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The Role of VDR Gene Polymorphisms in Vitamin D Supplementation

(Last Updated On: April 11, 2024)

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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 and phosphorous metabolism, parathormone secretion cell proliferation, and the control of innate and adaptive immunity.

A T > C base shift in the promoter region of the VDR variant rs11568820 obliterates the binding site for transcription factor Cdx2 located upstream of exon 1e. This causes to the production of a smaller protein that has decreased transcriptional activity. The F allele is present in high frequency among Asians and Europeans and in lower frequency among Sub-Saharan Africans.

The results of this research advance our understanding of how VDR gene polymorphisms alter the response to supplements in the diet that contain calcium calcitriol. People who carry the TaqI and FF genotypes of the FokI polymorphisms show higher transcriptional activation, and are associated with higher calcium absorption, increased bone mineral density, and a lower risk of breaking. To gain a better understanding of the role that these genetic variants play in vitamin D supplementation we need to conduct more research with the same design.

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