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European Spine Journal

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Open Access 01-10-2012 | Review Article

The genetic epidemiology of idiopathic scoliosis

Authors: Kristen Fay Gorman, Cédric Julien, Alain Moreau

Published in: European Spine Journal | Issue 10/2012

Abstract

Purpose

Idiopathic 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.

Methods

We 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.

Results

We 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.

Conclusions

The 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.

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Title: The genetic epidemiology of idiopathic scoliosis
Authors: Kristen Fay Gorman
Cédric Julien
Alain Moreau
Publication date: 01-10-2012
Publisher: Springer-Verlag
Published in: European Spine Journal / Issue 10/2012
Print ISSN: 0940-6719
Electronic ISSN: 1432-0932
DOI: https://doi.org/10.1007/s00586-012-2389-6

Keynote webinar | Spotlight on medication adherence

Springer Medicine

The genetic epidemiology of idiopathic scoliosis

Abstract

Purpose

Methods

Results

Conclusions

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Purpose

Methods

Results

Conclusions

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