Mitchell Braxton D, Streeten Elizabeth A
Department of Medicine and Program for Personalized and Genomic Medicine, University of Maryland School of Medicine, and Geriatric Research and Education Clinical Center, Veterans Administration Medical Center, Baltimore, MD, USA.
Appl Clin Genet. 2013 Oct 4;6:75-85. doi: 10.2147/TACG.S52047.
Osteoporotic fracture carries an enormous public health burden in terms of mortality and morbidity. Current approaches to identify individuals at high risk for fracture are based on assessment of bone mineral density and presence of other osteoporosis risk factors. Bone mineral density and susceptibility to osteoporotic fractures are highly heritable, and over 60 loci have been robustly associated with one or both traits through genome-wide association studies carried out over the past 7 years. In this review, we discuss opportunities and challenges for incorporating these genetic discoveries into strategies to prevent osteoporotic fracture and translating new insights obtained from these discoveries into development of new therapeutic targets.
骨质疏松性骨折在死亡率和发病率方面给公共卫生带来了巨大负担。目前识别骨折高危个体的方法是基于骨密度评估和其他骨质疏松风险因素的存在情况。骨密度和骨质疏松性骨折的易感性具有高度遗传性，在过去7年通过全基因组关联研究，已有超过60个基因座与这一性状中的一个或两个性状紧密相关。在本综述中，我们讨论了将这些遗传学发现纳入预防骨质疏松性骨折策略以及将从这些发现中获得的新见解转化为新治疗靶点开发所面临的机遇和挑战。
