DOI: 10.18413/2658-6533-2022-8-3-0-4

Genetic markers of severe preeclampsia

Background: In modern medicine, close attention is paid to the issues of reducing maternal morbidity and mortality, to the structure of which hypertensive disorders of gestation, especially preeclampsia, make a significant contribution. The complex pathomorphological mechanisms underlying the etiopathogenesis of this pregnancy complication occur long before the manifestation of pronounced clinical signs, which complicates the early diagnosis of preeclampsia and determines the relevance of the search for new preeclampsia-specific markers, including genetic ones. The aim of the study: To evaluate the associations of polymorphic markers of GWAS-significant candidate genes of hypertension with the development of severe preeclampsia. Materials and methods: The sample of women with moderate preeclampsia included 145 individuals, and the sample of women with severe preeclampsia included 72 patients. All subjects underwent genotyping of four polymorphic loci (rs8068318 TBX2, rs2681472 ATP2B1, rs4387287 OBFC1, rs1799945 HFE). The empirical distribution of genotypes and its correspondence to the theoretically expected one within the framework of the Hardy-Weinberg regularity are studied. Logistic regression analysis was carried out and associations of polymorphic loci with the development of severe and moderate preeclampsia were studied according to four genetic models, with the introduction of corrections for covariates. Results: It was found that rs8068318 of the TBX2 gene is associated with the development of severe preeclampsia in the framework of allelic (OR = 0.45; рperm = 0.004), additive (OR = 0.46; рperm = 0.002), dominant (OR = 0.42; рperm = 0.005) and recessive (OR = 0.22; рperm = 0.04) genetic models. The polymorphic locus rs8068318 of the TBX2 gene is localized in the region of hypersensitivity to DNase, the region of DNA regulatory motifs to four transcription factors, the region of histone tags marking enhancers and promoters in various organs and tissues, negatively regulates the expression of the TBX2-AS1 gene in adipose tissue and brain, the TBX2 gene in the thyroid gland, and is associated with the level of alternative splicing of TBX2-AS1 and RP11-332H18.5 genes in various tissues. Conclusion: The rs8068318 polymorphic marker of the TBX2 gene is associated with the development of severe preeclampsia in the population of the Central Chernozem region of the Russian Federation.

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