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 regulates various biological functions, including calcium and the metabolism of phosphorous, parathormone production, cell proliferation, and control of innate and adaptive immunity.

A T >C change in the promoter of the VDR variant (rs11568820) removes the binding site for 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 of this variant is found in high numbers in Asians and Europeans and at a lower frequency in Sub-Saharan Africa.

The results of this study improve our understanding of the role VDR gene polymorphisms may influence the response to diet supplementation with calcium calcitriol. People who carry the TaqI polymorphism, as well as the FF genotype of the FokI polymorphism have greater transcriptional activation of VDR and are associated with increased calcium absorption and bone mineral density, and a decrease in the risk of fractures [34, 35]. Further research using an unbiased design is required to improve our understanding of how these genetic variations influence vitamin D supplementation and its clinical significance.

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