Vitamin D Receptor Polymorphisms
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The Calciferol receptor (VDR) gene may be a transcription consideration that is stimulated by the ligand calcitriol or 1-alfa, 25-dihydroxycholecalciferol (1a, 25(OH)2D3) to form a heterodimer with retinoid A receptor (RXR). The heterodimer then migrates to the nucleus and regulates the expression of genetics involved in phosphate and calcium mineral metabolism and cell proliferation. Genetic variants of the VDR are associated with a variety of diseases/phenotypes including cancer, tuberculosis, bronchial asthma, height, longevity/mortality and bone fragments mineral density.
One such polymorphism may be the FokI alternative rs4516035 which in turn resides in exon 2 . This gene variation minimizes the VDR promoter activity by eliminating customer orientated approach the GATA binding internet site. Studies have demostrated that carriers of the TT genotype of this polymorphism show greater response to calcium dietary supplements and lower risk of bone injuries of the vertebrae. However , the CC genotype shows resistance to treatment by increasing 24-hydroxylase and lowering the activity of VDR.