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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 adaptive and innate immunity.

A T > C alteration in the promoter region of the VDR variant (rs11568820) removes the binding Cdx2’s transcription factor binding site just upstream of exon 1. This results in a smaller protein with decreased transcriptional activity. The F allele is observed 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 advance our understanding of the role VDR gene polymorphisms could play in influencing the response to dietary supplementation with calcium calcitriol. The carriers of the TaqI and FF genotypes of the FokI polymorphisms have greater transcriptional activation, and are associated with higher calcium absorption, an increase in bone mineral density, and a decreased risk of fractures. To gain a better understanding of the role these genetic variants play in vitamin D supplementation we need to conduct further research using an identical design.