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 HSD17 β1 gene is not associated with endometriosis in Brazilian patients.