Abstract
Aim. The study is aimed at the evaluation of the association of IL6 gene -174G/C polymorphism and ESR1 gene -397C/T polymorphism with recurrent pregnancy loss (RPL) pathogenesis and at the investigation of the ESR1 gene -397C/T variant regulatory significance for the IL6 gene function. Methods. A case group of 75 women with RPL history and a control group of 106 unrelated healthy women, who have given birth to at least one child conceived in natural way, were genotyped by a PCR based restriction fragment length polymorphism assay. Results. There was no significant difference in IL6 -174G/C or ESR1 -397C/T genotype and allele frequencies between the case and control groups. Combined genotype distribution analysis showed significantly (p < 0.05) lower frequency of individuals homozygous for both IL6 -174G and ESR1 -397C alleles in case group (0.026) comparing to control (0.094). Conclusions. Genotype comprising IL6 -174G and ESR1 -397C alleles in homozygous state may be considered as a genetic marker of successful pregnancy maintenance during gestation early stages.
Highlights
Recurrent pregnancy loss (RPL) is the occurrence of three or more consecutive miscarriages in the first trimester of gestation
Taking into account a functional significance of mentioned polymorphic variants, which change the respective genes expression, we focused our study on the evaluation of association of the latter with RPL pathogenesis
The results of genotyping for both studied polymorphic variants are presented in Table. Both Interleukin 6 (IL6) gene -174 G/C and ESR1 gene -397 C/T genotype frequencies showed no significant deviation from those expected according to Hardy-Weinberg equilibrium
Summary
Recurrent pregnancy loss (RPL) is the occurrence of three or more consecutive miscarriages in the first trimester of gestation. An estrogen receptor a is a common part of the estrogen-estrogen receptor complex in gestational tissues [12] This protein is encoded by ESR1 gene located in 6q25.1 region and consisting of 8 exons [13]. In a lot of studies more than 4 thousand SNPs in ESR1gene have been identified [14] including 1 intron -397C/T variant which is proven to affect the protein expression [15]. This polymorphic variant has shown the association with a number of reproductive pathologies, including endometriosis [16], and impaired ovarian reserve [17]. We intended to investigate probable regulatory significance of ESR1 gene -397 C/T polymorphism for the IL6 gene function
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