Vitamin D Receptor Polymorphisms


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The Calciferol receptor (VDR) gene can be described as transcription factor that is activated by the ligand calcitriol or 1-alfa, 25-dihydroxycholecalciferol (1a, 25(OH)2D3) to form a heterodimer with retinoid Times receptor (RXR). The heterodimer then migrates towards the nucleus and regulates the word of genes involved in phosphate and calcium metabolism and cell proliferation. Genetic alternatives of the VDR are connected with a variety of diseases/phenotypes including tumor, tuberculosis, breathing difficulties, height, longevity/mortality and bone mineral thickness.

One such polymorphism may be the FokI version rs4516035 which in turn resides in exon 2 . This gene variation decreases the VDR promoter activity by eliminating the GATA binding web page. Studies have shown that insurers of the TT genotype of this polymorphism show greater respond to calcium supplements and manage risk of fractures of the backbone. However , the CC genotype shows resistance to treatment simply by increasing 24-hydroxylase and lowering the activity of VDR.

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