Calciferol Receptor Polymorphisms

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The Vitamin D receptor (VDR) gene can be described as transcription aspect that is stimulated 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 expression of family genes involved in phosphate and calcium supplement metabolism and cell expansion. Genetic variations of the VDR are associated with a variety of diseases/phenotypes including cancer tumor, tuberculosis, asthma, height, longevity/mortality and bone tissue mineral thickness.

One such polymorphism is the FokI version rs4516035 which usually resides in exon 2 . This gene variation minimizes the VDR promoter activity by eliminating the GATA binding site. Studies have indicated that insurers of the TT genotype of this polymorphism demonstrate greater respond to calcium dietary supplements and lower risk of bone injuries of the vertebrae. However , the CC genotype shows capacity treatment by simply increasing 24-hydroxylase and minimizing the activity of VDR.

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