维生素D受体基因与骨代谢关系的研究

The VDR Gene Polymorphsims and Bone Metabolism

维生素D(VD)与骨代谢的钙磷吸收有着非常密切的关系,其体内活性形式为1,25(OH)2D3。而VD受体(VDR)是介导1,25(OH)2D3发挥生物效应的核内生物大分子。近年来,随着对骨病研究的深入,对VDR基因与骨代谢关系的研究越来越受到国内外学者的重视。在不同群体甚至不同个体中,VDR基因极容易表现出多态性。目前大量的研究集中在VDR基因4个单核苷酸多态性(single nucleotide polymorphism,SNP)位点FokI、BsmI、ApaI、TaqI与骨代谢之间的关系。作者分别从钙吸收、骨量、骨密度、骨质疏松、佝偻病等方面对VDR基因与骨代谢关系进行综述。

In recently, a number of researchers have focused on the relationship between vitamin D receptor （VDR） and bone metabolism. It has been shown that the vitamin D that the active metabolite is 1,25（OH）2 vitamin D3, has play in important role in the regulation bone metabolism and absorption of calcium and phosphorous. The VDR is easily expressed polymorphisms in the different communities even the different individuals. It have been reported that the four single nucleotide polymorphisms of VDR were FokI,BsmI, ApaI,TaqI. The purpose of this review is to summarize the progress of the relationship between VDR gene polymorphsims and bone metabolism in aspects of calcium absorption, bone mass, bone mineral density, osteoporosis and rickets and so on.