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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。
Vitamin D (VD) is closely related to the absorption of calcium and phosphorus in bone metabolism. Its active form is 1,25 (OH) 2D3. While VD receptor (VDR) is an intracellular biological macromolecule that mediates the biological effects of 1,25 (OH) 2D3. In recent years, with the further research on bone disease, more and more attention has been paid to the relationship between VDR gene and bone metabolism. VDR genes are highly polymorphic in different groups and even individuals. At present, a large number of studies have focused on the relationship between FokI, BsmI, ApaI, TaqI and bone metabolism in four single nucleotide polymorphism (SNP) sites of VDR gene. The authors reviewed the relationship between VDR gene and bone metabolism in terms of calcium absorption, bone mass, bone mineral density, osteoporosis, rickets and so on.