ArticleNature genetics2024
Genome-wide association study reveals mechanisms underlying dilated cardiomyopathy and myocardial resilience.
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Article in Nature genetics, 2024. 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 41 papers, 1 of them a synthesis that pooled it.
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41citing papers in PubMed, 1 pooled it
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41 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Genome-wide analysis identifies susceptibility loci for heart failure and nonischemic cardiomyopathy subtype in the East Asian populations.PLoS genetics · 2025Pooled it
- Cell-type specific analyses in blood and gut identify cis-eQTL matching 140 IBD risk loci and entrectinib as repurposing candidate.Nature communications · 2026Article
- Genetic architecture of cytokine autoantibodies and associated risk of common diseases.Nature communications · 2026Article
- Review
- Clinical utility of polygenic risk scores in cardiovascular disorders.Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V · 2026Article
- Genetic counselling implementation in dilated cardiomyopathy.European heart journal · 2026Review
- Dysregulation of liquid-liquid phase separation: from molecular mechanisms to targeted therapies in cardiovascular diseases.Journal of nanobiotechnology · 2026Review
- A CommonmedRxiv : the preprint server for health sciences · 2026Article
- Epidemiology of non-ischaemic dilated cardiomyopathy.Nature reviews. Cardiology · 2026Review
- International Utah cardiac recovery symposium (U-CARS) 2025:translational and basic science proceedings.Heart failure reviews · 2026Review
- An integrative single-nucleus multiomic atlas of the human left ventricle identifies gene regulatory network dynamics across cardiac development, aging, and disease.Genome biology · 2026Article
- Evaluation of Women With Peripartum or Dilated Cardiomyopathy and Their First-Degree Relatives: The DCM Precision Medicine Study.Circulation. Genomic and precision medicine · 2026Observational
- Epigenetics, Modifiers, and Molecular Noise: Rethinking Pathophysiology in Dilated and Hypertrophic Cardiomyopathies.International journal of molecular sciences · 2026Review
- Rare coding and noncoding variants map 1,342 diseases and biomarkers in 490,549 whole genomes.medRxiv : the preprint server for health sciences · 2026Article
- Emerging Mechanisms and Therapeutic Strategies in Dilated Cardiomyopathy.Biomedicines · 2026Review
- Epigenome-Wide Association Studies of Proteasome Inhibitor-Related Cardiotoxicity in Patients with Multiple Myeloma.Cancers · 2026Article
- Polygenic Background and Penetrance of Pathogenic Variants in Hypertrophic and Dilated Cardiomyopathies.JAMA cardiology · 2026Article
- Leveraging the shared and opposing genetic mechanisms in the heritable cardiomyopathies.Research square · 2026Article
- Integration of dilated cardiomyopathy genomics with transcriptomics from the human heart implicates regulatory molecular mechanisms.medRxiv : the preprint server for health sciences · 2026Article
- Precision medicine and personalized nursing in cardiovascular disease: clinical applications and frontier developments.Frontiers in cardiovascular medicine · 2026Review
Corrections and comments
- Erratum issued
Authors and funding
61 authors.
Sean J Jurgens *Department of Experimental Cardiology, Amsterdam Cardiovascular Sciences, Heart Failure & Arrhythmias, Amsterdam UMC location, University of Amsterdam, Amsterdam, the Netherlands.ORCID http://orcid.org/0000-0002-1605-9782
Joel T Rämö *Cardiovascular Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID http://orcid.org/0000-0002-6429-5149
Daria R Kramarenko *Department of Experimental Cardiology, Amsterdam Cardiovascular Sciences, Heart Failure & Arrhythmias, Amsterdam UMC location, University of Amsterdam, Amsterdam, the Netherlands.ORCID http://orcid.org/0000-0001-6427-2521
Leonoor F J M Wijdeveld *Cardiovascular Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Jan Haas *Department of Medicine III, Institute for Cardiomyopathies Heidelberg (ICH), University Hospital Heidelberg, Heidelberg, Germany.
