ArticleEuropean heart journal2021
Genome-wide association analysis in dilated cardiomyopathy reveals two new players in systolic heart failure on chromosomes 3p25.1 and 22q11.23.
Erratum issuedOpen access · greenAbstract read
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Article in European heart journal, 2021. 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 52 papers, 4 of them syntheses that pooled it.
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52citing papers in PubMed, 4 pooled it
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Who cites it
52 citing papers in PubMed, 4 syntheses or guidelines pooled it, 89 citations in OpenAlex.
- Taurine supplementation as a therapeutic strategy for cellular senescence and chronic inflammation in long COVID: a systematic review and meta-analysis.BMC infectious diseases · 2026Pooled it
- Genome-wide analysis identifies susceptibility loci for heart failure and nonischemic cardiomyopathy subtype in the East Asian populations.PLoS genetics · 2025Pooled it
- Genome-wide association study meta-analysis provides insights into the etiology of heart failure and its subtypes.Nature genetics · 2025Pooled it
- Effect of taurine administration on symptoms, severity, or clinical outcome of dilated cardiomyopathy and heart failure in humans: a systematic review.Wellcome open research · 2022Pooled it
- Genetic counselling implementation in dilated cardiomyopathy.European heart journal · 2026Review
- Emerging Mechanisms and Therapeutic Strategies in Dilated Cardiomyopathy.Biomedicines · 2026Review
- Genomic structural equation modeling reveals shared genetic structure of cardiac function and structure-function association studies of CLCNKA mutations.Scientific reports · 2026Article
- Genetics of Sudden Cardiac Death.Diseases (Basel, Switzerland) · 2025Review
- The Utility of Genome-Wide Association Studies in Inherited Arrhythmias and Cardiomyopathies.Genes · 2025Review
- Clinical care of family members of patients with dilated cardiomyopathy.European heart journal · 2025Article
- An African ancestry-specific nonsense variant in CD36 is associated with a higher risk of dilated cardiomyopathy.Nature genetics · 2025Article
- Polygenic Susceptibility in Peripartum, Alcohol-Induced, and Cancer Therapy-Related Cardiomyopathies.JAMA cardiology · 2025Article
- A Polygenic Risk Score to Predict Incident Heart Failure Across the Spectrum of Cardiovascular Risk.Journal of the American College of Cardiology · 2025Article
- Polygenic Risk Scores in Dilated Cardiomyopathy: Towards the Future.Current cardiology reports · 2025Review
- Single cell multiomics and 3D genome architecture reveal novel pathways of human heart failure.medRxiv : the preprint server for health sciences · 2025Article
- A Mendelian randomization analysis of cardiac MRI measurements as surrogate outcomes for heart failure and atrial fibrillation.Communications medicine · 2025Article
- Cardiac Fibrosis in the Multi-Omics Era: Implications for Heart Failure.Circulation research · 2025Review
- Epigenome-wide association study for dilated cardiomyopathy in left ventricular heart tissue identifies putative gene sets associated with cardiac pathology and early indicators of cardiac risk.Clinical epigenetics · 2025Article
- Pathophysiology of dilated cardiomyopathy: from mechanisms to precision medicine.Nature reviews. Cardiology · 2025Review
- Effect of high glucose on the gene expression profiling in cardiac fibroblasts from rats at different ages.PeerJ · 2025Article
Corrections and comments
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Authors and funding
76 authors at 20 institutions in 13 countries.
Sophie GarnierSorbonne Université, INSERM, UMR-S1166, Research Unit on Cardiovascular Disorders, Metabolism and Nutrition, Team Genomics & Pathophysiology of Cardiovascular Diseases, Paris 75013, France.ORCID 0000-0002-7492-1617
Magdalena HarakalovaDepartment of Cardiology, Division Heart & Lungs, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands.ORCID 0000-0002-7293-1029
Stefan WeissInterfaculty Institute for Genetics and Functional Genomics, Department of Functional Genomics, University Medicine Greifswald, Greifswald, Germany.
Michal MokryDepartment of Cardiology, Division Heart & Lungs, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands.
Vera Regitz-ZagrosekInstitute of Gender in Medicine and Center for Cardiovascular Research, Charite University Hospital, Berlin, Germany.ORCID 0000-0002-3566-3467
Christian HengstenbergDepartment of Internal Medicine, Division of Cardiology, Medical University of Vienna, Austria.ORCID 0000-0002-8284-2994
Thomas P CappolaPenn Cardiovascular Institute and Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Richard IsnardSorbonne Université, INSERM, UMR-S1166, Research Unit on Cardiovascular Disorders, Metabolism and Nutrition, Team Genomics & Pathophysiology of Cardiovascular Diseases, Paris 75013, France.ORCID 0000-0002-3439-8104
Eloisa ArbustiniIRCCS Fondazione Policlinico San Matteo, Pavia, Italy.ORCID 0000-0003-2948-7994
Stuart A CookNational Heart and Lung Institute, Imperial College London, London, UK.
