Abstract
Study Objective: To identify the role of estrogen (ESR1) and progesterone (PRG) receptor genes in benign mammary dysplasia (BMD) in women of reproductive age with endometrial hyperplasia (EH). Study Design: prospective controlled cohort study. Materials and Methods. We examined 105 women aged 18 to 49 years old who were divided into three groups: group I — 36 BMD patients; group II — 27 women with EH without atypia; and group III — 42 BMD patients with EH without atypia. Patients with mammary disorders were divided into subgroups of diffuse and nodal BMD. We studied polymorphism of estrogen (ESR1) and progesterone (PRG) receptor genes and the ratio of their isoforms in blood serum. ESR1 and PRG gene polymorphism was analysed using polymerase chain reaction with fluorescent genotyping detection with TaqMan probes. Study Results. In PvuII C/T polymorphism of ESR1 gene there were significant differences between women with diffuse and nodal BMD in СС allele (p = 0.014), but not between study groups. Analysis of the rate of Xbal A/G alleles of ESR1 gene revealed significant differences between group I and group III in GG allele (p = 0.015), while there were no differences between women with diffuse and nodal BMD. The rate of polymorphism in Val660Leu and +331G/A alleles of PRG gene was not statistically significant in study groups; also, there were no statistically significant differences in diffuse and nodal BMD. Conclusion. Combined hyperplastic processes in endometrium and mammary glands depend on the specificity in the polymorphism system of estrogen and progesteron receptor genes. Associations between various combinations of susceptibility genes demonstrate the presence of specificity for each clinical and pathogenic variant of BMD (diffuse or local forms). Keywords: benign mammary dysplasia; endometrium hyperplasia; estrogen receptors; progesterone receptors; ESR1, PRG gene polymorphism
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