特发性脊柱侧凸的遗传学与发病机制
Genetics and pathogenesis of idiopathic scoliosis.
作者信息
Grauers A, Einarsdottir E, Gerdhem P
机构信息
Department of Orthopaedics, Sundsvall and Härnösand County Hospital, Sundsvall, Sweden ; Department of Clinical Science, Intervention and Technology (CLINTEC), Karolinska Institutet, SE-141 86 Stockholm, Sweden.
Molecular Neurology Research Program, University of Helsinki and Folkhälsan Institute of Genetics, Helsinki, Finland ; Department of Biosciences and Nutrition, Karolinska Institutet, SE-141 83 Huddinge, Sweden.
出版信息
Scoliosis Spinal Disord. 2016 Nov 28;11:45. doi: 10.1186/s13013-016-0105-8. eCollection 2016.
Idiopathic scoliosis (IS), the most common spinal deformity, affects otherwise healthy children and adolescents during growth. The aetiology is still unknown, although genetic factors are believed to be important. The present review corroborates the understanding of IS as a complex disease with a polygenic background. Presumably IS can be due to a spectrum of genetic risk variants, ranging from very rare or even private to very common. The most promising candidate genes are highlighted.
特发性脊柱侧凸（IS）是最常见的脊柱畸形，影响生长发育过程中原本健康的儿童和青少年。尽管遗传因素被认为很重要，但其病因仍然不明。本综述证实了将IS理解为一种具有多基因背景的复杂疾病的观点。据推测，IS可能归因于一系列遗传风险变异，范围从非常罕见甚至是个体特有的到非常常见的。文中突出了最有前景的候选基因。
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