骨骼肌疾病患者VDR基因变异与血清维生素d水平的相关性分析

A. V. Yarshevich, P. Marozik
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引用次数: 0

摘要

目前,肌肉骨骼系统的病理被认为是几种多因素疾病,其发病机制复杂,是由于环境和内源性因素的相互作用。代谢紊乱和对维生素D敏感性降低在病理进展中起着重要作用。过去二十年的研究表明,维生素D的活性代谢物1,25-二羟基维生素D(骨化三醇)的各种生物作用是通过调节与细胞内维生素D受体(VDR)相互作用介导的基因表达来实现的。VDR是相应基因VDR的产物,它决定了它的结构和功能活性。在这个基因中,已经确定了一定数量的多态性变异,可以影响基因的表达。
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ANALYSIS OF ASSOCIATION OF VDR GENE VARIANTS WITH SERUM VITAMIN D LEVEL IN PATIENTS WITH BONE-MUSCULAR DISEASE
Currently, the pathology of the musculoskeletal system is considered in several multifactorial diseases, the pathogenesis of which is complex and is due to the interaction of environmental and endogenous factors. An important role in the progression of pathology is played by disorders in metabolism and a decrease in sensitivity to vitamin D. Studies of the past two decades have shown that the various biological actions of the active metabolite of vitamin D - 1,25-dihydroxy vitamin D (calcitriol) - are carried out by modulating the expression of genes that are mediated by interaction with the intracellular vitamin D receptor (VDR). VDR is a product of the corresponding gene - VDR, which determines its structure and functional activity. In this gene, a certain number of polymorphic variants have been identified that can affect gene expression.
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