DNA hypomethylation of the nuclear receptor subfamily 5 (NR5A1) gene promoter is associated with endometriosis among women in north west of Iran

Background and objectives: Endometrial tissue growth and its activity outside the uterus cause endometriosis. It has been suggested that various epigenetic deviations play a major role in the pathogenesis of endometriosis. Steroidogenic factor 1 (SF-1; NR5A1) is an essential transcription factor for estrogen biosynthesis in endometrial cells. The expression of SF-1 in endometriosis and lack of expression in normal endometrium is primarily determined by its promoter methylation. Here, we aimed to compare the methylation status of the SF-1 gene promoter region in women with endometriosis in comparison to healthy subjects. Methods: In the present case–control study, DNA was extracted from 25 endometrial tissue samples from women with endometriosis and 5 normal post-hysterectomy endometrium tissues which were collected from Tabriz hospitals including Vali-e-Asr, Taleghani, 29 Bahman and Shams in 2016. The obtained DNA samples were subjected to Bisulfite-treatment. Finally, the status of SF-1gene promoter methylation was evaluated by methylation specific PCR method. Statistical analyses including descriptive and inferential statistics were conducted using tables, bar charts by statistical software SPSS version 20 and independence test. Results: The methylation status of SF-1 gene promoter was decreased significantly in endometriosis samples (P<0.05). Conclusion: SF-1 gene promoter hypomethylation could increase the relative expression of SF-1 gene in endometriosis which may lead to the development or progression of the disease.