ArticleHuman molecular genetics2014
Rare variants in FBN1 and FBN2 are associated with severe adolescent idiopathic scoliosis.
Article in Human molecular genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 78 papers, 1 of them a synthesis that pooled it.
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Who cites it
78 citing papers in PubMed, 1 synthesis or guideline pooled it, 129 citations in OpenAlex.
- 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
- Integrated transcriptomic and functional analysis reveals tissue-specific molecular pathology in adolescent idiopathic scoliosis.HGG advances · 2026Article
- Genetic interaction betweenResearch square · 2026Article
- Genetic interaction betweenbioRxiv : the preprint server for biology · 2026Article
- Integrated cardiac, endocrine, and genetic assessment in adolescent basketball players.Frontiers in endocrinology · 2026Article
- Article
- 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
- SpatialCVGAE: Consensus Clustering Improves Spatial Domain Identification of Spatial Transcriptomics Using VGAE.Interdisciplinary sciences, computational life sciences · 2025Article
- EPHA4 signaling dysregulation links abnormal locomotion and the development of idiopathic scoliosis.eLife · 2025Article
- Rare missense variants inJournal of medical genetics · 2025Article
- FBN2 promotes the proliferation, mineralization, and differentiation of osteoblasts to accelerate fracture healing.Scientific reports · 2025Article
- Genetics and pathogenesis of scoliosis.North American Spine Society journal · 2024Article
- 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
- Association between theGenes · 2024Article
- Dinucleotide composition representation -based deep learning to predict scoliosis-associated Fibrillin-1 genotypes.Frontiers in genetics · 2024Article
- The Role of Muscle Biomarkers in Adolescent Idiopathic Scoliosis.Journal of clinical medicine · 2023Review
- Impact of pathogenicJournal of medical genetics · 2023Article
18 more citing papers are in PubMed but not listed here.
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Authors and funding
17 authors at 6 institutions in 2 countries.
Funding
Abstract
Adolescent idiopathic scoliosis (AIS) causes spinal deformity in 3% of children. Despite a strong genetic basis, few genes have been associated with AIS and the pathogenesis remains poorly understood. In a genome-wide rare variant burden analysis using exome sequence data, we identified fibrillin-1 (FBN1) as the most significantly associated gene with AIS. Based on these results, FBN1 and a related gene, fibrillin-2 (FBN2), were sequenced in a total of 852 AIS cases and 669 controls. In individuals of European ancestry, rare variants in FBN1 and FBN2 were enriched in severely affected AIS cases (7.6%) compared with in-house controls (2.4%) (OR = 3.5, P = 5.46 × 10(-4)) and Exome Sequencing Project controls (2.3%) (OR = 3.5, P = 1.48 × 10(-6)). Scoliosis severity in AIS cases was associated with FBN1 and FBN2 rare variants (P = 0.0012) and replicated in an independent Han Chinese cohort (P = 0.0376), suggesting that rare variants may be useful as predictors of curve progression. Clinical evaluations revealed that the majority of AIS cases with rare FBN1 variants do not meet diagnostic criteria for Marfan syndrome, though variants are associated with tall stature (P = 0.0035) and upregulation of the transforming growth factor beta pathway. Overall, these results expand our definition of fibrillin-related disorders to include AIS and open up new strategies for diagnosing and treating severe 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.