Molecular genetic determinants of pre-eclampsia
Background: Pre-eclampsia (PE) is still one of the most severe complications of pregnancy. Molecular genetic factors are involved in the formation of PE. The aim of the study: To study the involvement of rs3798577, rs2234693 and rs9340799 polymorphisms of the ESR1 gene in the development of preeclampsia. Materials and methods: The studied group consisted of 190 pregnant women with PE and 324 women with physiological pregnancy (control group). The clinical study and clinical laboratory examination of pregnant women were carried out at the time of delivery in the Perinatal Center of the St. Joasaph Regional Clinical Hospital, Belgorod. The polymorphic loci rs3798577, rs2234693 and rs9340799 of the ESR1 gene were genotyped using the polymerase chain reaction of DNA synthesis using the corresponding primers and probes labeled with fluorochromes. The study of associations of the studied genetic markers and their epistatic interactions with the development of PE was carried out by the method of logistic regression in the program PLINK V. 2.050. Results: The interaction of polymorphic variants of rs9340799 x rs3798577 of the ESR1 gene is protective for the development of preeclampsia (OR = 0.56, p = 0.004, pbonf = 0.012). These polymorphic loci and strongly coupled (r2≥0.8) with rs9340799 six SNPs have significant regulatory effects: they are in the region of more than 20 regulatory DNA motifs to transcription factors Foxa, Foxd1, Foxf2, Foxj1, Foxk, Foxo, HDAC2, Sox, TCF12, p300, etc., localized in DNA loci interacting with regulatory proteins (NRSF, SIN3AK20, TCF12), are located in the region of modified histones marking enhancers and promoters, the region of hypersensitivity to DNase 1 in more than 30 different cell cultures, tissues and organs pathogenetically significant for the development of PE. Conclusion: Epistatic interaction of polymorphic loci rs9340799 x rs3798577 of ESR1 gene is associated with the development of PE.
Golovchenko OV. Molecular genetic determinants of pre-eclampsia. Research Results in Biomedicine. 2019;5(4):139-149. (In Russian)
DOI: 10.18413/2658-6533-2019-5-4-0-11
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