Vitamin D Receptor Polymorphisms

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The Vitamin D receptor (VDR) gene is a transcription element that is turned on 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 for the nucleus and regulates the word of genetics involved in phosphate and calcium metabolism and cell proliferation. Genetic variations of the VDR are connected with a variety of diseases/phenotypes including cancer tumor, tuberculosis, asthma, height, longevity/mortality and cuboid mineral thickness.

One such polymorphism is a FokI alternative rs4516035 which in turn resides in exon installment payments on your This gene variation minimizes the VDR promoter activity by eliminating the GATA binding web page. Studies have demostrated that companies of the TT genotype on this polymorphism demonstrate greater respond to calcium supplementation and lower risk of fractures of the vertebrae. However , the CC genotype shows resistance to treatment simply by increasing 24-hydroxylase and minimizing the activity of VDR.