ArticleClinical orthopaedics and related research2014
Are copy number variants associated with adolescent idiopathic scoliosis?
Article in Clinical orthopaedics and related research, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers, 2 of them syntheses that pooled it.
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Who cites it
12 citing papers in PubMed, 2 syntheses or guidelines pooled it, 22 citations in OpenAlex.
- Exploring the association between specific genes and the onset of idiopathic scoliosis: a systematic review.BMC medical genomics · 2022Pooled it
- Genome-wide meta-analysis and replication studies in multiple ethnicities identify novel adolescent idiopathic scoliosis susceptibility loci.Human molecular genetics · 2018Pooled it
- Comprehensive genetic screening of 70 severe adolescent idiopathic scoliosis probands reveals novel pathogenic variants and syndromic associations.Frontiers in medicine · 2025Article
- The pleiotropic spectrum of proximal 16p11.2 CNVs.American journal of human genetics · 2024Review
- Identification of Copy Number Variants in a Southern Chinese Cohort of Patients with Congenital Scoliosis.Genes · 2021Article
- The role of 22q11.2 deletion syndrome in the relationship between congenital heart disease and scoliosis.The spine journal : official journal of the North American Spine Society · 2020Article
- Exome sequencing analysis identifies frequent oligogenic involvement andJournal of medical genetics · 2020Article
- Distal chromosome 16p11.2 duplications containingJournal of medical genetics · 2019Article
- Whole-Genome Methylation Analysis of Phenotype Discordant Monozygotic Twins Reveals Novel Epigenetic Perturbation Contributing to the Pathogenesis of Adolescent Idiopathic Scoliosis.Frontiers in bioengineering and biotechnology · 2019Article
- A missense variant in SLC39A8 is associated with severe idiopathic scoliosis.Nature communications · 2018Article
- Genetics and pathogenesis of idiopathic scoliosis.Scoliosis and spinal disorders · 2016Review
- Genetics of adolescent idiopathic scoliosis in the post-genome-wide association study era.Annals of translational medicine · 2015Article
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7 authors at 2 institutions in 1 country.
Funding
Abstract
backgroundAdolescent 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. QUESTIONS/PURPOSES: We determined the frequency of recurrent copy number rearrangements, chromosome aneuploidy, and rare copy number variants in patients with AIS.
methodsBetween 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.
resultsWe 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.
conclusionsCopy 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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