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Genetics and osteoporosis.

机译：遗传学和骨质疏松症。

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Over the past 10 years, many advances have been made in understanding the mechanisms by which genetic factors regulate susceptibility to osteoporosis. It has become clear from studies in man and experimental animals that different genes regulate BMD at different skeletal sites and in men and women. Linkage studies have identified several chromosomal regions that regulate BMD, but only a few causative genes have been discovered so far using this approach. In contrast, significant advances have been made in identifying the genes that cause monogenic bone diseases, and polymorphic variation is some of these genes has been found to contribute to the genetic regulation of BMD in the normal population. Other genes that have been investigated as possible candidates for susceptibility to osteoporosis because of their role in bone biology, such as vitamin D, have yielded mixed results. Many candidate gene association studies have been underpowered, and meta-analysis has been used to try to confirm or refute potential associations and gain a better estimate of their true effect size in the population. Most of the genetic variants that confer susceptibility to osteoporosis remain to be discovered. It is likely that new techniques such as whole-genome association will provide new insights into the genetic determinants of osteoporosis and will help to identify genes of modest effect size. From a clinical standpoint, genetic variants that are found to predispose to osteoporosis will advance our understanding of the pathophysiology of the disease. They could be developed as diagnostic genetic tests or form molecular targets for design of new drugs for the prevention and treatment of osteoporosis and other bone diseases.
机译：在过去的十年中，在了解遗传因素调节骨质疏松症易感性的机制方面取得了许多进展。从对人和实验动物的研究中可以清楚地看出，不同的基因在不同的骨骼部位以及男人和女人中调节BMD。连锁研究已经确定了几个调节BMD的染色体区域，但是到目前为止，使用这种方法仅发现了一些致病基因。相反，在鉴定引起单基因骨疾病的基因方面已经取得了重大进展，多态性变异是其中一些基因被发现有助于正常人群中BMD的遗传调控。由于其在骨骼生物学中的作用，其他已被研究可能成为骨质疏松症易感性的基因，例如维生素D，产生了混合的结果。许多候选基因关联研究的能力不足，并且使用荟萃分析来尝试确认或驳斥潜在关联，并更好地估计其在人群中的真实效应大小。赋予骨质疏松症易感性的大多数遗传变异仍有待发现。诸如全基因组关联之类的新技术可能会为骨质疏松症的遗传决定因素提供新的见解，并有助于鉴定效应大小适中的基因。从临床的角度来看，发现易患骨质疏松症的遗传变异将促进我们对该疾病的病理生理学的了解。它们可以被开发为诊断性遗传测试或形成分子靶标，以设计用于预防和治疗骨质疏松症和其他骨骼疾病的新药。

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