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 is involved a variety of biological effects that include calcium and phosphorous metabolic processes and parathormone release. It also plays a role in cell proliferative processes, and the control of adaptive and innate immunity.
A T > C change in the promoter region of the VDR variant (rs11568820) removes the binding Cdx2’s transcription factor binding site just upstream of exon 1. This results in a less pronounced protein with reduced transcriptional activity. The F allele is present in high frequency among Asians and Europeans, and in low frequency among Africans living in Sub-Saharan Africa.
The findings of this study help us understand how VDR gene polymorphisms affect the response to dietary supplements with calcium calcitriol. The carriers of the TaqI and FF genotypes of the FokI polymorphisms show higher transcriptional activation, and are associated with higher calcium absorption, higher bone mineral density, and a decreased risk of breaking. Further research using more homogeneous designs is required to improve our understanding of how these genetic variations influence vitamin D supplementation as well as its clinical significance.