Mark D Chaffin *Cardiovascular Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID http://orcid.org/0000-0002-1234-5562
Sophie Garnier *Research Unit on Cardiovascular Disorders, Metabolism and Nutrition, Team Genomics and Pathophysiology of Cardiovascular Disease, Sorbone Université, INSERM, Paris, France.ORCID http://orcid.org/0000-0002-7492-1617
Liam Gaziano *Cardiovascular Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Lu-Chen WengCardiovascular Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Alex LipovDepartment of Experimental Cardiology, Amsterdam Cardiovascular Sciences, Heart Failure & Arrhythmias, Amsterdam UMC location, University of Amsterdam, Amsterdam, the Netherlands.
Sean L ZhengNational Heart and Lung Institute, Imperial College London, London, UK.ORCID http://orcid.org/0000-0002-5762-6392
Albert HenryInstitute of Cardiovascular Science, University College London, London, UK.ORCID http://orcid.org/0000-0001-7422-2288
Jennifer E HuffmanMassachusetts Veterans Epidemiology Research and Information Center (MAVERIC), VA Boston Healthcare System, Boston, MA, USA.ORCID http://orcid.org/0000-0002-9672-2491
Saketh ChallaCardiovascular Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Frank RühleBioinformatics Core Facility, Institute of Molecular Biology gGmbH (IMB), Mainz, Germany.ORCID http://orcid.org/0000-0001-7688-2394
Carmen Diaz VerdugoCardiovascular Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID http://orcid.org/0000-0002-1378-8592
Christian Krijger JuárezDepartment of Experimental Cardiology, Amsterdam Cardiovascular Sciences, Heart Failure & Arrhythmias, Amsterdam UMC location, University of Amsterdam, Amsterdam, the Netherlands.ORCID http://orcid.org/0000-0003-1603-7484
Shinwan KanyCardiovascular Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Constance A van OrsouwDepartment of Clinical Genetics, Amsterdam UMC location, University of Amsterdam, Amsterdam, the Netherlands.
Kiran BiddingerCardiovascular Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Edwin PoelDepartment of Experimental Cardiology, Amsterdam Cardiovascular Sciences, Heart Failure & Arrhythmias, Amsterdam UMC location, University of Amsterdam, Amsterdam, the Netherlands.
Amanda L ElliottInstitute for Molecular Medicine Finland (FIMM), Helsinki Institute of Life Science (HiLIFE), University of Helsinki, Helsinki, Finland.
Xin WangCardiovascular Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID http://orcid.org/0000-0002-0322-8970
Catherine FrancisNational Heart and Lung Institute, Imperial College London, London, UK.
Richard RuanCardiovascular Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Satoshi KoyamaCardiovascular Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID http://orcid.org/0000-0002-9286-0360
Leander BeekmanDepartment of Experimental Cardiology, Amsterdam Cardiovascular Sciences, Heart Failure & Arrhythmias, Amsterdam UMC location, University of Amsterdam, Amsterdam, the Netherlands.
Dominic S ZimmermanDepartment of Experimental Cardiology, Amsterdam Cardiovascular Sciences, Heart Failure & Arrhythmias, Amsterdam UMC location, University of Amsterdam, Amsterdam, the Netherlands.
Jean-François DeleuzeCEA, Centre National de Recherche en Génomique Humaine, Université Paris-Saclay, Evry, France.
Eric VillardResearch Unit on Cardiovascular Disorders, Metabolism and Nutrition, Team Genomics and Pathophysiology of Cardiovascular Disease, Sorbone Université, INSERM, Paris, France.ORCID http://orcid.org/0000-0001-9801-7297
David-Alexandre TrégouëtLaboratory of Excellence in Medical Genomics, GENMED, Evry, France.ORCID http://orcid.org/0000-0001-9084-7800
Richard IsnardResearch Unit on Cardiovascular Disorders, Metabolism and Nutrition, Team Genomics and Pathophysiology of Cardiovascular Disease, Sorbone Université, INSERM, Paris, France.
FinnGen
VA Million Veteran Program
HERMES Consortium
Dorret I BoomsmaDepartment of Biological Psychology, Vrije Universiteit Amsterdam, Amsterdam, the Netherlands.
