Analysis of polymorphic variants genes ESR1 и PGR in women with miscarriage

Abstract

Miscarriage is a multifactorial disease, the development of which is caused by the interaction of many factors, including genetic ones, among which special attention is paid to polymorphic variants of sex hormone receptor genes (ESR1, PGR). The data of a number of scientific papers on the association of single nucleotide polymorphisms rs9340799 and rs2234693 of the ESR1 gene and rs10895068 of the PGR gene with the risk of miscarriage in women are ambiguous, which is probably due to population characteristics of the frequency distribution alleles and genotypes of the indicated SNPs. The data of our study are aimed at studying the role of rs9340799 and rs2234693 of the ESR1 gene and rs10895068 of the PGR gene in the development of miscarriage in women living in the city of Chelyabinsk and the Chelyabinsk region. The material for the study was DNA samples isolated from peripheral venous blood leukocytes. The analysis of single nucleotide gene polymorphisms was carried out by real-time PCR. It was found that the C allele and the C/C genotype rs2234693 of the ESR1 gene is significantly more often registered in the group of women with a history of up to 2 abortions, as well as in the group of apparently healthy women without a burdened obstetric and gynecological history. Based on the data obtained, it can be assumed that the C allele and the C/C genotype rs2234693 of the ESR1 gene have a probable protective effect on the risk of recurrent miscarriage.