Jessica van SettenDepartment of Cardiology, Division Heart & Lungs, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands.ORCID 0000-0002-4934-7510
Jorg J A CalisDepartment of Cardiology, Division Heart & Lungs, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands.ORCID 0000-0002-7741-3394
Hakon HakonarsonCenter for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.ORCID 0000-0003-2814-7461
Michael P MorleyPenn Cardiovascular Institute and Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Klaus StarkDepartment of Genetic Epidemiology, University of Regensburg, Regensburg, Germany.ORCID 0000-0002-7832-1942
Sanjay K PrasadNational Heart Centre Singapore, Singapore.
Jin LiCenter for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Declan P O'ReganMedical Research Council Clinical Sciences Centre, Faculty of Medicine, Imperial College London, South Kensington Campus, London SW7 2AZ, UK.
Maurizia GrassoCentre for Inherited Cardiovascular Diseases-IRCCS Fondazione Policlinico San Matteo, Pavia, Italy.ORCID 0000-0003-2611-4295
Martina Müller-NurasyidInstitute of Genetic Epidemiology, Helmholtz Zentrum München-German Research Center for Environmental Health, Neuherberg, Germany.
Thomas MeitingerInstitute of Genetic Epidemiology, Helmholtz Zentrum München-German Research Center for Environmental Health, Neuherberg, Germany.
Jean-Philippe EmpanaUniversité de Paris, INSERM, UMR-S970, Integrative Epidemiology of cardiovascular disease, Paris, France.ORCID 0000-0002-1469-7772
Konstantin StrauchInstitute of Genetic Epidemiology, Helmholtz Zentrum München-German Research Center for Environmental Health, Neuherberg, Germany.
Melanie WaldenbergerResearch unit of Molecular Epidemiology, Helmholtz Zentrum München-German Research Center for Environmental Health, Neuherberg, Germany.
Kenneth B MarguilesPenn Cardiovascular Institute and Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Christine E SeidmanDepartment of Medicine and Genetics Harvard Medical School, Boston, MA, USA.
Georgios KararigasDepartment of Physiology, Faculty of Medicine, University of Iceland, Vatnsmýrarvegur 16, 101 Reykjavík, Iceland.ORCID 0000-0002-8187-0176
Benjamin MederInstitute for Cardiomyopathies Heidelberg, Heidelberg University, Germany.
Jan HaasInstitute for Cardiomyopathies Heidelberg, Heidelberg University, Germany.ORCID 0000-0002-8040-8289
Pierre BoutouyrieUniversité de Paris, INSERM, UMR-S970, Integrative Epidemiology of cardiovascular disease, Paris, France.
Patrick LacolleyINSERM U1116, Faculté de Médecine, Vandoeuvre-les-Nancy, France.ORCID 0000-0002-2938-1383
Xavier JouvenUniversité de Paris, INSERM, UMR-S970, Integrative Epidemiology of cardiovascular disease, Paris, France.
Jeanette ErdmannMedizinische Klinik und Poliklinik, Universitätsmedizin der Johannes-Gutenberg Universität Mainz, Mainz, Germany.ORCID 0000-0002-4486-6231
Stefan BlankenbergMedizinische Klinik II, Universität Lübeck, Lübeck, Germany.
Thomas WichterDept. of Cardiology and Angiology, Niels-Stensen-Kliniken Marienhospital Osnabrück, Heart Centre Osnabrück/Bad Rothenfelde, Osnabrück 49074, Germany.
Volker RuppertKlinik für Innere Medizin-Kardiologie UKGM GmbH Standort Marburg Baldingerstrasse, Marburg, Germany.
Luigi TavazziMaria Cecilia Hospital, GVM Care and Research, Cotignola, Italy.
Olivier DubourgUniversité de Versailles-Saint Quentin, Hôpital Ambroise Paré, AP-HP, Boulogne, France.
Gérard RoizesInstitut de Génétique Humaine, UPR 1142, CNRS, Montpellier, France.ORCID 0000-0002-8335-8571
Richard DorentService de Cardiologie, CHU Tenon, Paris, France.ORCID 0000-0002-6159-1372
Pascal de GrooteService de Cardiologie, Hôpital Cardiologique, Lille, France.
Laurent FauchierService de Cardiologie, Centre Hospitalier Universitaire Trousseau, Tours, France.ORCID 0000-0002-9267-1658
Jean-Noël TrochuUniversité de Nantes, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes 44000, France.
Jean-François AupetitDépartement de pathologie cardiovasculaire, Hôpital Saint-Joseph-Saint-Luc, Lyon, France.
Zofia T BilinskaUnit for Screening Studies in Inherited Cardiovascular Diseases, National Institute of Cardiology, Warsaw, Poland.ORCID 0000-0003-1451-2069
Marine GermainUniv. Bordeaux, INSERM, BPH, U1219, Bordeaux 33000, France.
