The Role of VDR Gene Polymorphisms in Vitamin D Supplementation

By April 11, 2024 No Comments

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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 plays a role in various biological processes, including calcium and phosphorous metabolic processes, parathormone release, cell growth and regulation of innate and adaptive immunity.

A T > C change in the promoter of the VDR variant (rs11568820) removes the binding site of transcription factor Cdx2 just upstream of exon 1. This leads to an enlargement of the protein, which results in reduced transcriptional activity. The F allele is present in high frequency among Asians and Europeans and is not found in a high frequency among Africans living in Sub-Saharan Africa.

The results of this study improve our understanding of the role that VDR gene polymorphisms can play in influencing the response to dietary supplementation with calcium calcitriol. People who carry the TaqI polymorphism, as well as the FF genotype of the FokI polymorphism exhibit higher transcriptional activation of VDR and are associated with higher calcium absorption and bone mineral density and reduced risk of fractures [34 35, 34]. To gain a better understanding of the role that these genetic variants play in vitamin D supplementation, we need to conduct more research using an identical design.


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