Характеристика полиморфизмов гена рецептора витамина D

Abstract

The article presents the characteristics of the main vitamin D receptor (VDR) gene polymorphisms: rs2228570 (FokI), rs731236 (TaqI), rs1544410 (BsmI) and rs7975232 (ApaI). The role of the vitamin D hormonally active form (1,25(OH)2D3, calcitriol) as a transcription factor regulating gene expression in target cells by binding to the vitamin D receptor protein is described. The immunomodulatory and mediating effect of VDRs on the biological functions of the human body has been noted. A description of the vitamin D receptor gene and its polymorphic character have been provided. The analysis of the four most significant single nucleotide polymorphisms (SNPs) of the VDR gene was carried out. A detailed description of each polymorphism, its genomic position, the nature of interaction with other polymorphisms of the vitamin D receptor gene, as well as its effect on the structure and activity of the VDR protein were given. The analysis of the indicated single-nucleotide polymorphisms allelic composition was conducted according to the literature and specialized SNP databases. The frequency of each polymorphism individual alleles occurrence, as well as their influence on the predisposition and course of various diseases, were studied. The need for further studies of VDR gene polymorphisms, their allelic composition and prevalence was designated. It is also necessary to study the possibilities of their potential use as genetic markers for such relevant but little-studied pathologies as COVID-19.