ArticleHeart rhythm2012
Genetic variation in the alternative splicing regulator RBM20 is associated with dilated cardiomyopathy.
Article in Heart rhythm, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT02045043 (Genetic Risk Assessment of Defibrillator Events), which is not on this map. Cited by 102 papers, 1 of them a synthesis that pooled it.
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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
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.
Genetic Risk Assessment of Defibrillator Events: A Prospective Multicenter Observational Study
Who cites it
102 citing papers in PubMed, 1 synthesis or guideline pooled it, 170 citations in OpenAlex.
- Clinical Insights in RNA-Binding Protein Motif 20 Cardiomyopathy: A Systematic Review.Biomolecules · 2024Pooled it
- RBM20 variants disrupt CaSignal transduction and targeted therapy · 2026Article
- Review
- Forces that shape the transcriptome: Linking cellular mechanosensing to mRNA splicing.The Journal of biological chemistry · 2026Review
- Emerging Mechanisms and Therapeutic Strategies in Dilated Cardiomyopathy.Biomedicines · 2026Review
- Sex- and Exercise-Dependent Modulation of Hypertrophic Remodeling by the MCT1 rs1049434 Polymorphism.Genes · 2026Article
- Prime editing corrects the dilated cardiomyopathy causing RBM20-P633L-mutation in human cardiomyocytes.Molecular therapy. Nucleic acids · 2025Article
- RNA binding protein RBM20 regulates turtle temperature-dependent sex determination by repressing the splicing ofScience advances · 2025Article
- Novel Genetic Variants Associated with Diabetic Neuropathy Risk in Type 2 Diabetes: A Whole-Exome Sequencing Approach.International journal of molecular sciences · 2025Article
- Article
- Integrated proteomics and transcriptomics analysis reveals insights into differences in premature mortality associated with disparate pathogenic RBM20 variants.Journal of molecular and cellular cardiology · 2024Article
- Nascent transcript O-MAP reveals the molecular architecture of a single-locus subnuclear compartment built by RBM20 and thebioRxiv : the preprint server for biology · 2024Article
- Review
- Systematic identification of interchromosomal interaction networks supports the existence of specialized RNA factories.Genome research · 2024Article
- Article
- Risk Assessment and Personalized Treatment Options in Inherited Dilated Cardiomyopathies: A Narrative Review.Biomedicines · 2024Review
- RNA-binding proteins in cardiovascular biology and disease: the beat goes on.Nature reviews. Cardiology · 2024Review
- Circular RNAs: a small piece in the heart failure puzzle.Functional & integrative genomics · 2024Review
- Loss of Cardiac Splicing RegulatorJACC. Basic to translational science · 2024Article
- Mechanisms of RBM20 Cardiomyopathy: Insights From Model Systems.Circulation. Genomic and precision medicine · 2024Review
42 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
16 authors at 6 institutions in 1 country.
Funding
Abstract
backgroundDilated cardiomyopathy (DCM) is a leading cause of heart failure and death. The etiology of DCM is genetically heterogeneous.
objectivesWe sought to define the prevalence of mutations in the RNA splicing protein RBM20 in a large cohort with DCM and to determine whether genetic variation in RBM20 is associated with clinical outcomes.
methodsSubjects included in the Genetic Risk Assessment of Defibrillator Events (GRADE) study were aged at least 18 years, had an ejection fraction of ≤30%, and an implantable cardioverter-defibrillator (ICD). The coding region and splice junctions of RBM20 were screened in subjects with DCM; 2 common polymorphisms in RBM20, rs942077 and rs35141404, were genotyped in all GRADE subjects.
resultsA total of 1465 subjects were enrolled in the GRADE study, and 283 with DCM were screened for RBM20 mutations. The mean age of subjects with DCM was 58 ± 13 years, 64% were males, and the mean follow-up time was 24.2 ± 17.1 months after ICD placement. RBM20 mutations were identified in 8 subjects with DCM (2.8%). Mutation carriers had a similar survival, transplantation rate, and frequency of ICD therapy compared with nonmutation carriers. Three of 8 subjects with RBM20 mutations (37.5%) had atrial fibrillation (AF), whereas 19 subjects without mutations (7.4%) had AF (P = .02). Among all GRADE subjects, rs35141404 was associated with AF (minor allele odds ratio = 0.62; 95% confidence interval = 0.44-0.86; P = .006). In the subset of GRADE subjects with DCM, rs35141404 was associated with AF (minor allele odds ratio = 0.58; P = .047).
conclusionsMutations in RBM20 were observed in approximately 3% of subjects with DCM. There were no differences in survival, transplantation rate, and frequency of ICD therapy in mutation carriers.
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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.