ArticleNature genetics2024
Genome-wide association analysis provides insights into the molecular etiology of dilated cardiomyopathy.
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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. Cited by 38 papers, 1 of them a synthesis that pooled it.
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38citing papers in PubMed, 1 pooled it
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Who cites it
38 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
- Antiviral innate immunity in myocarditis: mechanisms and emerging therapeutics.Experimental & molecular medicine · 2026Review
- Review
- Kernelized approach enables explainable gene prioritizations for complex traits.bioRxiv : the preprint server for biology · 2026Article
- 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
- A CommonmedRxiv : the preprint server for health sciences · 2026Article
- Epidemiology of non-ischaemic dilated cardiomyopathy.Nature reviews. Cardiology · 2026Review
- Ancestral diversity in complex disease genetics: from discovery to translation.Nature reviews. Genetics · 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
- Epigenome-Wide Association Studies of Proteasome Inhibitor-Related Cardiotoxicity in Patients with Multiple Myeloma.Cancers · 2026Article
- Bridging the dimensional gap from planar spatial transcriptomics to 3D cell atlases.Nature methods · 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
- Chamber-specific chromatin architecture guides functional interpretation of disease-associated Cis-regulatory elements in human cardiomyocytes.Nature communications · 2026Article
- A multimodal vision knowledge graph of cardiovascular disease.Nature cardiovascular research · 2026Article
- Article
- Interactions with polygenic background impact quantitative traits in the UK Biobank.medRxiv : the preprint server for health sciences · 2025Article
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Authors and funding
110 authors.
Sean L Zheng *National Heart and Lung Institute, Imperial College London, London, UK.ORCID http://orcid.org/0000-0002-5762-6392
Albert Henry *Institute of Cardiovascular Science, University College London, London, UK.ORCID http://orcid.org/0000-0001-7422-2288
Douglas CannieInstitute of Cardiovascular Science, University College London, London, UK.
Michael LeeNational Heart and Lung Institute, Imperial College London, London, UK.ORCID http://orcid.org/0000-0002-0186-4439
David MillerDivision of Biosciences, University College London, London, UK.
Kathryn A McGurkNational Heart and Lung Institute, Imperial College London, London, UK.ORCID http://orcid.org/0000-0002-5445-6906
Isabelle BondInstitute of Cardiovascular Science, University College London, London, UK.
Xiao XuNational Heart and Lung Institute, Imperial College London, London, UK.
Hanane IssaInstitute of Health Informatics, University College London, London, UK.
Catherine FrancisNational Heart and Lung Institute, Imperial College London, London, UK.
Antonio De MarvaoNational Heart and Lung Institute, Imperial College London, London, UK.
Pantazis I TheotokisNational Heart and Lung Institute, Imperial College London, London, UK.ORCID http://orcid.org/0000-0001-8718-230X
Rachel J BuchanNational Heart and Lung Institute, Imperial College London, London, UK.ORCID http://orcid.org/0000-0003-2490-9289
Doug SpeedQuantitative Genetics and Genomics, Aarhus University, Aarhus, Denmark.ORCID http://orcid.org/0000-0002-0096-9765
Erik AbnerEstonian Genome Center, Institute of Genomics, University of Tartu, Tartu, Estonia.ORCID http://orcid.org/0000-0002-6529-3161
Lance AdamsGeisinger Health System, Danville, PA, USA.
Krishna G AragamCardiovascular Research Center, Massachusetts General Hospital, Boston, MA, USA.ORCID http://orcid.org/0000-0003-3223-9131
Johan ÄrnlövDepartment of Neurobiology, Care Sciences and Society/Section of Family Medicine and Primary Care, Karolinska Institutet, Stockholm, Sweden.
Anna Axelsson RajaDepartment of Cardiology, The Heart Centre, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.
Joshua D BackmanAnalytical Genetics, Regeneron Genetics Center, Tarrytown, NY, USA.ORCID http://orcid.org/0000-0001-7262-0880
John BaksiRoyal Brompton & Harefield Hospitals, Guy's and St. Thomas' NHS Foundation Trust, London, UK.
Paul J R BartonNational Heart and Lung Institute, Imperial College London, London, UK.ORCID http://orcid.org/0000-0002-1165-7767
Kiran J BiddingerCardiovascular Research Center, Massachusetts General Hospital, Boston, MA, USA.
Eric BoersmaErasmus MC, Cardiovascular Institute, Thorax Center, Department of Cardiology, Utrecht, the Netherlands.
