ArticleMolecular genetics & genomic medicine2016
Analyses of more than 60,000 exomes questions the role of numerous genes previously associated with dilated cardiomyopathy.
Article in Molecular genetics & genomic medicine, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers, 1 of them a synthesis that pooled it.
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21 citing papers in PubMed, 1 synthesis or guideline pooled it, 32 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
- From gene to heart: the impact of a novel SGCD variant in familial dilated cardiomyopathy.BMC medical genomics · 2026Article
- Genotype-Phenotype Insights of Inherited Cardiomyopathies-A Review.Medicina (Kaunas, Lithuania) · 2024Review
- The evolutionary impact of childhood cancer on the human gene pool.Nature communications · 2024Article
- Mutation update for the ACTN2 gene.Human mutation · 2022Review
- The genetic architecture of pediatric cardiomyopathy.American journal of human genetics · 2022Article
- Interpretation of Incidental Genetic Findings Localizing to Genes Associated With Cardiac Channelopathies and Cardiomyopathies.Circulation. Genomic and precision medicine · 2021Article
- Genetic investigations of 100 inherited cardiac disease-related genes in deceased individuals with schizophrenia.International journal of legal medicine · 2021Article
- Clinical Insights Into Heritable Cardiomyopathies.Frontiers in genetics · 2021Review
- Prospective Evaluation of the Utility of Whole Exome Sequencing in Dilated Cardiomyopathy.Journal of the American Heart Association · 2020Article
- Article
- Improving the diagnostic yield of exome- sequencing by predicting gene-phenotype associations using large-scale gene expression analysis.Nature communications · 2019Article
- Assessment of fibroblast nuclear morphology aids interpretation of LMNA variants.European journal of human genetics : EJHG · 2019Article
- Genetics of Dilated Cardiomyopathy: Clinical Implications.Current cardiology reports · 2018Review
- Molecular insights into cardiomyopathies associated with desmin (DES) mutations.Biophysical reviews · 2018Review
- Exome analysis in 34 sudden unexplained death (SUD) victims mainly identified variants in channelopathy-associated genes.International journal of legal medicine · 2018Article
- Functional implications of a rare variant in the sodium channel β1B subunit (HeartRhythm case reports · 2018Article
- Genetics of paediatric cardiomyopathies.Current opinion in pediatrics · 2017Review
- Genetic Testing in Inherited Heart Diseases: Practical Considerations for Clinicians.Current cardiology reports · 2017Review
- Genetics and genomics of dilated cardiomyopathy and systolic heart failure.Genome medicine · 2017Review
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9 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundHundreds of genetic variants have been described as disease causing in dilated cardiomyopathy (DCM). Some of these associations are now being questioned. We aimed to identify the prevalence of previously DCM associated variants in the Exome Aggregation Consortium (ExAC), in order to identify potentially false-positive DCM variants.
methodsVariants listed as DCM disease-causing variants in the Human Gene Mutation Database were extracted from ExAC. Pathogenicity predictions for these variants were mined from dbNSFP v 2.9 database.
resultsOf the 473 DCM variants listed in HGMD, 148 (31%) were found in ExAC. The expected number of individuals with DCM in ExAC is 25 based on the prevalence in the general population. Yet, 35 variants were found in more than 25 individuals. In 13 genes, we identified all variants previously associated with DCM; four genes contained variants above our estimated cut-off. Prediction tools found ExAC variants to be significantly more tolerated when compared to variants not found in ExAC (
conclusionIn ExAC, we identified a higher genotype prevalence of variants considered disease-causing than expected. More importantly, we found 13 genes in which all variants previously associated with DCM were identified in ExAC, questioning the association of these genes with the monogenic form of DCM.
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