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骨质疏松症的遗传学

Genetics of osteoporosis.

作者信息

Huang Qing-Yang, Kung Annie Wai Chee

机构信息

Department of Medicine, The University of Hong Kong, Hong Kong, PR China.

出版信息

Mol Genet Metab. 2006 Aug;88(4):295-306. doi: 10.1016/j.ymgme.2006.04.009. Epub 2006 Jun 9.

Abstract

Osteoporosis is a common disease with a strong genetic component. In recent years, some progress has been made in understanding the genetic basis of osteoporosis. Genetic factors contribute to osteoporosis by influencing not only bone mineral density but also bone size, bone quality, and bone turnover. Meta-analysis has been used to define the role of several candidate genes in osteoporosis. Some quantitative trait loci that regulate bone mass identified by linkage studies in humans and experimental animals have been replicated in multiple populations. Genes that cause monogenic bone diseases also contribute to regulation of bone mass in the normal population. Genome-wide association studies and functional genomics approaches have recently begun to apply to genetic studies of osteoporosis. In the future, not only single gene but also the entire gene networks involved in osteoporosis and regulation of bone mass will systematically be discovered through integrative genomics.

摘要

骨质疏松症是一种具有很强遗传因素的常见疾病。近年来,在理解骨质疏松症的遗传基础方面取得了一些进展。遗传因素不仅通过影响骨矿物质密度,还通过影响骨大小、骨质量和骨转换来导致骨质疏松症。荟萃分析已被用于确定几种候选基因在骨质疏松症中的作用。通过人类和实验动物的连锁研究确定的一些调节骨量的数量性状位点已在多个群体中得到验证。导致单基因骨病的基因也在正常人群中对骨量调节起作用。全基因组关联研究和功能基因组学方法最近已开始应用于骨质疏松症的遗传研究。未来,不仅将通过整合基因组学系统地发现与骨质疏松症和骨量调节相关的单个基因,还将发现整个基因网络。

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