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 signals regulate a variety of biological functions, including calcium and metabolism of phosphorous as well as parathormones cell proliferation, and control of adaptive and innate immunity.

A T > C base shift in the promoter region of VDR variant rs11568820 blocks the binding site for transcription factor Cdx2 downstream of exon 1e. This leads to the production of a less sized protein with reduced transcriptional activity. The F allele of this variant is located in high numbers in Asians and Europeans and at a lower frequency in Sub-Saharan Africa.

The results of this study improve our understanding of the role that VDR gene polymorphisms may have in regulating the response of dietary supplementation with 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 increased calcium absorption and bone mineral density and a reduction in the risk of fractures [34 35, 34[34, 35]. Further research with an overall design is required to improve our understanding of how these genetic variations influence vitamin D supplementation and its clinical significance.