The genetic epidemiology of idiopathic scoliosisReport as inadecuate

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European Spine Journal

, Volume 21, Issue 10, pp 1905–1919

First Online: 14 June 2012Received: 02 December 2011Revised: 17 May 2012Accepted: 22 May 2012


PurposeIdiopathic scoliosis is a complex developmental syndrome defined by an abnormal structural curvature of the spine. High treatment costs, chronic pain-discomfort, and the need for monitoring at-risk individuals contribute to the global healthcare burden of this musculoskeletal disease. Although many studies have endeavored to identify underlying genes, little progress has been made in understanding the etiopathogenesis. The objective of this comprehensive review was to summarize genetic associations-linkages with idiopathic scoliosis, as well as explore the strengths and weaknesses of each study, such that it may serve as a guide for the design and interpretation of future genetic studies in scoliosis.

MethodsWe searched PubMed and Human Genome Epidemiology HuGE Navigator using the search terms -gene and scoliosis-. Linkage or association studies published in English and available full-text were further analyzed as regards results, experimental design, and statistical approach.

ResultsWe identified and analyzed 50 studies matching our criteria. These consisted of 34 candidate gene studies 6 linkage, 28 association and 16 genome-wide studies 14 pedigree-based linkage, 2 genome-wide association studies GWAS. Findings involved genes related to connective tissue structure, bone formation-metabolism, melatonin signaling pathways, puberty and growth, and axon guidance pathways. Variability in results between studies suggested ethnic and-or genetic heterogeneity.

ConclusionsThe major difficulty in idiopathic scoliosis research is phenotypic and genetic heterogeneity. Genetic research was overrepresented by underpowered studies. The use of biological endophenotypes, as well as restricted clinical definitions, may help to partition variation and increase the power of studies to detect or confirm an effect.

KeywordsGenetics Genes Epidemiology Idiopathic scoliosis Adolescent idiopathic scoliosis Spinal curvatures  Download fulltext PDF

Author: Kristen Fay Gorman - Cédric Julien - Alain Moreau


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