Eco J C de GeusDepartment of Biological Psychology, Vrije Universiteit Amsterdam, Amsterdam, the Netherlands.ORCID http://orcid.org/0000-0001-6022-2666
Rafik TadrosDepartment of Experimental Cardiology, Amsterdam Cardiovascular Sciences, Heart Failure & Arrhythmias, Amsterdam UMC location, University of Amsterdam, Amsterdam, the Netherlands.ORCID http://orcid.org/0000-0002-1472-0258
Yigal M PintoDepartment of Experimental Cardiology, Amsterdam Cardiovascular Sciences, Heart Failure & Arrhythmias, Amsterdam UMC location, University of Amsterdam, Amsterdam, the Netherlands.ORCID http://orcid.org/0000-0002-2836-571X
Arthur A M WildeDepartment of Experimental Cardiology, Amsterdam Cardiovascular Sciences, Heart Failure & Arrhythmias, Amsterdam UMC location, University of Amsterdam, Amsterdam, the Netherlands.
Jouke-Jan HottengaDepartment of Biological Psychology, Vrije Universiteit Amsterdam, Amsterdam, the Netherlands.ORCID http://orcid.org/0000-0002-5668-2368
Juha SinisaloDepartment of Cardiology, Helsinki University Hospital, Helsinki, Finland.ORCID http://orcid.org/0000-0002-0169-5137
Teemu NiiranenDepartment of Internal Medicine, University of Turku, Helsinki, Finland.ORCID http://orcid.org/0000-0002-7394-7487
Roddy WalshDepartment of Experimental Cardiology, Amsterdam Cardiovascular Sciences, Heart Failure & Arrhythmias, Amsterdam UMC location, University of Amsterdam, Amsterdam, the Netherlands.ORCID http://orcid.org/0000-0001-5092-8825
Amand F SchmidtDepartment of Clinical Cardiology, Amsterdam Cardiovascular Sciences, Heart Failure and Arrhythmias, Amsterdam UMC location, University of Amsterdam, Amsterdam, the Netherlands.ORCID http://orcid.org/0000-0003-1327-0424
Seung Hoan ChoiCardiovascular Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID http://orcid.org/0000-0002-2797-3190
Kyong-Mi ChangCorporal Michael J. Crescenz VA Medical Center, Philadelphia, PA, USA.ORCID http://orcid.org/0000-0001-6811-9364
Philip S TsaoPalo Alto Health Care System, Palo Alto, CA, USA.ORCID http://orcid.org/0000-0001-7274-9318
Paul M MatthewsNational Heart and Lung Institute, Imperial College London, London, UK.ORCID http://orcid.org/0000-0002-1619-8328
James S WareNational Heart and Lung Institute, Imperial College London, London, UK.ORCID http://orcid.org/0000-0002-6110-5880
R Thomas LumbersInstitute of Health Informatics, University College London, London, UK.ORCID http://orcid.org/0000-0002-9077-4741
Saskia van der CrabbenDepartment of Clinical Genetics, Amsterdam UMC location, University of Amsterdam, Amsterdam, the Netherlands.
Jari LaukkanenDepartment of Medicine, Institute of Clinical Medicine, University of Eastern Finland, Kuopio, Finland.
Aarno PalotieInstitute for Molecular Medicine Finland (FIMM), Helsinki Institute of Life Science (HiLIFE), University of Helsinki, Helsinki, Finland.ORCID http://orcid.org/0000-0002-2527-5874
Ahmad S AminDepartment of Experimental Cardiology, Amsterdam Cardiovascular Sciences, Heart Failure & Arrhythmias, Amsterdam UMC location, University of Amsterdam, Amsterdam, the Netherlands.ORCID http://orcid.org/0000-0002-1600-7907
Philippe CharronResearch Unit on Cardiovascular Disorders, Metabolism and Nutrition, Team Genomics and Pathophysiology of Cardiovascular Disease, Sorbone Université, INSERM, Paris, France.ORCID http://orcid.org/0000-0002-1782-1118
Benjamin MederDepartment of Medicine III, Institute for Cardiomyopathies Heidelberg (ICH), University Hospital Heidelberg, Heidelberg, Germany.ORCID http://orcid.org/0000-0003-0741-2633
Patrick T EllinorCardiovascular Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, MA, USA. ellinor@mgh.harvard.edu.ORCID http://orcid.org/0000-0002-2067-0533
Mark DalyInstitute for Molecular Medicine Finland (FIMM), Helsinki Institute of Life Science (HiLIFE), University of Helsinki, Helsinki, Finland. mark.daly@helsinki.fi.ORCID http://orcid.org/0000-0002-0949-8752
