Search citation statements
Paper Sections
Citation Types
Year Published
Publication Types
Relationship
Authors
Journals
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.
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.
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.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.
hi@scite.ai
10624 S. Eastern Ave., Ste. A-614
Henderson, NV 89052, USA
Copyright © 2024 scite LLC. All rights reserved.
Made with 💙 for researchers
Part of the Research Solutions Family.