SynthesisNature communications2019
Genome-wide association study identifies 14 previously unreported susceptibility loci for adolescent idiopathic scoliosis in Japanese.
Synthesis in Nature communications, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 54 papers, 3 of them syntheses that pooled it.
What it found
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
54 citing papers in PubMed, 3 syntheses or guidelines pooled it, 92 citations in OpenAlex.
- Genetic study identifies novel genes in developmental dysplasia of the hip.Bone research · 2026Pooled it
- 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
- 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
- Yap1 regulates motility and vertebral development and prevents kyphoscoliosis in zebrafish.PLoS genetics · 2026Article
- Genetic interaction betweenbioRxiv : the preprint server for biology · 2026Article
- Genetic interaction betweenResearch square · 2026Article
- Deep learning-based precision phenotyping of spine curvature identifies novel genetic risk loci for scoliosis in the UK Biobank.NPJ digital medicine · 2026Article
- Height estimation using forearm and lower leg lengths in healthy young individuals.Journal of physical therapy science · 2026Article
- Clinical and genetic evidence from East Asian cohorts linking family history burden and menarche timing to curve severity in adolescent idiopathic scoliosis.Frontiers in endocrinology · 2026Article
- Causal neurodevelopmental origins of scoliosis: Multi-omics Mendelian randomization reveals brain-region-specific pathways and protein mediators.Journal of orthopaedic translation · 2026Article
- Integrating intrinsic musculoskeletal pathology and genetics: Recent advances in unravelling the causative factors of adolescent idiopathic scoliosis.Bone reports · 2025Review
- Oxidative stress-induced intervertebral disc remodelling and elevated stiffness drive idiopathic scoliosis in preclinical models.Nature communications · 2025Article
- The importance of imperfect pre-clinical models in adolescent idiopathic scoliosis.Disease models & mechanisms · 2025Review
- EPHA4 signaling dysregulation links abnormal locomotion and the development of idiopathic scoliosis.eLife · 2025Article
- Rare missense variants inJournal of medical genetics · 2025Article
- Genetic overlap between idiopathic scoliosis and schizophrenia in the general population.Spine deformity · 2025Article
- Behavioral effects of academic pressure on the risk of adolescent idiopathic scoliosis: a case-control study.Scientific reports · 2025Article
Corrections and comments
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Authors and funding
47 authors at 19 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Adolescent idiopathic scoliosis (AIS) is the most common pediatric spinal deformity. Several AIS susceptibility loci have been identified; however, they could explain only a small proportion of AIS heritability. To identify additional AIS susceptibility loci, we conduct a meta-analysis of the three genome-wide association studies consisting of 79,211 Japanese individuals. We identify 20 loci significantly associated with AIS, including 14 previously not reported loci. These loci explain 4.6% of the phenotypic variance of AIS. We find 21 cis-expression quantitative trait loci-associated genes in seven of the fourteen loci. By a female meta-analysis, we identify additional three significant loci. We also find significant genetic correlations of AIS with body mass index and uric acid. The cell-type specificity analyses show the significant heritability enrichment for AIS in multiple cell-type groups, suggesting the heterogeneity of etiology and pathogenesis of AIS. Our findings provide insights into etiology and pathogenesis of AIS.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.