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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 involved in various biological processes that include calcium and phosphorous metabolic processes, parathormone release, cell expansion and control of innate and adaptive immunity.

A T >C change in the promoter of the VDR variant (rs11568820) removes the binding Cdx2’s transcription factor binding site just upstream of exon 1. This results in an enlargement of the protein, which results in reduced transcriptional activity. The F allele is found in high frequency among Asians and Europeans and in lower frequency among Africans from Sub-Saharan Africa.

The results of this study enhance our understanding of the role that VDR gene polymorphisms might play in modulating the response of dietary supplementation with calcium calcitriol. Carriers of the TaqI and FF genotypes of the FokI polymorphisms have higher transcriptional activation and are associated with better calcium absorption, increased bone mineral density, and a decreased chance of fractures. To gain a better understanding of the role these genetic variants play in vitamin D supplementation we need to conduct more research using an identical design.