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 is responsible for regulating a range of biological effects including calcium and phosphorous metabolism, parathormone secretion cell proliferation, and control of adaptive and innate immunity.
A T > C alteration in the promoter region of the VDR variant (rs11568820) eliminates the binding site of the transcription factor Cdx2 just upstream of exon 1. This results in a less pronounced protein with reduced transcriptional activity. The F allele is observed in high frequency among Asians and Europeans, and in low frequencies among Sub-Saharan Africans.
The findings of this study improve our understanding of the role VDR gene polymorphisms can play in modulating the response to diet supplementation with calcium calcitriol. The carriers of the TaqI and FF genotypes of the FokI polymorphisms show higher transcriptional activation and are associated with higher calcium absorption, increased bone mineral density, and a decreased chance of fractures. Further research with an overall design is required to increase our understanding of how these genetic variations influence vitamin D supplementation as well as its clinical importance.
