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The Polymorphic Locus rs167479 of the RGL3 Gene Is Associated with the Risk of Severe Preeclampsia

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Abstract

In this work, the associations of polymorphism of candidate genes of arterial hypertension with the development of severe preeclampsia (PE) in the population of the Central Chernozem region of Russia were studied. Genoty** of five polymorphic variants (rs1799945 of the HFE gene, rs8068318 of the TBX2 gene, rs1173771 of the AC025459.1 gene, rs932764 of the PLCE1 gene, rs167479 of the RGL3 gene) was performed in 217 women with severe PE and 235 pregnant women with moderate PE. It was revealed that the G allele and the GG genotype of the rs167479 polymorphic locus of the RGL3 gene were associated with the risk of severe PE according to allelic (OR = 1.35, рperm = 0.02), additive (OR = 1.36, рperm = 0.02), and recessive (OR = 1.61, рperm = 0.04) genetic models. It has been established that this polymorphic locus is localized in a functionally active region of the genome that performs the functions of enhancers and promoters in various organs and tissues, is an area of hypersensitivity to DNase-1 and a binding site with nine transcription regulatory factors, and is associated with the expression level of the CTC-510F12.3 gene in the pituitary gland. In addition, rs167479 identifies a missense mutation that leads to the substitution of the amino acid Pro162His in the RalGDS-like3 protein and has a predictor potential of “PROBABLY DAMAGING.”

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Funding

The present study was supported by the Grant of the President of the Russian Federation “The Study of Genetic Factors of Women’s Reproductive Health” (MD-3284.2022.1.4).

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  1. Belgorod National Research University, 308015, Belgorod, Russia

    M. Yu. Abramova, I. V. Ponomarenko & M. I. Churnosov

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Abramova, M.Y., Ponomarenko, I.V. & Churnosov, M.I. The Polymorphic Locus rs167479 of the RGL3 Gene Is Associated with the Risk of Severe Preeclampsia. Russ J Genet 58, 1543–1550 (2022). https://doi.org/10.1134/S102279542212002X

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