ArticleNPJ genomic medicine2025
Whole genome sequencing in adolescent idiopathic scoliosis cohort implicates multiple biological pathways.
Article in NPJ genomic medicine, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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
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Who cites it
6 citing papers in PubMed.
- Massively parallel characterization of adolescent idiopathic scoliosis risk variants.Genome research · 2026Article
- Fetal Pathogenesis of Scoliosis Suggested by Asymmetry of Gene Expression in Paravertebral Muscles.JOR spine · 2026Article
- BNC2 in Development and Disease: Regulatory Mechanisms and Translational Implications.Molecules (Basel, Switzerland) · 2026Review
- 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
Corrections and comments
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Authors and funding
9 authors.
Funding
Abstract
Adolescent idiopathic scoliosis (AIS) is a complex genetic disorder. This study used whole-genome sequencing (WGS) to investigate the genetic basis of AIS in 119 patients from 103 families. Our WGS analysis identified known pathogenic or protein-truncating variants in 15 probands, and other strong or moderate candidate variants in 69 additional patients. We found both coding and non-coding mutations, including structural variants. Candidate genes included known AIS genes (e.g., COL11A2, FBN1) and genes linked to other musculoskeletal disorders with scoliosis (e.g., RYR1). Association analysis confirmed four known AIS single-nucleotide polymorphisms in our cohort. Gene set enrichment analysis revealed four gene clusters related to skeletal muscle contraction, extracellular matrix, and gene expression regulation. This WGS-based approach identified clinically relevant genetic variations and biological pathways in AIS patients, offering valuable insights into its complex development.
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Registered trials
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