Searching for genes underlying susceptibility to osteoporotic fracture: current progress and future prospect

Searching for genes underlying susceptibility to osteoporotic fracture: current progress and future prospect
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寻找骨质疏松性骨折易感基因:当前进展与未来展望

DOI:
10.1007/s00198-007-0402-4
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发表时间:
2007-05
期刊:
Osteoporos Int
影响因子:
--
通讯作者:
F. Y. Deng
F. Y. Deng
中科院分区:
其他
文献类型:
--
作者:
H. Jiang;S. F. Lei;H. W. Deng;F. Y. Deng

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骨质疏松性骨折(Of)是一个公共卫生问题。在骨质疏松症的遗传学研究中,骨密度(BMD)被作为寻找ROF风险的主要替代表型,因为它们的表型相关性很高,这是一种常见的做法。然而,一些研究表明,骨密度与ROF之间的遗传相关性很低。这意味着,大多数被发现的对BMD重要的基因可能与ROF无关。在理想情况下,以自身为直接研究表型可以直接寻找ROF的相关基因。本文综述了支持ROF处于适度遗传控制下的一些证据,以及以其为直接研究表型的分子遗传学研究现状,并对ROF的遗传学研究前景进行了展望。
IntroductionOsteoporotic fracture (OF) is a public health problem. It is a common practice in the genetics of osteoporosis that bone mineral density (BMD) was studied as a major surrogate phenotype in gene search for risk of OF (ROF) because of their high phenotypic correlation. However, some studies indicate that the genetic correlation between BMD and ROF is very low. This implies that most genes found important for BMD may not be relevant to ROF. Ideally, employing OF per se as a direct study phenotype can directly find the relevant genes underlying ROF.EvidenceHere, we summarized some evidence supporting ROF under moderate genetic control, and the current progress of molecular genetic studies employing OF as the direct study phenotype, then give our consideration on the future prospects in the genetics of ROF.
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