Analysis of the association between the polymorphic variants of estrogen and progesterone receptor genes and genital endometriosis

Aim. To study association between the genetic polymorphism in the estrogen and progesterone receptor genes and genital endometriosis. Materials and methods. The study involved 894 women: 105 women with genital endometriosis and 789 women in the control group. The polymorphic loci of the estrogen and progesterone receptor genes were selected for the study: ЕSR1 с.453-397Т>С rs2234693, ЕSR1 c.1029Т>С rs3798577, ЕSR1с.453-351А>G rs9340799, РGR c.38Т>С rs484389, РGR c.1415-11113G>Т rs1042838. CFX96 Touch Real-Time PCR System was used for analysis. To calculate the associations, the odds ratio (OR) and 95% confidence interval (CI) was used. Results. The associations between molecular genetic markers ЕSR1 с.453-397Т>С rs2234693, ЕSR1 c.1029Т>С rs3798577, ЕSR1с.453-351А>G rs9340799 and development of genital endometriosis were found. A combination of ESR1 А rs9340799, ESR1 Т rs2234693 and ESR1 Т rs3798577alleles (OR=1.86, р=0.003) were found to be a risk factor for the development of genital endometriosis, and a combination of ESR1 rs9340799 G alleles and ESR1 rs3798577 CC genotype (OR=0.33, р=0.003) appeared to prevent the development of the disease. No associations between polymorphic loci of РGR c.38Т>С rs484389 and РGR c.1415-11113G>Т rs1042838 and genital endometriosis were found. Conclusion. Polymorphic loci of ЕSR1 с.453-397Т>С rs2234693, ЕSR1 c.1029Т>С rs3798577, ЕSR1с.453-351А>G rs9340799 were associated with development of genital endometriosis. ©A group of authors, 2021.