Vitamin D Receptor Polymorphisms

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The Calciferol receptor (VDR) gene is mostly a transcription variable that is activated by the ligand calcitriol or 1-alfa, 25-dihydroxycholecalciferol (1a, 25(OH)2D3) to create a heterodimer with retinoid Back button receptor (RXR). The heterodimer then migrates towards the nucleus and regulates the word of genes involved in phosphate and calcium supplement metabolism and cell expansion. Genetic variants of the VDR are associated with a variety of diseases/phenotypes including cancer, tuberculosis, breathing difficulties, height, longevity/mortality and bone mineral denseness.

One such polymorphism is definitely the FokI variant rs4516035 which will resides in exon 2 . This gene variation reduces the VDR promoter activity by eliminating the GATA binding internet site. Studies have shown that service providers of the TT genotype on this polymorphism demonstrate greater response to calcium supplements and lower risk of cracks of the backbone. However , the CC genotype shows resistance from treatment simply by increasing 24-hydroxylase and minimizing the activity of VDR.