Molecular-genetic and epigenetic aspects of impaired endometrial receptivity in women with low birth weight

Melkozerova, Melkozerova O.A.; Башмакова, Н. В.; Tretyakova, T. B.; Щедрина, И. Д.

doi:10.20953/1726-1678-2019-4-35-43

Cited by 3 publications

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“…Thirdly, children with low birth weight have an increased risk of developing various diseases (cardiovascular, dyslipidemia, metabolic syndrome, etc.) in adulthood [4,5].…”

Section: Introductionmentioning

confidence: 99%

Locus rs833061 of the VEGF Gene in Pregnant Women with Preeclampsia Is Associated with Newborn Weight

et al. 2021

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We studied the associations of newborn weight with polymorphic loci of growth factor genes in pregnant women with preeclampsia (PE) and considered their regulatory potential. In the group of pregnant women with PE (n = 190), a molecular genetic study of five polymorphic loci of growth factor genes was performed: rs4444903 EGF, rs833061 VEGFA, rs2981582 FGFR2, rs6214 IGF1, rs1800469 TGFβ1. Newborn somatometry was performed using standard methods. Associations of the studied polymorphic loci with newborn weight were studied using log-linear regression analysis. It was found that the genetic risk factor for the birth of small children in pregnant women with PE is the allele C of the rs833061 polymorphism of the VEGFA gene (p perm = 0.002): women with the T/T genotype have the highest newborn weight (on average 3524 g), while women with the C/C genotype have the minimum newborn weight (on average 3415 g). It is shown that the allele C of polymorphic locus rs833061 is associated with low transcription of the VEGFA gene in the thyroid gland and a higher level of alternative splicing of the VEGFA gene transcript in skeletal muscle, increases the affinity of DNA for transcription factors BCL, Pax-5, and Znf143, and affects the interaction of DNA with more than 20 different regulatory proteins (CTCF, RAD21, ZNF263, MAX, etc.). It is revealed that polymorphism rs833061of the VEGF gene in pregnant women with PE is associated with weight of the newborn and has considerable regulatory potential.

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“…Thirdly, children with low birth weight have an increased risk of developing various diseases (cardiovascular, dyslipidemia, metabolic syndrome, etc.) in adulthood [4,5].…”

Section: Introductionmentioning

confidence: 99%

Locus rs833061 of the VEGF Gene in Pregnant Women with Preeclampsia Is Associated with Newborn Weight

et al. 2021

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Polymorphic loci of the <i>ESR1<i/> gene are associated with the risk of developing preeclampsia with fetal growth retardation

Головченко

Abramova

Ponomarenko

et al. 2021

Akušerstvo, ginekologiâ i reprodukciâ

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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.

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Newborn weight is associated with the maternal F13A1 gene rs5985 polymorphism

Головченко

Abramova

Ponomarenko

et al. 2021

Akušerstvo, ginekologiâ i reprodukciâ

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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.

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Molecular-genetic and epigenetic aspects of impaired endometrial receptivity in women with low birth weight

Cited by 3 publications

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Locus rs833061 of the VEGF Gene in Pregnant Women with Preeclampsia Is Associated with Newborn Weight

Locus rs833061 of the VEGF Gene in Pregnant Women with Preeclampsia Is Associated with Newborn Weight

Polymorphic loci of the <i>ESR1<i/> gene are associated with the risk of developing preeclampsia with fetal growth retardation

Newborn weight is associated with the maternal F13A1 gene rs5985 polymorphism

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