ArticleNature communications2015
A PAX1 enhancer locus is associated with susceptibility to idiopathic scoliosis in females.
Article in Nature communications, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 82 papers, 4 of them syntheses that pooled it.
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Who cites it
82 citing papers in PubMed, 4 syntheses or guidelines pooled it, 153 citations in OpenAlex.
- Genome-wide association study identifies 14 previously unreported susceptibility loci for adolescent idiopathic scoliosis in Japanese.Nature communications · 2019Pooled it
- A multiethnic meta-analysis defined the association of rs12946942 with severe adolescent idiopathic scoliosis.Journal of human genetics · 2019Pooled it
- Genome-wide meta-analysis and replication studies in multiple ethnicities identify novel adolescent idiopathic scoliosis susceptibility loci.Human molecular genetics · 2018Pooled it
- An international meta-analysis confirms the association of BNC2 with adolescent idiopathic scoliosis.Scientific reports · 2018Pooled 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
- Principles Underlying Surgical Decision-Making in Lowest-Instrumented Vertebra Level Selection of Adolescent Idiopathic Scoliosis: From Traditional Landmarks to Emerging Predictive Models-A Narrative Review.Journal of clinical medicine · 2026Review
- ESR1 as a candidate gene for adolescent idiopathic scoliosis pathogenesis in North-West Indian population.European spine journal : official publication of the European Spine Society, the European Spinal Deformity Society, and the European Section of the Cervical Spine Research Society · 2026Article
- Deletion of aJOR spine · 2026Article
- Deep learning-based precision phenotyping of spine curvature identifies novel genetic risk loci for scoliosis in the UK Biobank.NPJ digital medicine · 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
- Integrating intrinsic musculoskeletal pathology and genetics: Recent advances in unravelling the causative factors of adolescent idiopathic scoliosis.Bone reports · 2025Review
- 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
- Rare missense variants inJournal of medical genetics · 2025Article
- Positive rate and influencing factors of adolescent idiopathic scoliosis among school children aged 9 to 18 years in Xiamen, China.BMC pediatrics · 2025Article
- Genetics and pathogenesis of scoliosis.North American Spine Society journal · 2024Article
- Are osteoblasts multiple cell types? A new diversity in skeletal stem cells and their derivatives.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2024Review
- Rare variant association analyses reveal the significant contribution of carbohydrate metabolic disturbance in severe adolescent idiopathic scoliosis.Journal of medical genetics · 2024Article
- Identification of Epigenetic Biomarkers of Adolescent Idiopathic Scoliosis Progression: A Workflow to Assess Local Gene Expression.International journal of molecular sciences · 2024Article
22 more citing papers are in PubMed but not listed here.
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Authors and funding
20 authors at 20 institutions in 3 countries.
Funding
Abstract
Idiopathic scoliosis (IS) is a common paediatric musculoskeletal disease that displays a strong female bias. By performing a genome-wide association study (GWAS) of 3,102 individuals, we identify significant associations with 20p11.22 SNPs for females (P=6.89 × 10(-9)) but not males (P=0.71). This association with IS is also found in independent female cohorts from the United States of America and Japan (overall P=2.15 × 10(-10), OR=1.30 (rs6137473)). Unexpectedly, the 20p11.22 IS risk alleles were previously associated with protection from early-onset alopecia, another sexually dimorphic condition. The 174-kb associated locus is distal to PAX1, which encodes paired box 1, a transcription factor involved in spine development. We identify a sequence in the associated locus with enhancer activity in zebrafish somitic muscle and spinal cord, an activity that is abolished by IS-associated SNPs. We thus identify a sexually dimorphic IS susceptibility locus, and propose the first functionally defined candidate mutations in an enhancer that may regulate expression in specific spinal cells.
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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.