Jeffrey BrandimartoPenn Cardiovascular Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Søren BrunakNovo Nordisk Foundation Center for Protein Research, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.ORCID http://orcid.org/0000-0003-0316-5866
Henning BundgaardDepartment of Cardiology, The Heart Centre, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.
David J CareyDepartment of Molecular and Functional Genomics, Geisinger, Danville, PA, USA.
Philippe CharronSorbonne Research Unit on Cardiovascular Disorders, Metabolism and Nutrition, Team Genomics & Pathophysiology of Cardiovascular Diseases, ICAN Institute for Cardiometabolism and Nutrition, Paris, France.ORCID http://orcid.org/0000-0002-1782-1118
James P CookDepartment of Biostatistics, University of Liverpool, Liverpool, UK.
Stuart A CookNational Heart and Lung Institute, Imperial College London, London, UK.
Spiros DenaxasInstitute of Health Informatics, University College London, London, UK.
Jean-François DeleuzeCentre National de Recherche en Génomique Humaine (CNRGH), Institut de Biologie François Jacob, CEA, Université Paris-Saclay, Evry, France.ORCID http://orcid.org/0000-0002-5358-4463
Alexander S DoneyDivision of Molecular & Clinical Medicine, University of Dundee, Ninewells Hospital and Medical School, Dundee, UK.
Perry ElliottInstitute of Cardiovascular Science, University College London, London, UK.ORCID http://orcid.org/0000-0003-3383-3984
Christian ErikstrupDepartment of Clinical Immunology, Aarhus University Hospital, Aarhus, Denmark.ORCID http://orcid.org/0000-0001-6551-6647
Tõnu EskoEstonian Genome Center, Institute of Genomics, University of Tartu, Tartu, Estonia.
Eric H Farber-EgerVanderbilt Institute for Clinical and Translational Research, Vanderbilt University Medical Center, Nashville, TN, USA.ORCID http://orcid.org/0000-0003-0281-3796
Chris FinanInstitute of Cardiovascular Science, University College London, London, UK.ORCID http://orcid.org/0000-0002-3319-1937
Sophie GarnierSorbonne Research Unit on Cardiovascular Disorders, Metabolism and Nutrition, Team Genomics & Pathophysiology of Cardiovascular Diseases, ICAN Institute for Cardiometabolism and Nutrition, Paris, France.ORCID http://orcid.org/0000-0002-7492-1617
Jonas GhouseDepartment of Cardiology, The Heart Centre, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.
Vilmantas GiedraitisDepartment of Public Health and Caring Sciences, Geriatrics, Uppsala, Sweden.ORCID http://orcid.org/0000-0003-3423-2021
Daniel F GuðbjartssondeCODE genetics/Amgen Inc., Reykjavik, Iceland.ORCID http://orcid.org/0000-0002-5222-9857
Christopher M HaggertyDepartment of Molecular and Functional Genomics, Geisinger, Danville, PA, USA.
Brian P HallidayNational Heart and Lung Institute, Imperial College London, London, UK.
Anna HelgadottirdeCODE genetics/Amgen Inc., Reykjavik, Iceland.ORCID http://orcid.org/0000-0002-1806-2467
Harry HemingwayInstitute of Health Informatics, University College London, London, UK.ORCID http://orcid.org/0000-0003-2279-0624
Hans L HillegeDepartment of Cardiology, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.
Isabella KardysErasmus MC, Cardiovascular Institute, Thorax Center, Department of Cardiology, Utrecht, the Netherlands.
Lars LindDepartment of Medical Sciences, Uppsala University, Uppsala, Sweden.
Cecilia M LindgrenProgram in Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Brandon D LoweryVanderbilt Institute for Clinical and Translational Research, Vanderbilt University Medical Center, Nashville, TN, USA.ORCID http://orcid.org/0000-0003-0898-6137
Charlotte ManistyInstitute of Cardiovascular Science, University College London, London, UK.
Kenneth B MarguliesNovo Nordisk Foundation Center for Protein Research, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.
James C MoonInstitute of Cardiovascular Science, University College London, London, UK.
Ify R MordiDivision of Molecular & Clinical Medicine, University of Dundee, Ninewells Hospital and Medical School, Dundee, UK.ORCID http://orcid.org/0000-0002-2686-729X
Michael P MorleyNovo Nordisk Foundation Center for Protein Research, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.
Andrew D MorrisUsher Institute of Population Health Sciences and Informatics, University of Edinburgh, Edinburgh, UK.ORCID http://orcid.org/0000-0002-1766-0473
Andrew P MorrisCentre for Genetics and Genomics Versus Arthritis, Centre for Musculoskeletal Research, University of Manchester, Manchester, UK.
