ArticleAnnals of neurology2018
Long-range genomic regulators of THBS1 and LTBP4 modify disease severity in duchenne muscular dystrophy.
Article in Annals of neurology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 35 papers.
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Who cites it
35 citing papers in PubMed, 53 citations in OpenAlex.
- Gene x environment interaction analysis confirms genetic modifier effects on steroid efficacy via TGF-β pathway in Duchenne muscular dystrophy.European journal of human genetics : EJHG · 2026Article
- Dystrophin isoform deficiency and upper-limb and respiratory function in Duchenne muscular dystrophy.Developmental medicine and child neurology · 2025Article
- Incidental finding of aFrontiers in pediatrics · 2025Article
- Thrombospondins: Conserved mediators and modulators of metazoan extracellular matrix.International journal of experimental pathology · 2024Review
- Draft Guidance for Industry Duchenne Muscular Dystrophy, Becker Muscular Dystrophy, and Related Dystrophinopathies - Developing Potential Treatments for the Entire Spectrum of Disease.Journal of neuromuscular diseases · 2024Article
- The complex landscape of DMD mutations: moving towards personalized medicine.Frontiers in genetics · 2024Review
- Latent transforming growth factor beta binding protein 4: A regulator of mitochondrial function in acute kidney injury.Aging cell · 2023Review
- Association between neurodevelopmental impairments and motor function in Duchenne muscular dystrophy.Annals of clinical and translational neurology · 2023Article
- Is it time for genetic modifiers to predict prognosis in Duchenne muscular dystrophy?Nature reviews. Neurology · 2023Review
- A genome-wide association analysis of loss of ambulation in dystrophinopathy patients suggests multiple candidate modifiers of disease severity.European journal of human genetics : EJHG · 2023Article
- Biomarkers in Duchenne Muscular Dystrophy: Current Status and Future Directions.Journal of neuromuscular diseases · 2023Review
- Transcriptomic analysis of paired healthy human skeletal muscles to identify modulators of disease severity in DMD.Frontiers in genetics · 2023Article
- Evaluating Genetic Modifiers of Duchenne Muscular Dystrophy Disease Progression Using Modeling and MRI.Neurology · 2022Article
- Mineralocorticoid receptor antagonists and glucocorticoids differentially affect skeletal muscle inflammation and pathology in muscular dystrophy.JCI insight · 2022Article
- Genetic modifiers of upper limb function in Duchenne muscular dystrophy.Journal of neurology · 2022Article
- Article
- Novel Exon-Skipping Therapeutic Approach for the DMD Gene Based on Asymptomatic Deletions of Exon 49.Genes · 2022Article
- Automated immunofluorescence analysis for sensitive and precise dystrophin quantification in muscle biopsies.Neuropathology and applied neurobiology · 2022Article
- Phenotypic Spectrum of Dystrophinopathy Due to Duchenne Muscular Dystrophy Exon 2 Duplications.Neurology · 2022Observational
- Review
Corrections and comments
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Authors and funding
6 authors at 3 institutions in 1 country.
Funding
Abstract
objectiveDuchenne muscular dystrophy (DMD) is a severe X-linked recessive disease caused by loss-of-function dystrophin (DMD) mutations in boys, who typically suffer loss of ambulation by age 12. Previously, we reported that coding variants in latent transforming growth factor beta (TGFβ)-binding protein 4 (LTBP4) were associated with reduced TGFβ signaling and prolonged ambulation (p = 1.0 × 10
methodsWe performed a genome-wide association study (GWAS) for single-nucleotide polymorphisms (SNPs) influencing loss of ambulation (LOA) in the same cohort of 253 DMD patients used to detect the candidate association with LTBP4 coding variants. Gene expression and chromatin interaction databases were used to fine-map association signals above the threshold for genome-wide significance.
resultsDespite the small sample size, two loci associated with prolonged ambulation met genome-wide significance and were tagged by rs2725797 (chr15, p = 6.6 × 10
interpretationTogether with previous evidence implicating LTBP4, the THBS1 modifier locus emphasizes the role that common regulatory variants in gene interaction networks can play in mitigating disease progression in muscular dystrophy. Ann Neurol 2018;84:234-245.
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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.