ArticleHuman molecular genetics2011
Genome-wide association studies of adolescent idiopathic scoliosis suggest candidate susceptibility genes.
Article in Human molecular genetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 99 papers, 6 of them syntheses that pooled it.
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Who cites it
99 citing papers in PubMed, 6 syntheses or guidelines pooled it, 198 citations in OpenAlex.
- Evidence of causality of low body mass index on risk of adolescent idiopathic scoliosis: a Mendelian randomization study.Frontiers in endocrinology · 2023Pooled it
- Exploring the association between specific genes and the onset of idiopathic scoliosis: a systematic review.BMC medical genomics · 2022Pooled it
- Pooled it
- Genome-wide meta-analysis and replication studies in multiple ethnicities identify novel adolescent idiopathic scoliosis susceptibility loci.Human molecular genetics · 2018Pooled it
- Associations of LBX1 gene and adolescent idiopathic scoliosis susceptibility: a meta-analysis based on 34,626 subjects.BMC musculoskeletal disorders · 2016Pooled it
- Genetic variants in GPR126 are associated with adolescent idiopathic scoliosis.Nature genetics · 2013Pooled it
- Massively parallel characterization of adolescent idiopathic scoliosis risk variants.Genome research · 2026Article
- Non-coding regulatory variants in adolescent idiopathic scoliosis risk and pathogenesis.Communications biology · 2026Review
- Integrated transcriptomic and functional analysis reveals tissue-specific molecular pathology in adolescent idiopathic scoliosis.HGG advances · 2026Article
- Deletion of aJOR spine · 2026Article
- Circulating microRNA signatures for diagnosis and prediction of curve progression in pediatric patients with idiopathic scoliosis.Journal of orthopaedic surgery and research · 2026Article
- Pathogenic mechanisms of adult degenerative scoliosis.Frontiers in cell and developmental biology · 2026Review
- The Role of Serum Albumin as a Prognostic Marker in Guillain-Barré Syndrome: A Systematic Review.Journal of inflammation research · 2026Review
- The Association of IL-17RC Polymorphisms rs708567 and rs76999397 With Acute Lymphoblastic Leukaemia.International journal of immunogenetics · 2025Article
- Whole genome sequencing in adolescent idiopathic scoliosis cohort implicates multiple biological pathways.NPJ genomic medicine · 2025Article
- Assessment and Management of Adolescent Idiopathic Scoliosis: From the Perspective of a Physiatrist.Annals of rehabilitation medicine · 2025Article
- Genetics and pathogenesis of scoliosis.North American Spine Society journal · 2024Article
- Association of IL‑6 and MMP‑3 gene polymorphisms with adolescent idiopathic scoliosis: A systematic review and meta‑analysis.Experimental and therapeutic medicine · 2024Article
- Gut Microbiota Alterations in Adolescent Idiopathic Scoliosis Are Associated with Aberrant Bone Homeostasis.Orthopaedic surgery · 2024Article
- Deletion of Pax1 scoliosis-associated regulatory elements leads to a female-biased tail abnormality.Cell reports · 2024Article
39 more citing papers are in PubMed but not listed here.
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Authors and funding
17 authors at 7 institutions in 1 country.
Funding
Abstract
Adolescent idiopathic scoliosis (AIS) is an unexplained and common spinal deformity seen in otherwise healthy children. Its pathophysiology is poorly understood despite intensive investigation. Although genetic underpinnings are clear, replicated susceptibility loci that could provide insight into etiology have not been forthcoming. To address these issues, we performed genome-wide association studies (GWAS) of ∼327 000 single nucleotide polymorphisms (SNPs) in 419 AIS families. We found strongest evidence of association with chromosome 3p26.3 SNPs in the proximity of the CHL1 gene (P < 8 × 10(-8) for rs1400180). We genotyped additional chromosome 3p26.3 SNPs and tested replication in two follow-up case-control cohorts, obtaining strongest results when all three cohorts were combined (rs10510181 odds ratio = 1.49, 95% confidence interval = 1.29-1.73, P = 2.58 × 10(-8)), but these were not confirmed in a separate GWAS. CHL1 is of interest, as it encodes an axon guidance protein related to Robo3. Mutations in the Robo3 protein cause horizontal gaze palsy with progressive scoliosis (HGPPS), a rare disease marked by severe scoliosis. Other top associations in our GWAS were with SNPs in the DSCAM gene encoding an axon guidance protein in the same structural class with Chl1 and Robo3. We additionally found AIS associations with loci in CNTNAP2, supporting a previous study linking this gene with AIS. Cntnap2 is also of functional interest, as it interacts directly with L1 and Robo class proteins and participates in axon pathfinding. Our results suggest the relevance of axon guidance pathways in AIS susceptibility, although these findings require further study, particularly given the apparent genetic heterogeneity in this disease.
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