methods A case-control study was conducted in 231 women. All patients in the case group had a histopathological diagnosis of endometriosis. Genomic DNA was genotyped by nested-PCR, followed by digestion of the PCR product with the enzyme BstUI. Results The frequencies of the genotypes detected in the case and control groups were 22.4% GG, 52.2% AG and 25.4% AA; and 31.3% GG, 49.3% AG and 19.4% AA, respectively, with no significant difference between groups. The prevalence of the G allele was 48.5% and 56% in the case and control groups, respectively. No significant difference in genotype or allele frequency was detected between the different stages of endometriosis (p>0.05). Conclusions The results suggested that the Ser312Gly polymorphism of the HSD17β1 gene is not associated with endometriosis in Brazilian patients.