Polymorphism of genes associated with the age at menarche and the risk of complications of pregnancy in women in the Central Black Earth Region of Russia
Background: The most common complications of pregnancy associated with metabolic and hemodynamic disorders in the mother-placenta-fetus system are placental insufficiency and preeclampsia. Preeclampsia is one of the leading causes of maternal and perinatal deaths. The aim of the study: To study the role of polymorphism of candidate genes for menarche with the risk of preeclampsia in women of the Central Black Earth region of Russia. Materials and methods: The sample for the study included 997 women: 366 pregnant women with preeclampsia and 631 women in the control group. For the study, polymorphic loci of genes associated with menarche (6 SNPs) were selected: luteinizing hormone / chorionic gonadotropin receptor (rs7579411 and rs4953616 LHCGR), follicle-stimulating hormone receptor (rs6732220 and rs4953654 FSHR) alpha estrogen receptor (rs3020394 and rs1884051 ESR1)). Genotyping of DNA samples was performed using the MALDI method and a MassARRAY Analyzer 4 mass spectrometer («Seqeunom», United States). Associations of SNPs of candidate genes with preeclampsia were assessed using logistic (log-linear) regression according to additive, recessive, and dominant models, adjusted for covariates. To assess the direction of associations of SNPs with preeclampsia, the odds ratio (OR) and its 95% confidence interval (95% CI) were used. Results: It was found that the G allele of rs3020394 ESR1 is associated with the development of preeclampsia in the recessive model (OR = 1.74, 95% Сl 1.06-2.85, p = 0.029). The identified associations of this SNP may be related to its regulatory significance: rs3020394 ESR1 is localized at the site of modified histones in the enhancer regions and at the DNase-hypersensitive site. Conclusion: The G allele of rs3020394 ESR1 is associated with an increased risk of preeclampsia in women from the Central Black Earth Region of Russia (OR = 1.74).
Reshetnikov EA. Polymorphism of genes associated with the age at menarche and the risk of complications of pregnancy in women in the Central Black Earth Region of Russia. Research Results in Biomedicine. 2021;7(2):132-142. Russian. DOI: 10.18413/2658-6533-2021-7-2-0-3
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