The Role of VDR Gene Polymorphisms in Vitamin D Supplementation

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The vitamin D Click This Link 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 is responsible for regulating a range of biological functions, including calcium and phosphorous metabolism, parathormone secretion cell proliferation, as well as the control of innate and adaptive immunity.

A T > C base alteration in the promoter region of the VDR variant rs11568820 eliminates the binding site for the transcription factor Cdx2 located upstream of exon 1e and leads to the production of a smaller protein that has decreased transcriptional activity. The F variant is found in high frequency among Asians and Europeans, and in low frequency in Sub-Saharan Africans.

The findings of this study have improved our understanding of the role VDR gene polymorphisms may have in regulating the response to supplementation with calcium calcitriol. The carriers of the TaqI polymorphism as well as the FF genotype of the FokI polymorphism have higher transcriptional activation of VDR and are associated with better calcium absorption and bone mineral density as well as a decrease in the risk of fractures [34, 35]. Further research with an unbiased design is required to improve our understanding of how these genetic variants affect vitamin D supplementation and its clinical importance.