SynthesisHuman molecular genetics2018
Genome-wide meta-analysis and replication studies in multiple ethnicities identify novel adolescent idiopathic scoliosis susceptibility loci.
Synthesis in Human molecular genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers, 2 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
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
33 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Evidence of causality of low body mass index on risk of adolescent idiopathic scoliosis: a Mendelian randomization study.Frontiers in endocrinology · 2023Pooled it
- Genome-wide association study identifies 14 previously unreported susceptibility loci for adolescent idiopathic scoliosis in Japanese.Nature communications · 2019Pooled 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
- FLNB and TTC26 regulate ciliary Hedgehog signaling to maintain intervertebral disc matrix homeostasis in adolescent idiopathic scoliosis.Genome biology · 2026Article
- Yap1 regulates motility and vertebral development and prevents kyphoscoliosis in zebrafish.PLoS genetics · 2026Article
- Genetic interaction betweenResearch square · 2026Article
- Genetic interaction betweenbioRxiv : the preprint server for biology · 2026Article
- Deep learning-based precision phenotyping of spine curvature identifies novel genetic risk loci for scoliosis in the UK Biobank.NPJ digital medicine · 2026Article
- Causal neurodevelopmental origins of scoliosis: Multi-omics Mendelian randomization reveals brain-region-specific pathways and protein mediators.Journal of orthopaedic translation · 2026Article
- Pathogenic mechanisms of adult degenerative scoliosis.Frontiers in cell and developmental biology · 2026Review
- Whole genome sequencing in adolescent idiopathic scoliosis cohort implicates multiple biological pathways.NPJ genomic medicine · 2025Article
- The importance of imperfect pre-clinical models in adolescent idiopathic scoliosis.Disease models & mechanisms · 2025Review
- Genetic overlap between idiopathic scoliosis and schizophrenia in the general population.Spine deformity · 2025Article
- Association of IL‑6 and MMP‑3 gene polymorphisms with adolescent idiopathic scoliosis: A systematic review and meta‑analysis.Experimental and therapeutic medicine · 2024Article
- Deletion of Pax1 scoliosis-associated regulatory elements leads to a female-biased tail abnormality.Cell reports · 2024Article
- Association of genetic variation ineLife · 2024Article
- SOX9 gene shows association with adolescent idiopathic scoliosis predisposition in Northwest Indians.European journal of medical research · 2024Article
- Impaired glycine neurotransmission causes adolescent idiopathic scoliosis.The Journal of clinical investigation · 2024Article
Corrections and comments
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Authors and funding
26 authors.
Funding
Abstract
Adolescent idiopathic scoliosis (AIS) is the most common musculoskeletal disorder of childhood development. The genetic architecture of AIS is complex, and the great majority of risk factors are undiscovered. To identify new AIS susceptibility loci, we conducted the first genome-wide meta-analysis of AIS genome-wide association studies, including 7956 cases and 88 459 controls from 3 ancestral groups. Three novel loci that surpassed genome-wide significance were uncovered in intragenic regions of the CDH13 (P-value_rs4513093 = 1.7E-15), ABO (P-value_ rs687621 = 7.3E-10) and SOX6 (P-value_rs1455114 = 2.98E-08) genes. Restricting the analysis to females improved the associations at multiple loci, most notably with variants within CDH13 despite the reduction in sample size. Genome-wide gene-functional enrichment analysis identified significant perturbation of pathways involving cartilage and connective tissue development. Expression of both SOX6 and CDH13 was detected in cartilage chondrocytes and chromatin immunoprecipitation sequencing experiments in that tissue revealed multiple HeK27ac-positive peaks overlapping associated loci. Our results further define the genetic architecture of AIS and highlight the importance of vertebral cartilage development in its pathogenesis.
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Registered trials
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.