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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 processes, including calcium and metabolism of phosphorous, parathormone release, cell proliferation, and the regulation of adaptive and innate immunity.
A T > C base modification in the promoter region of VDR variant rs11568820 blocks the binding site for the transcription factor Cdx2 upstream of exon 1e. This results to the production of a lower amount of protein and decreased transcriptional activity. The F allele of this variant is found at a high rate in Asians and Europeans and at a low frequency in Sub-Saharan Africa.
The findings of this study have improved our understanding of the role VDR gene polymorphisms could play in modulating the response of dietary supplementation with calcitriol. People who carry the TaqI and FF genotypes of the FokI polymorphisms have higher transcriptional activation, and are associated with greater calcium absorption, an increase in bone mineral density, and a reduced chance of fractures. To gain a better understanding of the role that these genetic variants play in vitamin D supplementation we must study more using an identical design.
