Involvement of estrogen and progesterone receptor gene polymorphisms in the development of uterine fibroids

Objective. To study the associations of polymorphic variants in the progesterone and estrogen receptor genes with the development of isolated uterine fibroids. Subjects and methods. Examinations were made in 977 females: 188 women with isolated uterine fibroids in the study group and 789 women in the control one. Five polymorphic loci of the estrogen and progesterone receptor genes: РGR c.1415-11113G> Т rs1042838, РGR c.*38Т> С rs484389, ESR1 c.*1029Т> С rs3798577, ESR1 c.453-397Т>С rs2234693, and ESR1 c. 453-351A>G rs9340799 were selected for the investigation. The latter was conducted using polymerase chain reaction on a CFX-96 Real-Time System thermal cycler. Results. There were associations of the polymorphic loci of РGR c.1415-11113G> Т rs1042838, ESR1 c.*1029Т> С rs3798577, ESR1 c.453-397Т> С rs2234693, and ESR1 c.453-351А> G rs9340799 with the formation of uterine fibroids. The risk factor for the development of isolated uterine fibroids is the A allele of ESR1 rs9340799 (OR = 1.35; p = 0.006). The higher genetic risk factors for uterine fibroids are a combination of the T allele of ESR1 rs3798577, the T allele of ESR1 rs2234693, and the A allele of ESR1 rs9340799 (OR = 1.60; p = 0.003). The combination of the G alleles of РGR rs1042838, the С allele of ESR1 rs2234693, and the G allele of ESR1 rs9340799 (OR = 0.64; p = 0.008) is of protecting value for developing uterine fibroids. Conclusion. The polymorphic loci of the genes PGR c.1415-11113G> Т rs1042838, ESR1 c.*1029Т> С rs3798577, ESR1 c.453-397Т> С rs2234693, and ESR1 c.453-351А> G rs9340799 are associated with the development of isolated uterine fibroids. © 2020, Bionika Media Ltd.. All rights reserved.