Vitamin D Receptor Polymorphisms

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The Vitamin D receptor (VDR) gene is known as a transcription thing that is stimulated by the ligand calcitriol or 1-alfa, 25-dihydroxycholecalciferol (1a, 25(OH)2D3) to create a heterodimer with retinoid Times receptor (RXR). The heterodimer then migrates right here to the nucleus and regulates the expression of genetics involved in phosphate and calcium supplement metabolism and cell growth. Genetic variations of the VDR are linked to a variety of diseases/phenotypes including cancers, tuberculosis, bronchial asthma, height, longevity/mortality and calcaneus mineral density.

One such polymorphism may be the FokI version rs4516035 which will resides in exon 2 . This gene variation reduces the VDR promoter activity by eliminating the GATA binding web page. Studies have demostrated that providers of the TT genotype of this polymorphism demonstrate greater respond to calcium supplements and manage risk of cracks of the vertebrae. However , the CC genotype shows resistance to treatment by simply increasing 24-hydroxylase and reducing the activity of VDR.