Newborn weight is associated with the maternal F13A1 gene rs5985 polymorphism

• Published in: Акушерство, гинекология и репродукция Vol. 15; no. 3; pp. 236 - 244
• Main Authors: Golovchenko, O. V., Abramova, M. Yu, Ponomarenko, I. V., Churnosov, M. I.
• Format: Journal Article
• Language: English; Russian
• Published: IRBIS LLC 09.07.2021
• Subjects: associations; f13a1 gene; fetal growth retardation; newborn weight; preeclampsia; single-nucleotide polymorphism
• ISSN: 2313-7347; 2500-3194
• DOI: 10.17749/2313-7347/ob.gyn.rep.2021.189

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; p perm = 0.05) and additive (â = 155.20; p perm = 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.