Miller Nancy Hadley
University of Colorado at Denver and Health Sciences Center, Denver, CO, USA.
Clin Orthop Relat Res. 2007 Sep;462:6-10. doi: 10.1097/BLO.0b013e318126c062.
Idiopathic scoliosis in the adolescent period is a complex genetic disorder of high prevalence and extreme variability. Epidemiological approaches have confirmed the genetic basis of this disorder and have suggested multiple modes of heritability. The current challenge is to identify the genetic determinants of this condition to distinguish individuals who are at risk for severe progression. This review summarizes the literature establishing the genetic basis of this disorder. Studies focused on the identification of genes responsible for the scoliotic phenotype are reviewed, with an emphasis on recent works that have utilized contemporary strategies to isolate genes related to complex diseases. To date, molecular studies have isolated critical regions on chromosomes and X of potential importance to the etiology of scoliosis. An analysis of these works will aid in an understanding of seemingly conflicting results, and will help us determine the focus of future work.
青少年特发性脊柱侧弯是一种复杂的遗传性疾病，患病率高且具有极大的变异性。流行病学研究方法已证实该疾病的遗传基础，并提示了多种遗传模式。当前的挑战是确定导致这种情况的遗传决定因素，以区分有严重进展风险的个体。本综述总结了确立该疾病遗传基础的文献。重点回顾了旨在鉴定导致脊柱侧弯表型的基因的研究，特别关注那些利用当代策略分离与复杂疾病相关基因的近期研究成果。迄今为止，分子研究已在染色体和X染色体上分离出对脊柱侧弯病因可能具有重要意义的关键区域。对这些研究成果的分析将有助于理解看似相互矛盾的结果，并帮助我们确定未来工作的重点。
