ArticleBMC musculoskeletal disorders2018
Abnormal PITX1 gene methylation in adolescent idiopathic scoliosis: a pilot study.
Article in BMC musculoskeletal disorders, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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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.
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Who cites it
20 citing papers in PubMed, 29 citations in OpenAlex.
- Fibroblast proliferative capacity predicts prognosis in idiopathic pulmonary fibrosis and identifies PITX1 as a growth-associated gene.Sarcoidosis, vasculitis, and diffuse lung diseases : official journal of WASOG · 2026Article
- LBX1, ESR1, and ESR2 genes DNA methylation level in idiopathic scoliosis.Scientific reports · 2025Article
- Local Expression of Epigenetic Candidate Biomarkers of Adolescent Idiopathic Scoliosis Progression.International journal of molecular sciences · 2025Article
- Genome-wide profiling of circulating microRNAs in adolescent idiopathic scoliosis and their relation to spinal deformity severity, and disease pathophysiology.Scientific reports · 2025Article
- Scoliosis as a Paradigm of Pathological Spinal Curvature: Molecular Mechanisms and Imaging Innovations : Molecular and Imaging Insights in Scoliosis.Galen medical journal · 2025Review
- Genetics and pathogenesis of scoliosis.North American Spine Society journal · 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
- Identification of Epigenetic Biomarkers of Adolescent Idiopathic Scoliosis Progression: A Workflow to Assess Local Gene Expression.International journal of molecular sciences · 2024Article
- Advances in genetic factors of adolescent idiopathic scoliosis: a bibliometric analysis.Frontiers in pediatrics · 2023Review
- Advances in epigenetic research of adolescent idiopathic scoliosis and congenital scoliosis.Frontiers in genetics · 2023Review
- Article
- Abnormal TNS3 gene methylation in patients with congenital scoliosis.BMC musculoskeletal disorders · 2022Article
- Upregulation of microRNA-96-5p is associated with adolescent idiopathic scoliosis and low bone mass phenotype.Scientific reports · 2022Article
- Epigenetic and Genetic Factors Related to Curve Progression in Adolescent Idiopathic Scoliosis: A Systematic Scoping Review of the Current Literature.International journal of molecular sciences · 2022Article
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- Article
- Upregulated Transcription Factor PITX1 Predicts Poor Prognosis in Kidney Renal Clear Cell Carcinoma-Based Bioinformatic Analysis and Experimental Verification.Disease markers · 2021Article
- Methylation of estrogen receptor 2 (ESR2) in deep paravertebral muscles and its association with idiopathic scoliosis.Scientific reports · 2020Article
- The construction of the scoliosis 3D finite element model and the biomechanical analysis of PVCR orthopaedy.Saudi journal of biological sciences · 2020Article
- Whole-Genome Methylation Analysis of Phenotype Discordant Monozygotic Twins Reveals Novel Epigenetic Perturbation Contributing to the Pathogenesis of Adolescent Idiopathic Scoliosis.Frontiers in bioengineering and biotechnology · 2019Article
Corrections and comments
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Authors and funding
8 authors at 1 institution in 1 country.
Funding
Abstract
backgroundThe gene of pituitary homeobox 1 (PITX1) has been reported to be down-regulated in adolescent idiopathic scoliosis (AIS), of which the cause has not been well addressed. The abnormal DNA methylation was recently assumed to be an important mechanism for the down-regulated genes expression. However, the association between PITX1 promoter methylation and the etiology of AIS was not clear.
methodsThe peripheral blood samples of 50 AIS patients and 50 healthy controls were collected and the genomic DNA was extracted. The pyrosequencing assay was used to assess the methylation status of PITX1 promoter and real-time quantitative polymerase chain reaction (PCR) was used to detect the PITX1 gene expression. Comparison analysis was performed using independent t test and Chi-square tests, while correlation analysis were performed with 2-tailed Pearson coefficients.
resultsThe mean methylation level was (3.52 ± 0.96)% in AIS and (1.40 ± 0.81)% in healthy controls (P < 0.0001). The PITX1 gene expression was 0.15 ± 0.08 in AIS and 0.80 ± 0.55 in healthy controls (P < 0.0001). The comparative analysis showed significant difference in age (P = 0.021) and Cobb angle of the main curve (P = 0.0001) between AIS groups with positive and negative methylation. The methylation level of 6 CpG sites in PITX1 promoters was significantly associated with Cobb angle of the main curve (P < 0.001) in AIS. No statistical relationship between PITX1 promoter methylation and gene expression was found in AIS (P = 0.842).
conclusionSignificantly higher methylation level and lower PITX1 gene expression are found in AIS patients. PITX1 methylation is associated with Cobb angles of the main curves in AIS. DNA methylation thus plays an important role in the etiology and curve progression in 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.