Krishna G AragamCardiovascular Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, MA, USA. karagam@broadinstitute.org.ORCID http://orcid.org/0000-0003-3223-9131
Connie R BezzinaDepartment of Experimental Cardiology, Amsterdam Cardiovascular Sciences, Heart Failure & Arrhythmias, Amsterdam UMC location, University of Amsterdam, Amsterdam, the Netherlands. c.r.bezzina@amsterdamumc.nl.ORCID http://orcid.org/0000-0002-0633-3514
Funding
IDENTIFICATION OF COMMON GENETIC VARIANTS FOR ATRIAL FIBRILLATION AND PR INTERVALR01HL092577 · NHLBI · MASSACHUSETTS GENERAL HOSPITAL · PI BENJAMIN, EMELIA J., ELLINOR, PATRICK THOMAS · 2009 to 2025
$20.6MGenomics of Cardiac ArrhythmiasR01HL139731 · NHLBI · MASSACHUSETTS GENERAL HOSPITAL · PI ELLINOR, PATRICK THOMAS · 2018 to 2022
$3.3MUsing Electrocardiogram Genetics to Inform Arrhythmia RiskR01HL157635 · NHLBI · MASSACHUSETTS GENERAL HOSPITAL · PI ELLINOR, PATRICK THOMAS, MIRSHAHI, TOORAJ · 2022 to 2025
$2.9MPopulation Assessments of Aggregate Genetic Risk for DilatedýCardiomyopathyK08HL153937 · NHLBI · MASSACHUSETTS GENERAL HOSPITAL · PI ARAGAM, KRISHNA G · 2021 to 2025
$846kGenetics of Cardiometabolic Diseases in the VA PopulationI01BX003362 · VA · VETERANS ADMIN PALO ALTO HEALTH CARE SYS · PI Kyong-Mi Chang, Philip S Tsao · 2017 to 2026
–American Heart Association (American Heart Association, Inc.) 18SFRN34110082American Heart Association (American Heart Association, Inc.) 862032BLRD VA I01 BX003362British Heart Foundation (BHF) RE/18/4/34215British Heart Foundation (BHF) SP/17/11/32885Deutsche Forschungsgemeinschaft (German Research Foundation) 521832260Foundation for the National Institutes of Health (Foundation for the National Institutes of Health, Inc.) 1K08HL153937Foundation for the National Institutes of Health (Foundation for the National Institutes of Health, Inc.) 1R01HL157635Foundation for the National Institutes of Health (Foundation for the National Institutes of Health, Inc.) 1RO1HL092577Foundation for the National Institutes of Health (Foundation for the National Institutes of Health, Inc.) 5R01HL139731Foundation for the National Institutes of Health (Foundation for the National Institutes of Health, Inc.) I01-BX003362Hartstichting (Dutch Heart Foundation) 03-007-2022-0035NHLBI NIH HHS K08 HL153937NHLBI NIH HHS R01 HL092577NHLBI NIH HHS R01 HL139731NHLBI NIH HHS R01 HL157635Sir Jules Thorn Charitable Trust 21JTAZonMw (Netherlands Organisation for Health Research and Development) 40-46800-98-018
Abstract
Dilated cardiomyopathy (DCM) is a heart muscle disease that represents an important cause of morbidity and mortality, yet causal mechanisms remain largely elusive. Here, we perform a large-scale genome-wide association study and multitrait analysis for DCM using 9,365 cases and 946,368 controls. We identify 70 genome-wide significant loci, which show broad replication in independent samples and map to 63 prioritized genes. Tissue, cell type and pathway enrichment analyses highlight the central role of the cardiomyocyte and contractile apparatus in DCM pathogenesis. Polygenic risk scores constructed from our genome-wide association study predict DCM across different ancestry groups, show differing contributions to DCM depending on rare pathogenic variant status and associate with systolic heart failure across various clinical settings. Mendelian randomization analyses reveal actionable potential causes of DCM, including higher bodyweight and higher systolic blood pressure. Our findings provide insights into the genetic architecture and mechanisms underlying DCM and myocardial function more broadly.
Indexed as
Cardiomyopathy, DilatedGenetic Predisposition to DiseaseGenome-Wide Association StudyMultifactorial InheritanceCase-Control StudiesFemaleHumansMaleMendelian Randomization AnalysisMyocardiumMyocytes, CardiacPolymorphism, Single Nucleotide
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