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特发性脊柱侧弯:破解遗传密码及其意义何在?

Idiopathic scoliosis: cracking the genetic code and what does it mean?

作者信息

Miller Nancy Hadley

机构信息

The Musculoskeletal Research Center, Department of Orthopedic Surgery, The Children's Hospital, Aurora, CO 80045, USA.

出版信息

J Pediatr Orthop. 2011 Jan-Feb;31(1 Suppl):S49-52. doi: 10.1097/BPO.0b013e318202bfe2.

Abstract

Idiopathic scoliosis is one of the most common complex genetic disorders of the musculoskeletal system. The clinical parameters relating to onset, curve progression, and severity in relation to clinical prognosis and current treatment modalities have been defined, but do not address the cause of this disorder. In an effort to define causative genetic elements, multiple studies have delineated potential genetic loci that are statistically related to idiopathic scoliosis in a variety of populations. The question remains how future genetic testing and genomic profiling may be of aid in the therapeutic algorithms related to this disorder.

摘要

特发性脊柱侧凸是肌肉骨骼系统最常见的复杂遗传性疾病之一。与发病、曲线进展以及与临床预后和当前治疗方式相关的严重程度有关的临床参数已经明确,但并未涉及该疾病的病因。为了确定致病基因元件,多项研究已经在不同人群中描绘出了与特发性脊柱侧凸有统计学关联的潜在基因座。问题仍然是未来的基因检测和基因组分析如何有助于制定与该疾病相关的治疗方案。

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