The Role of VDR Gene Polymorphisms in Vitamin D Supplementation

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The vitamin D receptor (VDR) is a nuclear transcriptional regulator that activates by binding to 1a,25-dihydroxycholecalciferol (1a,25(OH)2D), known as calcitriol, which forms a heterodimer with the retinoid X receptor (RXR). Calcitriol signalling plays a role in various biological processes, including metabolic processes involving calcium and phosphorous parathormone release, cell proliferation and control of innate and adaptive immunity.

A T > C change in the promoter of VDR variant (rs11568820) removes the binding site of the transcription factor Cdx2 just upstream of exon 1. This leads to an enlargement of the protein, which results in decreased transcriptional activity. The F allele is observed in high frequency among Asians and Europeans, and in lower frequency in Sub-Saharan Africans.

The results of this study have improved our understanding of the role VDR gene polymorphisms may play in modulating the response to supplementation with calcium calcitriol. The carriers of the TaqI and FF genotypes of the FokI polymorphisms show higher transcriptional activation and are associated with better calcium absorption, an increase in bone mineral density, and a reduced risk of fractures. Further research with more homogeneous designs is required to enhance our understanding of how these genetic variations affect vitamin D supplementation and its clinical importance.

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