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Are Copy Number Variants Associated With Adolescent Idiopathic Scoliosis?

  • Basic Research
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Clinical Orthopaedics and Related Research®

A CORR Insights to this article was published on 29 July 2014



Adolescent idiopathic scoliosis (AIS) is a complex genetic disorder that causes spinal deformity in approximately 3% of the population. Candidate gene, linkage, and genome-wide association studies have sought to identify genetic variation that predisposes individuals to AIS, but the genetic basis remains unclear. Copy number variants are associated with several isolated skeletal phenotypes, but their role in AIS, to our knowledge, has not been assessed.


We determined the frequency of recurrent copy number rearrangements, chromosome aneuploidy, and rare copy number variants in patients with AIS.


Between January 2010 and August 2014, we evaluated 150 patients with isolated AIS and spinal curvatures measuring 10° or greater, and 148 agreed to participate. Genomic copy number analysis was performed on patients and 1079 control subjects using the Affymetrix® Genome-wide Human SNP Array 6.0. After removing poor quality samples, 143 (97%) patients with AIS were evaluated for copy number variation.


We identified a duplication of chromosome 1q21.1 in 2.1% (N = 3/143) of patients with AIS, which was enriched compared with 0.09% (N = 1/1079) of control subjects (p = 0.0057) and 0.07% (N = 6/8329) of a large published control cohort (p = 0.0004). Other notable findings include trisomy X, which was identified in 1.8% (N = 2/114) of female patients with AIS, and rearrangements of chromosome 15q11.2 and 16p11.2 that previously have been associated with spinal phenotypes. Finally, we report rare copy number variants that will be useful in future studies investigating candidate genes for AIS.


Copy number variation and chromosomal aneuploidy may contribute to the pathogenesis of adolescent idiopathic scoliosis.

Clinical Relevance

Chromosomal microarray may reveal clinically useful abnormalities in some patients with AIS.

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We thank Drs. Keith Bridwell, Lawrence Lenke, and Scott Luhmann for allowing us to recruit patients from their clinics. We thank the patients and their families for their role in this work. The Genome Technology Access Center in the Department of Genetics at Washington University School of Medicine processed the microarrays. The Center is partially supported by NCI Cancer Center Support Grant #P30 CA91842 to the Siteman Cancer Center and by ICTS/CTSA Grant #UL1RR024992 from the National Center for Research Resources (NCRR), a component of the NIH, and NIH Roadmap for Medical Research. The control dataset used for the analysis described in this manuscript was obtained from the database of Genotype and Phenotype (dbGaP) ( through dbGaP accession number phs000017.v3.p1. Data for control samples were provided by John R Kelsoe and John Nurnberger as part of the NIMH Bipolar Genetics Collaborative. Control samples were genotyped through the Genetic Association Information Network (GAIN). This publication is solely the responsibility of the authors and does not necessarily represent the official view of NCRR or NIH.

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Correspondence to Christina A. Gurnett MD, PhD.

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Funding for this project was provided by National Institutes of Health (NIH, K12 HD001459-08), Shriners Hospital for Children, and the Children’s Discovery Institute of Washington University, and St. Louis Children’s Hospital.

Dr. Dobbs is a Senior Editor for Clinical Orthopaedics and Related Research.

The authors report no other conflicts of interest.

All ICMJE Conflict of Interest Forms for authors and Clinical Orthopaedics and Related Research editors and board members are on file with the publication and can be viewed on request.

Each author certifies that his or her institution approved the human protocol for this investigation, that all investigations were conducted in conformity with ethical principles of research, and that informed consent for participation in the study was obtained.

This work was performed at Washington University School of Medicine.

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Buchan, J.G., Alvarado, D.M., Haller, G. et al. Are Copy Number Variants Associated With Adolescent Idiopathic Scoliosis?. Clin Orthop Relat Res 472, 3216–3225 (2014).

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