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膝骨关节炎、腰椎间盘退变和髋关节发育不良——新兴的遗传重叠。

Knee osteoarthritis, lumbar-disc degeneration and developmental dysplasia of the hip--an emerging genetic overlap.

出版信息

Arthritis Res Ther. 2011 Apr 19;13(2):108. doi: 10.1186/ar3291.

Abstract

Genetics highlights relationships between biological systems, and as the number of defined osteoarthritis susceptibility alleles increases, there is the natural tendency to assess whether the alleles influence other musculoskeletal phenotypes. That has proven to be the case for the GDF5 polymorphism rs143383, a risk factor for knee osteoarthritis and several other common conditions, including lumbar-disc degeneration and developmental dysplasia of the hip. Another interesting example has recently emerged in the repeat polymorphism of the asporin gene, ASPN, which is also associated with these three phenotypes. Such discoveries increase our understanding of shared disease etiology but also emphasize the complexity of common genetic risk.

摘要

遗传学强调生物系统之间的关系,随着定义的骨关节炎易感性等位基因数量的增加,人们自然倾向于评估这些等位基因是否会影响其他肌肉骨骼表型。事实证明,GDF5 多态性 rs143383 就是如此,它是膝关节骨关节炎和其他几种常见疾病(包括腰椎间盘退变和髋关节发育不良)的危险因素。最近,asporin 基因(ASPN)的重复多态性也出现了另一个有趣的例子,该基因也与这三种表型相关。这些发现增加了我们对共同疾病病因的理解,但也强调了常见遗传风险的复杂性。

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