Lori MortonCardiovascular Research, Regeneron Pharmaceuticals, Tarrytown, NY, USA.
Mahdad NoursadeghiResearch Department of Infection, Division of Infection and Immunity, University College London, London, UK.ORCID http://orcid.org/0000-0002-4774-0853
Sisse R OstrowskiDepartment of Clinical Immunology, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.ORCID http://orcid.org/0000-0001-5288-3851
Anjali T OwensPenn Cardiovascular Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Colin N A PalmerDivision of Population Health and Genomics, University of Dundee, Ninewells Hospital and Medical School, Dundee, UK.ORCID http://orcid.org/0000-0002-6415-6560
Antonis PantazisRoyal Brompton & Harefield Hospitals, Guy's and St. Thomas' NHS Foundation Trust, London, UK.
Ole B V PedersenDepartment of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen University Hospital, Copenhagen, Denmark.ORCID http://orcid.org/0000-0003-2312-5976
Sanjay K PrasadNational Heart and Lung Institute, Imperial College London, London, UK.ORCID http://orcid.org/0000-0002-5637-0727
Akshay ShekharCardiovascular Research, Regeneron Pharmaceuticals, Tarrytown, NY, USA.
Diane T SmelserDepartment of Molecular and Functional Genomics, Geisinger, Danville, PA, USA.
Sundararajan SrinivasanDivision of Population Health and Genomics, University of Dundee, Ninewells Hospital and Medical School, Dundee, UK.ORCID http://orcid.org/0000-0002-3387-9889
Kari StefanssondeCODE genetics/Amgen Inc., Reykjavik, Iceland.
Garðar SveinbjörnssondeCODE genetics/Amgen Inc., Reykjavik, Iceland.ORCID http://orcid.org/0000-0003-2429-9468
Petros SyrrisInstitute of Cardiovascular Science, University College London, London, UK.ORCID http://orcid.org/0000-0002-2363-8758
Mari-Liis TammesooEstonian Genome Center, Institute of Genomics, University of Tartu, Tartu, Estonia.
Upasana TayalNational Heart and Lung Institute, Imperial College London, London, UK.
Maris Teder-LavingEstonian Genome Center, Institute of Genomics, University of Tartu, Tartu, Estonia.ORCID http://orcid.org/0000-0002-5872-1850
Guðmundur ThorgeirssondeCODE genetics/Amgen Inc., Reykjavik, Iceland.ORCID http://orcid.org/0000-0002-7146-1395
Unnur ThorsteinsdottirdeCODE genetics/Amgen Inc., Reykjavik, Iceland.
Vinicius TragantedeCODE genetics/Amgen Inc., Reykjavik, Iceland.ORCID http://orcid.org/0000-0002-8223-8957
David-Alexandre TrégouëtLaboratory of Excellence GENMED (Medical Genomics), Paris, France.ORCID http://orcid.org/0000-0001-9084-7800
Thomas A TreibelInstitute of Cardiovascular Science, University College London, London, UK.
Henrik UllumStatens Serum Institut, Copenhagen, Denmark.
Ana M ValdesInjury, Recovery and Inflammation Sciences, School of Medicine, University of Nottingham, Nottingham, UK.
Jessica van SettenDepartment of Cardiology, University Medical Center Utrecht, Utrecht, the Netherlands.ORCID http://orcid.org/0000-0002-4934-7510
Marion van VugtDepartment of Cardiology, University Medical Center Utrecht, Utrecht, the Netherlands.ORCID http://orcid.org/0000-0002-6634-1989
Abirami VeluchamyDivision of Population Health and Genomics, University of Dundee, Ninewells Hospital and Medical School, Dundee, UK.
W M Monique VerschurenDepartment Life Course, Lifestyle and Health, Centre for Prevention, Lifestyle and Health, National Institute for Public Health and the Environment, Bilthoven, the Netherlands.ORCID http://orcid.org/0000-0003-2134-4227
Eric VillardSorbonne Research Unit on Cardiovascular Disorders, Metabolism and Nutrition, Team Genomics & Pathophysiology of Cardiovascular Diseases, ICAN Institute for Cardiometabolism and Nutrition, Paris, France.ORCID http://orcid.org/0000-0001-9801-7297
Yifan YangPenn Cardiovascular Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
COVIDsortium
DBDS Genomic Consortium
Estonian Biobank Research Team
HERMES Consortium
Folkert W AsselbergsInstitute of Cardiovascular Science, University College London, London, UK.
