Department of Geriatric Medicine, Graduate School of Medicine, The University of Tokyo, Tokyo 113-8655, Japan.
Department of Geriatric Medicine, Graduate School of Medicine, The University of Tokyo, Tokyo 113-8655, Japan; Department of Anti-Aging Medicine, Graduate School of Medicine, The University of Tokyo, Tokyo 113-8655, Japan; Division of Gene Regulation and Signal Transduction, Research Center for Genomic Medicine, Saitama Medical University, Saitama, Japan.
Biochem Biophys Res Commun. 2014 Sep 19;452(2):287-93. doi: 10.1016/j.bbrc.2014.07.141. Epub 2014 Aug 16.
Osteoporosis is a skeletal disease characterized by low bone mineral density (BMD) and microarchitectural deterioration of bone tissue, which increases susceptibility to fractures. BMD is a complex quantitative trait with normal distribution and seems to be genetically controlled (in 50-90% of the cases), according to studies on twins and families. Over the last 20 years, candidate gene approach and genome-wide association studies (GWAS) have identified single-nucleotide polymorphisms (SNPs) that are associated with low BMD, osteoporosis, and osteoporotic fractures. These SNPs have been mapped close to or within genes including those encoding nuclear receptors and WNT-β-catenin signaling proteins. Understanding the genetics of osteoporosis will help identify novel candidates for diagnostic and therapeutic targets.
骨质疏松症是一种骨骼疾病，其特征是骨矿物质密度（BMD）低和骨组织微观结构恶化，从而使骨折的易感性增加。根据对双胞胎和家庭的研究，BMD 是一种具有正态分布的复杂数量性状，似乎受遗传控制（在 50-90%的情况下）。在过去的 20 年中，候选基因方法和全基因组关联研究（GWAS）已经确定了与低 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 已被定位在靠近或包含编码核受体和 WNT-β-连环蛋白信号蛋白的基因内。了解骨质疏松症的遗传学将有助于确定新的诊断和治疗靶标候选者。
