ArticlePloS one2017
Exome-wide association study reveals novel susceptibility genes to sporadic dilated cardiomyopathy.
Article in PloS one, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 66 papers, 4 of them syntheses that pooled it.
What it found
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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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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.
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Who cites it
66 citing papers in PubMed, 4 syntheses or guidelines pooled it, 119 citations in OpenAlex.
- Common Variants onCirculation. Heart failure · 2023Pooled it
- Genome-wide association analysis reveals insights into the genetic architecture of right ventricular structure and function.Nature genetics · 2022Pooled it
- Shared genetic pathways contribute to risk of hypertrophic and dilated cardiomyopathies with opposite directions of effect.Nature genetics · 2021Pooled it
- Genome-wide association and Mendelian randomisation analysis provide insights into the pathogenesis of heart failure.Nature communications · 2020Pooled it
- MLIP genotype as a predictor of pharmacological response in primary open-angle glaucoma and ocular hypertension.Scientific reports · 2021Trial
- Epigenetics, Modifiers, and Molecular Noise: Rethinking Pathophysiology in Dilated and Hypertrophic Cardiomyopathies.International journal of molecular sciences · 2026Review
- FHOD3 deficiency disrupts sarcomere organization and activates caMKII signaling in human stem cell-derived cardiomyocytes.Stem cell research & therapy · 2026Article
- Polygenic Susceptibility in Peripartum, Alcohol-Induced, and Cancer Therapy-Related Cardiomyopathies.JAMA cardiology · 2025Article
- An African ancestry-specific nonsense variant in CD36 is associated with a higher risk of dilated cardiomyopathy.Nature genetics · 2025Article
- Common genetic modifiers influence cardiomyopathy susceptibility among the carriers of rare pathogenic variants.HGG advances · 2025Article
- TTN and BAG3 in Cancer Therapy-Related Cardiomyopathy Among Long-Term Survivors of Childhood Cancer.JAMA network open · 2025Article
- Impact of Sorbs2 dysfunction on cardiovascular diseases.Biochimica et biophysica acta. Molecular basis of disease · 2025Review
- Polygenic Risk Scores in Dilated Cardiomyopathy: Towards the Future.Current cardiology reports · 2025Review
- Genetic Biomarkers in Heart Failure: From Gene Panels to Polygenic Risk Scores.Current heart failure reports · 2024Review
- Dilated Cardiomyopathy: A Genetic Journey from Past to Future.International journal of molecular sciences · 2024Review
- Association of uncertain significance genetic variants with myocardial mechanics and morphometrics in patients with nonischemic dilated cardiomyopathy.BMC cardiovascular disorders · 2024Article
- Identification of novel genetic risk factors of dilated cardiomyopathy: from canine to human.Genome medicine · 2023Article
- Functional analysis of a common BAG3 allele associated with protection from heart failure.Nature cardiovascular research · 2023Article
- Cardiovascular Magnetic Resonance Imaging in Familial Dilated Cardiomyopathy.Medicina (Kaunas, Lithuania) · 2023Review
- Frequency, Penetrance, and Variable Expressivity of Dilated Cardiomyopathy-Associated Putative Pathogenic Gene Variants in UK Biobank Participants.Circulation · 2022Article
6 more citing papers are in PubMed but not listed here.
Corrections and comments
- Erratum issued
Authors and funding
35 authors at 20 institutions in 6 countries.
Funding
Abstract
aimsDilated cardiomyopathy (DCM) is an important cause of heart failure with a strong familial component. We performed an exome-wide array-based association study (EWAS) to assess the contribution of missense variants to sporadic DCM. METHODS AND
results116,855 single nucleotide variants (SNVs) were analyzed in 2796 DCM patients and 6877 control subjects from 6 populations of European ancestry. We confirmed two previously identified associations with SNVs in BAG3 and ZBTB17 and discovered six novel DCM-associated loci (Q-value<0.01). The lead-SNVs at novel loci are common and located in TTN, SLC39A8, MLIP, FLNC, ALPK3 and FHOD3. In silico fine mapping identified HSPB7 as the most likely candidate at the ZBTB17 locus. Rare variant analysis (MAF<0.01) demonstrated significant association for TTN variants only (P = 0.0085). All candidate genes but one (SLC39A8) exhibit preferential expression in striated muscle tissues and mutations in TTN, BAG3, FLNC and FHOD3 are known to cause familial cardiomyopathy. We also investigated a panel of 48 known cardiomyopathy genes. Collectively, rare (n = 228, P = 0.0033) or common (n = 36, P = 0.019) variants with elevated in silico severity scores were associated with DCM, indicating that the spectrum of genes contributing to sporadic DCM extends beyond those identified here.
conclusionWe identified eight loci independently associated with sporadic DCM. The functions of the best candidate genes at these loci suggest that proteostasis regulation might play a role in DCM pathophysiology.
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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.