Urano Tomohiko, Inoue Satoshi
Department of Geriatric Medicine, Graduate School of Medicine, The University of Tokyo, Tokyo 113-8655, Japan.
Endocr J. 2015;62(6):475-84. doi: 10.1507/endocrj.EJ15-0154. Epub 2015 Apr 11.
Osteoporosis is a skeletal disorder characterized by low bone mineral density (BMD) and an increased susceptibility to fractures. Evidence from genetic studies indicates that BMD, a complex quantitative trait with a normal distribution, is genetically controlled. Genome-wide association studies (GWAS) as well as studies using candidate gene approaches have identified single-nucleotide polymorphisms (SNPs) that are associated with BMD, osteoporosis and osteoporotic fractures. These SNPs have been mapped close to or within genes including those encoding WNT/β-catenin signaling proteins. Understanding the genetics of osteoporosis will help to identify novel candidates for diagnostic and therapeutic targets. Genetic factors are also important for the development of sarcopenia, which is characterized by a loss of lean body mass, and obesity, which is characterized by high fat mass. Hence, in this review, we discuss the genetic factors, identified by genetic studies, which regulate the body components related to osteoporosis, sarcopenia, and obesity.
骨质疏松症是一种以骨矿物质密度（BMD）低和骨折易感性增加为特征的骨骼疾病。基因研究的证据表明，BMD是一种具有正态分布的复杂数量性状，受基因控制。全基因组关联研究（GWAS）以及使用候选基因方法的研究已经鉴定出与BMD、骨质疏松症和骨质疏松性骨折相关的单核苷酸多态性（SNP）。这些SNP已被定位在靠近或位于包括编码WNT/β-连环蛋白信号蛋白的基因在内的基因附近或内部。了解骨质疏松症的遗传学将有助于识别诊断和治疗靶点的新候选物。遗传因素对肌肉减少症（其特征是瘦体重减少）和肥胖症（其特征是高脂肪量）的发展也很重要。因此，在本综述中，我们讨论了通过基因研究确定的调节与骨质疏松症、肌肉减少症和肥胖症相关身体成分的遗传因素。