Thomas P CappolaPenn Cardiovascular Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.ORCID http://orcid.org/0000-0002-9630-7204
Marie-Pierre DubeMontreal Heart Institute, Montreal Heart Institute, Montreal, Quebec, Canada.ORCID http://orcid.org/0000-0001-8442-4393
Michael E DunnCardiovascular Research, Regeneron Pharmaceuticals, Tarrytown, NY, USA.
Patrick T EllinorProgram in Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID http://orcid.org/0000-0002-2067-0533
Aroon D HingoraniInstitute of Cardiovascular Science, University College London, London, UK.ORCID http://orcid.org/0000-0001-8365-0081
Chim C LangDivision of Molecular & Clinical Medicine, University of Dundee, Ninewells Hospital and Medical School, Dundee, UK.
Nilesh J SamaniDepartment of Cardiovascular Sciences, University of Leicester and NIHR Leicester Biomedical Research Centre, Glenfield Hospital, Leicester, UK.
Svati H ShahDepartment of Medicine, Division of Cardiology, Duke University Medical Center, Durham, NC, USA.
J Gustav SmithDepartment of Cardiology, Clinical Sciences, Lund University and Skåne University Hospital, Lund, Sweden.ORCID http://orcid.org/0000-0001-6285-9935
Ramachandran S VasanNational Heart, Lung, and Blood Institute's and Boston University's Framingham Heart Study, Framingham, MA, USA.ORCID http://orcid.org/0000-0001-7357-5970
Declan P O'ReganMRC Laboratory of Medical Sciences, London, UK.
Hilma HolmdeCODE genetics/Amgen Inc., Reykjavik, Iceland.ORCID http://orcid.org/0000-0002-9517-6636
Michela NosedaNational Heart and Lung Institute, Imperial College London, London, UK.ORCID http://orcid.org/0000-0002-9553-5029
Quinn WellsDivision of Cardiovascular Medicine, Vanderbilt University, Nashville, TN, USA.
James S WareNational Heart and Lung Institute, Imperial College London, London, UK. j.ware@imperial.ac.uk.ORCID http://orcid.org/0000-0002-6110-5880
R Thomas LumbersInstitute of Health Informatics, University College London, London, UK. t.lumbers@ucl.ac.uk.ORCID http://orcid.org/0000-0002-9077-4741
Funding
SIGNIFICANCE OF MEMBRANE PHOSPHOLIPID ASYMMETRYR01HL027059 · NHLBI · CHILDREN'S HOSPITAL &RES CTR AT OAKLAND · PI LUBIN, BERTRAM HAROLD · 1985 to 1999
–British Heart Foundation BBC/F/21/220106British Heart Foundation FS/ICRF/21/26019British Heart Foundation FS/ICRF/24/26101British Heart Foundation RG/19/6/34387British Heart Foundation SP/17/11/32885British Heart Foundation SP/19/1/34461British Heart Foundation (BHF) FS/18/65/34186British Heart Foundation (BHF) FS/IPBSRF/22/27059British Heart Foundation (BHF) RE/18/4/34215Medical Research Council MC_UP_1605/13Medical Research Council MR/W023830/1Medical Research Council MR/W026813/1Medical Research Council MR/Y010175/1Wellcome TrustWellcome Trust (Wellcome) 207511/Z/17/Z
Abstract
Dilated cardiomyopathy (DCM) is a leading cause of heart failure and cardiac transplantation. We report a genome-wide association study and multi-trait analysis of DCM (14,256 cases) and three left ventricular traits (36,203 UK Biobank participants). We identified 80 genomic risk loci and prioritized 62 putative effector genes, including several with rare variant DCM associations (MAP3K7, NEDD4L and SSPN). Using single-nucleus transcriptomics, we identify cellular states, biological pathways, and intracellular communications that drive pathogenesis. We demonstrate that polygenic scores predict DCM in the general population and modify penetrance in carriers of rare DCM variants. Our findings may inform the design of genetic testing strategies that incorporate polygenic background. They also provide insights into the molecular etiology of DCM that may facilitate the development of targeted therapeutics.
Indexed as
Cardiomyopathy, DilatedGenetic Predisposition to DiseaseGenome-Wide Association StudyNedd4 Ubiquitin Protein LigasesFemaleHumansMaleMultifactorial InheritancePolymorphism, Single NucleotideQuantitative Trait LociNedd4L protein, humanNedd4 Ubiquitin Protein Ligases
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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.