Genetics of Idiopathic Scoliosis

Abstract

Genetic approaches to complex diseases are subject to the currently available technological innovations, and successes or failures using these approaches influence our hypotheses for the genetic contributions to complex diseases. Common complex diseases with a genetic contribution result in the bulk of healthcare expenses through chronic care. It is thought that an understanding of the genetic contributions to common complex diseases will allow for advances in disease prevention, mitigation of disease pathogenesis and curative treatments. The authors discuss genetic approaches to complex diseases from the perspective of idiopathic scoliosis, a prevalent vertebral deformity syndrome that involves the integration of clinical, psychological, mechanical, and basic science disciplines. The authors focus specifically on the different hypotheses and approaches for genetic study, drawing on past studies and discussing possible future studies, with consideration of technological innovations.

Key Concepts:

  • The genetic basis of idiopathic scoliosis is not well understood.

  • Idiopathic scoliosis is a complex deformity syndrome with a complex genetic component.

  • Idiopathic scoliosis is the most common form of human spinal deformity.

  • IS imposes a substantial healthcare cost through bracing, hospitalisations, surgery and chronic back pain.

  • Identification of IS genes might lead to innovations in screening and treatment.

Keywords: complex; idiopathic; scoliosis; genetic; disease; association; Mendelian; pedigree; GWAS

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Gorman, Kristen F, Julien, Cedric, Oliazadeh, Niaz, Tang, Qilin, and Moreau, Alain(Jan 2014) Genetics of Idiopathic Scoliosis. In: eLS. John Wiley & Sons Ltd, Chichester. http://www.els.net [doi: 10.1002/9780470015902.a0025313]