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Current Genomics

Editor-in-Chief

ISSN (Print): 1389-2029
ISSN (Online): 1875-5488

Understanding Genetic Factors in Idiopathic Scoliosis, a Complex Disease of Childhood

Author(s): Carol A. Wise, Xiaochong Gao, Scott Shoemaker, Derek Gordon and John A. Herring

Volume 9, Issue 1, 2008

Page: [51 - 59] Pages: 9

DOI: 10.2174/138920208783884874

Price: $65

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Abstract

Idiopathic scoliosis (AIS) is the most common pediatric spinal deformity, affecting ∼3% of children worldwide. AIS significantly impacts national health in the U. S. alone, creating disfigurement and disability for over 10% of patients and costing billions of dollars annually for treatment. Despite many investigations, the underlying etiology of IS is poorly understood. Twin studies and observations of familial aggregation reveal significant genetic contributions to IS. Several features of the disease including potentially strong genetic effects, the early onset of disease, and standardized diagnostic criteria make IS ideal for genomic approaches to finding risk factors. Here we comprehensively review the genetic contributions to IS and compare those findings to other well-described complex diseases such as Crohns disease, type 1 diabetes, psoriasis, and rheumatoid arthritis. We also summarize candidate gene studies and evaluate them in the context of possible disease aetiology. Finally, we provide study designs that apply emerging genomic technologies to this disease. Existing genetic data provide testable hypotheses regarding IS etiology, and also provide proof of principle for applying high-density genome-wide methods to finding susceptibility genes and disease modifiers.

Keywords: Scoliosis, genetics, inheritance, genome-wide association


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