Evolutionary-genetic analysis of the role of regulatory regions in NDRG1 gene in the formation of the hereditary predisposition structure to preeclampsia in different ethnic groups

Regulatory single nucleotide polymorphisms (rSNPs) are of substantial interest, because they play a significant role in the development of human pathology by altering the level of candidate genes expression. However they represent the least studied group of single nucleotide polymorphisms (SNPs). The purpose of this research was to study preeclampsia (PE) genetics components via the regulatory polymorphic variants of the new NDRG1 candidate gene and to detect the role of natural selection in its formation. In this work, we analyzed four rSNPs. Three ethnic group have been studied (Yakut, Russian, Buryat). We have detected significant associations of PE with three rSNPs NDRG1 gene: rs12678229, rs2227262 and rs3802252. We demonstrated the effect of weak negative selection for rs2227262. The results of this study provide evidence for a significant role of the new NDRG1 candidate gene in the variability of the placental tissue expression between normal pregnancy and PE.

преэклампсия, регуляторный однонуклеотидный полиморфный вариант (rSNP), ассоциативное исследование, плацента, транскриптом, естественный отбор, preeclampsia, regulatory single-nucleotide polymorphisms (rSNPs), association study, placenta, transcriptome, natural selection

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