University of Queensland Diamantina Institute for Cancer, Immunology and Metabolic Medicine, Princess Alexandra Hospital, Ipswich Road, Woolloongabba, Queensland 4102, Australia.
J Clin Endocrinol Metab. 2010 Jun;95(6):2576-87. doi: 10.1210/jc.2009-2406. Epub 2010 Apr 7.
Osteoporosis is a common, highly heritable condition that causes substantial morbidity and mortality, the etiopathogenesis of which is poorly understood. Genetic studies are making increasingly rapid progress in identifying the genes involved.
In this review, we will summarize the current understanding of the genetics of osteoporosis based on publications from PubMed from the year 1987 onward.
Most genes involved in osteoporosis identified to date encode components of known pathways involved in bone synthesis or resorption, but as the field progresses, new pathways are being identified. Only a small proportion of the total genetic variation involved in osteoporosis has been identified, and new approaches will be required to identify most of the remaining genes.
骨质疏松症是一种常见的、高度遗传性疾病，会导致严重的发病率和死亡率，但发病机制尚不清楚。遗传研究在确定相关基因方面取得了越来越快的进展。
在这篇综述中，我们将根据 1987 年以来 PubMed 上的出版物，总结目前对骨质疏松症遗传学的认识。
迄今为止，已鉴定出的大多数与骨质疏松症相关的基因编码已知骨合成或吸收途径的组成部分，但随着该领域的发展，新的途径正在被发现。骨质疏松症所涉及的总遗传变异的一小部分已被鉴定出来，需要新的方法来鉴定大部分剩余的基因。
