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Aim: to evaluate a relationship between newborn weight and single-nucleotide polymorphisms rs5918 ITGB3, rs1126643 ITGA2, rs5985 F13A1 in pregnant women with preeclampsia (PE) and fetal growth retardation (FGR).Materials and Мethods. In this prospective comparative study, molecular genetic testing for the three polymorphic loci of hereditary thrombophilia candidate genes – rs1126643 ITGA2, rs5918 ITGB3, and rs5985 F13A1 was performed in 70 pregnant women with PE and FGR. Newborn somatometry was performed using standard methods. To assess functional effects of the rs5985 polymorphism of the F13A1 gene associated with newborn weight, we applied online bioinformatic programs GTEx Portal and HaploReg (assessing a relationship between polymorphism and level of gene transcription and related epigenetic effects).Results. The rs5985 polymorphism of the maternal F13A1 gene is associated with newborn weight according to allelic (â = 156.60; pperm = 0.05) and additive (â = 155.20; pperm = 0.05) genetic models. The polymorphic locus rs5985 of the F13A1 gene is characterized by pronounced pleiotropic regulatory effects in vivo: it determines the amino acid substitution in the A1 subunit of coagulation factor XIII (Val35Leu), associated with the activity of blood clotting factor XIII, localized in the DNase 1 hypersensitivity region, determines DNA affinity to 11 transcription factors (AP-2, CACD, EBF, ERalpha-a, ESR2, Hic1, Klf4, Klf7, SP1, ESR1 and TFAP2C), located in the region of modified histones, marking enhancers and promoters in the culture of ectoderm, endoderm and mesoderm cells, placenta, fetal brain and adrenal glands, progenitor cells and myoblasts in skeletal muscle, adipocytes, brain etc.Conclusion. The rs5985 polymorphism of the F13A1 gene in pregnant women with PE and FGR is associated with newborn weight.

Aim: to analyze the association of the ESR1 gene polymorphic loci rs2234693, rs9340799, and rs3798577 with developing preeclampsia (PE) with fetal growth retardation (FGR). Materials and Methods. The study was performed while analyzing a sample of 400 women: 76 pregnant women with PE and FGR and 324 with a physiological course of pregnancy. Three polymorphic loci of the ESR1 gene (rs2234693, rs9340799, and rs3798577) were genotyped. Functional effects of polymorphic loci were evaluated by using the online programs HaploReg (epigenetic effects) and GTEx Portal (relation to gene expression). Results. The development of PE and FGR is associated with the G allele and GG genotype rs9340799 of the ESR1 gene (OR = 1.38; pperm = 0.04 and OR = 2.00; pperm = 0.04, respectively), the T allele rs3798577 of the ESR1 gene (OR = 1.46; pperm = 0.01), and the TG haplotype of the polymorphic loci rs2234693–rs9340799 of the ESR1 gene (OR = 2.08; pperm = 0.009). Polymorphic locirs2234693, rs9340799 ESR1 gene and rs3798577 have an important functional significance in human body being located in the evolutionarily conserved DNA region, affect affinity of regulatory DNA motifs to the eight transcription factors as well as ESR1 gene expression in the thyroid gland, which are positioned in the promoter and enhancer region, DNAse 1 hypersensitivity motif within diverse organs and tissues, and display an important pathogenetic effect for development of PE and FGR. Conclusion. Polymorphic loci rs2234693, rs9340799 and rs3798577 of the ESR1 gene are associated with developing PE and FGR.

Aim: to analyze the association of polymorphic loci rs2234693, rs9340799, and rs3798577 of the ESR1 gene with the development of preeclampsia (PE) with fetal growth retardation (FGR) and to consider their regulatory potential.Materials and Methods. The present study was performed on a sample of 400 women: 76 pregnant women with PE and FGR and 324 with a physiological course of pregnancy. Three polymorphic loci of the ESR1 gene (rs2234693, rs9340799, and rs3798577) were genotyped. Functional effects of polymorphic loci were evaluated using the online programs HaploReg (epigenetic effects) and GTExportal (relation to gene expression).Results. The development of PE and FGR is associated with the G allele and GG genotype rs9340799 of the ESR1 gene (OR = 1.38; pperm = 0.04 and OR = 2.00, pperm = 0.04 respectively), the T allele rs3798577 of the ESR1 gene (OR = 1.46; pperm = 0.01), and the TG haplotype of the polymorphic loci rs2234693–rs9340799 of the ESR1 gene (OR = 2.08; pperm = 0.009). Polymorphic loci rs2234693, rs9340799 ESR1 gene and rs3798577 have important functional significance in the organism are evolutionary conservative region of DNA, affect affinnity regulatory DNA motifs by 8 transcription factors and gene expression ESR1 in the thyroid gland, located in the region of promoters and enhancers, the region of hypersensitivity to DNase 1 in various organs and tissues, has important pathogenetic importance for the development of PE and FGR.Conclusion. Polymorphic loci rs2234693, rs9340799 and rs3798577 of the ESR1 gene are associated with the development of PE and FGR.