ArticleEuropean journal of human genetics : EJHG2013
New population-based exome data are questioning the pathogenicity of previously cardiomyopathy-associated genetic variants.
Article in European journal of human genetics : EJHG, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 97 papers, 1 of them a synthesis that pooled it.
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97 citing papers in PubMed, 1 synthesis or guideline pooled it, 213 citations in OpenAlex.
- Meta-analysis of cardiomyopathy-associated variants in troponin genes identifies loci and intragenic hot spots that are associated with worse clinical outcomes.Journal of molecular and cellular cardiology · 2020Pooled it
- De Novo Occurrence of a Variant in ARL3 and Apparent Autosomal Dominant Transmission of Retinitis Pigmentosa.PloS one · 2016Trial
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- Exploratory analysis of a Novel RACK1 mutation and its potential role in epileptic seizures via Microglia activation.Journal of neuroinflammation · 2025Article
- Troponin I - a comprehensive review of its function, structure, evolution, and role in muscle diseases.Animal cells and systems · 2025Review
- Mutation update for the ACTN2 gene.Human mutation · 2022Review
- Prevalence and Phenotypic Burden of Monogenic Arrhythmias Using Integration of Electronic Health Records With Genetics.Circulation. Genomic and precision medicine · 2022Article
- Utilizing ClinGen gene-disease validity and dosage sensitivity curations to inform variant classification.Human mutation · 2022Article
- Racial Disparities in Ion Channelopathies and Inherited Cardiovascular Diseases Associated With Sudden Cardiac Death.Journal of the American Heart Association · 2022Review
- OMICS Applications for Medicinal Plants in Gastrointestinal Cancers: Current Advancements and Future Perspectives.Frontiers in pharmacology · 2022Review
- Evolving Diagnostic Criteria for Arrhythmogenic Cardiomyopathy.Journal of the American Heart Association · 2021Review
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- Recruiting diversity where it exists: The Alabama Genomic Health Initiative.Journal of genetic counseling · 2020Article
- Contemporary Insights Into the Genetics of Hypertrophic Cardiomyopathy: Toward a New Era in Clinical Testing?Journal of the American Heart Association · 2020Review
- Loss-of-Function Variants in Cytoskeletal Genes Are Associated with Early-Onset Atrial Fibrillation.Journal of clinical medicine · 2020Article
- SVAD: A genetic database curates non-ischemic sudden cardiac death-associated variants.PloS one · 2020Article
- Is Gene-Size an Issue for the Diagnosis of Skeletal Muscle Disorders?Journal of neuromuscular diseases · 2020Review
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- Functional characterization of a novel SCN5A variant associated with long QT syndrome and sudden cardiac death.International journal of legal medicine · 2019Article
37 more citing papers are in PubMed but not listed here.
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Authors and funding
10 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Cardiomyopathies are a heterogeneous group of diseases with various etiologies. We focused on three genetically determined cardiomyopathies: hypertrophic (HCM), dilated (DCM), and arrhythmogenic right ventricular cardiomyopathy (ARVC). Eighty-four genes have so far been associated with these cardiomyopathies, but the disease-causing effect of reported variants is often dubious. In order to identify possible false-positive variants, we investigated the prevalence of previously reported cardiomyopathy-associated variants in recently published exome data. We searched for reported missense and nonsense variants in the NHLBI-Go Exome Sequencing Project (ESP) containing exome data from 6500 individuals. In ESP, we identified 94 variants out of 687 (14%) variants previously associated with HCM, 58 out of 337 (17%) variants associated with DCM, and 38 variants out of 209 (18%) associated with ARVC. These findings correspond to a genotype prevalence of 1:4 for HCM, 1:6 for DCM, and 1:5 for ARVC. PolyPhen-2 predictions were conducted on all previously published cardiomyopathy-associated missense variants. We found significant overrepresentation of variants predicted as being benign among those present in ESP compared with the ones not present. In order to validate our findings, seven variants associated with cardiomyopathy were genotyped in a control population and this revealed frequencies comparable with the ones found in ESP. In conclusion, we identified genotype prevalences up to more than one thousand times higher than expected from the phenotype prevalences in the general population (HCM 1:500, DCM 1:2500, and ARVC 1:5000) and our data suggest that a high number of these variants are not monogenic causes of cardiomyopathy.
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