ReviewEuropean spine journal : official publication of the European Spine Society, the European Spinal Deformity Society, and the European Section of the Cervical Spine Research Society2012
The genetic epidemiology of idiopathic scoliosis.
Review in 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, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 57 papers, 5 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
57 citing papers in PubMed, 5 syntheses or guidelines pooled it, 128 citations in OpenAlex.
- Pooled it
- Association between polymorphisms in vitamin D receptor gene and adolescent idiopathic scoliosis: a meta-analysis.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 · 2018Pooled it
- Association between IGF1 gene single nucleotide polymorphism (rs5742612) and adolescent idiopathic scoliosis: a meta-analysis.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 · 2017Pooled it
- Association of IL-6 and MMP-3 gene polymorphisms with susceptibility to adolescent idiopathic scoliosis: a meta-analysis.Journal of genetics · 2016Pooled it
- How 'idiopathic' is adolescent idiopathic scoliosis? A systematic review on associated abnormalities.PloS one · 2014Pooled it
- Cancer risk among women with scoliosis: a nationwide danish register-based study.Spine deformity · 2026Observational
- Prevalence and Classification of Scoliosis Among Female University Students in Saudi Arabia.Healthcare (Basel, Switzerland) · 2025Article
- Hip Adduction Asymmetry in Girls with Adolescent Idiopathic Scoliosis.Journal of clinical medicine · 2025Article
- Genetic overlap between idiopathic scoliosis and schizophrenia in the general population.Spine deformity · 2025Article
- Prevalence and associated factors of multi-ethnic adolescent idiopathic scoliosis in Longlin, Southwestern China: a school-based cross-sectional study.Frontiers in public health · 2025Article
- Digitalized 3D Spinal Decompression and Correction Device Improved Initial Brace Corrections and Patients' Comfort Among Adolescents with Idiopathic Scoliosis: A Single-Centre, Single-Blinded Randomized Controlled Trial.Bioengineering (Basel, Switzerland) · 2024Article
- Preliminary Investigation into the Association between Scoliosis and Hypoxia: A Retrospective Cohort Study on the Impact of Eliminating Hypoxic Factors on Scoliosis Outcomes.Children (Basel, Switzerland) · 2024Article
- Correlation of radiographic parameters and patient satisfaction in adolescent idiopathic scoliosis treated with posterior screw-dual-rod instrumentation.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 · 2023Article
- Socioeconomic Factors Correlation With Idiopathic Scoliosis Curve Type and Cobb Angle Severity.Cureus · 2023Article
- Reliability and Validity of the Persian Version of the Body Image Disturbance Questionnaire-Scoliosis in Patients with Adolescent Idiopathic Scoliosis Who Did Not Have Surgical Indication.The archives of bone and joint surgery · 2023Article
- Knowledge mapping of idiopathic scoliosis genes and research hotspots (2002-2022): a bibliometric analysis.Frontiers in pediatrics · 2023Review
- Observational
- Sex differences in musculoskeletal injury and disease risks across the lifespan: Are there unique subsets of females at higher risk than males for these conditions at distinct stages of the life cycle?Frontiers in physiology · 2023Review
- Article
- Identification of FAT3 as a new candidate gene for adolescent idiopathic scoliosis.Scientific reports · 2022Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeIdiopathic scoliosis is a complex developmental syndrome defined by an abnormal structural curvature of the spine. High treatment costs, chronic pain/discomfort, and the need for monitoring at-risk individuals contribute to the global healthcare burden of this musculoskeletal disease. Although many studies have endeavored to identify underlying genes, little progress has been made in understanding the etiopathogenesis. The objective of this comprehensive review was to summarize genetic associations/linkages with idiopathic scoliosis, as well as explore the strengths and weaknesses of each study, such that it may serve as a guide for the design and interpretation of future genetic studies in scoliosis.
methodsWe searched PubMed and Human Genome Epidemiology (HuGE) Navigator using the search terms "gene and scoliosis". Linkage or association studies published in English and available full-text were further analyzed as regards results, experimental design, and statistical approach.
resultsWe identified and analyzed 50 studies matching our criteria. These consisted of 34 candidate gene studies (6 linkage, 28 association) and 16 genome-wide studies [14 pedigree-based linkage, 2 genome-wide association studies (GWAS)]. Findings involved genes related to connective tissue structure, bone formation/metabolism, melatonin signaling pathways, puberty and growth, and axon guidance pathways. Variability in results between studies suggested ethnic and/or genetic heterogeneity.
conclusionsThe major difficulty in idiopathic scoliosis research is phenotypic and genetic heterogeneity. Genetic research was overrepresented by underpowered studies. The use of biological endophenotypes, as well as restricted clinical definitions, may help to partition variation and increase the power of studies to detect or confirm an effect.
Indexed as
Identifiers
What OpenQuestion holds
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.