Vitamin D receptor gene polymorphisms characteristic

Authors

  • V.V. Protas
  • G.P. Pogossyan
  • K.G. Li
  • M.P. Danilenko

DOI:

https://doi.org/10.31489/2021bmg4/60-70

Keywords:

vitamin D, vitamin D receptor (VDR), VDR gene, VDR gene polymorphisms, rs2228570 (FokI), rs731236 (TaqI), rs1544410 (BsmI), rs7975232 (ApaI)

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 hor-monally 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 polymor-phism, 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 in-dicated 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 ofvarious diseases, were studied. The need for further studies
of VDR gene polymorphisms, their allelic compositionand prevalence was designated. It is also necessary to
study the possibilities of their potential use as genetic markers for such relevant but little-studiedpathologies
as COVID-19.

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Published

2021-12-30

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Articles