Abstract
Objective. To determine the frequency of the estrogen receptor gene (ERβ) +1730 G/A polymorphism in Brazilian women with endometriosis. Design. Case-control study. Setting. Endometriosis Outpatient Clinic and Family Planning Outpatient Clinic of ABC Faculty of Medicine. Population. A total of 108 patients with endometriosis and a control group consisting of 210 fertile women. Methods. The ERβ gene +1730 G/A polymorphism was identified by restriction fragment length polymorphism-polymerase chain reaction. Main outcome measure(s). Genotype distribution and allele frequency of the +1730 G/A polymorphism in the ERβ gene. Results. Genotypes GG, GA and AA of the ERβ gene presented frequencies of 50.9%, 47.2% and 1.9%, respectively, in the women with endometriosis. Among the patients with stage I/II endometriosis, 47% presented the normal homozygous genotype GG; 51% had a GA heterozygous genotype and 2% had a homozygous mutated genotype AA. Among the patients with stage III/IV endometriosis, genotypes GG, GA and AA were present in 54.3%, 44% and 1.7%, respectively. In the control group, 74.3% presented the normal homozygous genotype GG, 24.3% the heterozygous genotype GA and 1.4% the homozygous mutated genotype AA. Conclusion. The data suggest that the ERβ gene +1730 G/A polymorphism can be associated with the risk of endometriosis development, regardless of the stage of the disease.
Acknowledgements
The authors thank Dr. Cristiane Gimenes for help in selecting the patients and Dr. Alexis Dourado Guedes for assistance with the statistical analysis. NEPAS (Study, Research and Health Assistance Nucleus of the ABC Faculty of Medicine) granted a Scientific Initiation scholarship for Ariel Brandes.
Declaration of interest: The authors declare no conflict of interest.