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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 signals regulate a variety of biological effects, including calcium as well as the metabolism of phosphorous, parathormone production cell proliferation, and control of innate and adaptive immunity.

A T > C alteration in the promoter of the VDR variant (rs11568820) removes the binding site for transcription factor Cdx2 just upstream of exon 1. This leads to a less pronounced protein with reduced transcriptional activity. The F variant is found in high frequency among Asians and Europeans, and is not found in a high frequency among Africans from Sub-Saharan Africa.

The findings of this study enhance our understanding of how VDR gene polymorphisms influence the response to dietary supplements containing calcitriol. People who carry the TaqI and FF genotypes of the FokI polymorphisms have greater transcriptional activation, and are associated with higher calcium absorption, higher bone mineral density, and a reduced risk of breaking. To gain a better understanding of the role these genetic variations play in vitamin D supplementation we need to conduct further research using the same design.

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