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The Role of VDR Gene Polymorphisms in Vitamin D Supplementation

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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 regulates various biological effects, including calcium as well as metabolism of phosphorous as well as parathormones, cell proliferation, and the regulation of adaptive and innate immunity.

A T > C change in the promoter region of the VDR variant (rs11568820) eliminates the binding Cdx2’s transcription factor binding site just upstream of exon 1. This results in a smaller protein that has decreased transcriptional activity. The F allele of this variant is found at a high frequency among Asians and Europeans and at a low frequency in Sub-Saharan Africa.

The findings of this study help us understand how VDR gene polymorphisms affect the response to supplements in the diet that contain calcium calcitriol. The carriers of the TaqI polymorphism, as well as the FF genotype of the FokI polymorphism have greater transcriptional activation of VDR and are associated with improved calcium absorption and bone mineral density as well as an increase in the risk of fractures [34 35, 34]. To gain a better understanding of the role that these genetic variants have in vitamin D supplementation we must conduct further research using an homogeneous design.

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