Understanding genetic factors in idiopathic scoliosis, a complex disease of childhood

Carol A. Wise, Xiaochong Gao, Scott Shoemaker, Derek Gordon, John A. Herring

Research output: Contribution to journalArticle

45 Citations (Scopus)

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 Crohn's disease, type 1 diabetes, psoriasis, and rheumatoid arthritis. We also summarize candidate gene studies and evaluate them in the context of possible disease actiology. 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.

Original languageEnglish (US)
Pages (from-to)51-59
Number of pages9
JournalCurrent Genomics
Volume9
Issue number1
DOIs
StatePublished - Mar 2008

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Scoliosis
Modifier Genes
Twin Studies
Disease Susceptibility
Type 1 Diabetes Mellitus
Psoriasis
Crohn Disease
Rheumatoid Arthritis
Genome
Pediatrics
Technology
Health
Genes

Keywords

  • Genetics
  • Genome-wide association
  • Inheritance
  • Scoliosis

ASJC Scopus subject areas

  • Genetics

Cite this

Understanding genetic factors in idiopathic scoliosis, a complex disease of childhood. / Wise, Carol A.; Gao, Xiaochong; Shoemaker, Scott; Gordon, Derek; Herring, John A.

In: Current Genomics, Vol. 9, No. 1, 03.2008, p. 51-59.

Research output: Contribution to journalArticle

Wise, Carol A. ; Gao, Xiaochong ; Shoemaker, Scott ; Gordon, Derek ; Herring, John A. / Understanding genetic factors in idiopathic scoliosis, a complex disease of childhood. In: Current Genomics. 2008 ; Vol. 9, No. 1. pp. 51-59.
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