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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 many biological effects, including the metabolic processes of calcium and phosphorous and parathormone release. It also plays a role in cell proliferative processes, and the control of adaptive and innate immunity.
A T > C base shift in the promoter region of the VDR variant rs11568820 blocks the binding site for the transcription factor Cdx2 downstream of exon 1e. This causes to the production of a lower amount of protein and decreased transcriptional activity. The F variant is found in high frequency among Asians and Europeans and is not found in a high frequency among Africans living in Sub-Saharan Africa.
The findings of this study improve our understanding of the role VDR gene polymorphisms may influence the response of dietary supplementation with calcium calcitriol. Carriers of the TaqI and FF genotypes of the FokI polymorphisms have greater transcriptional activation, and are associated with better calcium absorption, increased bone mineral density, and a reduced risk of breaking. Further research using an unbiased design is required to enhance our understanding of how these genetic variations affect vitamin D supplementation and its clinical significance.