Uwe VölkerInterfaculty Institute for Genetics and Functional Genomics, Department of Functional Genomics, University Medicine Greifswald, Greifswald, Germany.
Daiane HemerichDepartment of Cardiology, Division Heart & Lungs, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands.ORCID 0000-0002-7929-8107
Ibticem RajiAP-HP, Département de Génétique, Centre de Référence Maladies Cardiaques Héréditaires, Hôpital Pitié-Salpêtrière, Paris, France.
Delphine Bacq-DaianCentre National de Recherche en Génomique Humaine (CNRGH), Institut de Biologie François Jacob, CEA, Université Paris-Saclay, Evry 91057, France.
Carole ProustUniv. Bordeaux, INSERM, BPH, U1219, Bordeaux 33000, France.
Paloma RemiorDepartment of Cardiology, Hospital Universitario Puerta de Hierro, CIBERCV, Madrid, Spain.
Manuel Gomez-BuenoDepartment of Cardiology, Hospital Universitario Puerta de Hierro, CIBERCV, Madrid, Spain.
Kristin LehnertDZHK (German Centre for Cardiovascular Research), partner site Greifswald, Greifswald, Germany.ORCID 0000-0003-2342-3949
Renee MaasDepartment of Cardiology, Division Heart & Lungs, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands.
Robert OlasoCentre National de Recherche en Génomique Humaine (CNRGH), Institut de Biologie François Jacob, CEA, Université Paris-Saclay, Evry 91057, France.
Ganapathi Varma SaripellaSorbonne Université, INSERM, UMR-S1166, Research Unit on Cardiovascular Disorders, Metabolism and Nutrition, Team Genomics & Pathophysiology of Cardiovascular Diseases, Paris 75013, France.ORCID 0000-0003-3504-9333
Stephan B FelixDZHK (German Centre for Cardiovascular Research), partner site Greifswald, Greifswald, Germany.
Steven McGinnCentre National de Recherche en Génomique Humaine (CNRGH), Institut de Biologie François Jacob, CEA, Université Paris-Saclay, Evry 91057, France.
Laëtitia Duboscq-BidotSorbonne Université, INSERM, UMR-S1166, Research Unit on Cardiovascular Disorders, Metabolism and Nutrition, Team Genomics & Pathophysiology of Cardiovascular Diseases, Paris 75013, France.ORCID 0000-0001-6279-1408
Alain van MilDepartment of Cardiology, Division Heart & Lungs, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands.ORCID 0000-0001-9906-5047
Céline BesseCentre National de Recherche en Génomique Humaine (CNRGH), Institut de Biologie François Jacob, CEA, Université Paris-Saclay, Evry 91057, France.ORCID 0000-0002-1953-1931
Vincent FontaineSorbonne Université, INSERM, UMR-S1166, Research Unit on Cardiovascular Disorders, Metabolism and Nutrition, Team Genomics & Pathophysiology of Cardiovascular Diseases, Paris 75013, France.
Hélène BlanchéLaboratory of Excellence GENMED (Medical Genomics).
Flavie AderSorbonne Université, INSERM, UMR-S1166, Research Unit on Cardiovascular Disorders, Metabolism and Nutrition, Team Genomics & Pathophysiology of Cardiovascular Diseases, Paris 75013, France.
Brendan KeatingDivision of Transplantation, Department of Surgery, University of Pennsylvania, Philadelphia, PA, USA.
Angélique CurjolAP-HP, Département de Génétique, Centre de Référence Maladies Cardiaques Héréditaires, Hôpital Pitié-Salpêtrière, Paris, France.
Anne BolandCentre National de Recherche en Génomique Humaine (CNRGH), Institut de Biologie François Jacob, CEA, Université Paris-Saclay, Evry 91057, France.ORCID 0000-0001-8789-5676
Michel KomajdaSorbonne Université, INSERM, UMR-S1166, Research Unit on Cardiovascular Disorders, Metabolism and Nutrition, Team Genomics & Pathophysiology of Cardiovascular Diseases, Paris 75013, France.ORCID 0000-0002-3010-5589
François CambienUniv. Bordeaux, INSERM, BPH, U1219, Bordeaux 33000, France.
Jean-François DeleuzeCentre National de Recherche en Génomique Humaine (CNRGH), Institut de Biologie François Jacob, CEA, Université Paris-Saclay, Evry 91057, France.
Marcus DörrDZHK (German Centre for Cardiovascular Research), partner site Greifswald, Greifswald, Germany.
Folkert W AsselbergsDepartment of Cardiology, Division Heart & Lungs, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands.
Eric VillardSorbonne Université, INSERM, UMR-S1166, Research Unit on Cardiovascular Disorders, Metabolism and Nutrition, Team Genomics & Pathophysiology of Cardiovascular Diseases, Paris 75013, France.
David-Alexandre TrégouëtUniv. Bordeaux, INSERM, BPH, U1219, Bordeaux 33000, France.
Philippe CharronSorbonne Université, INSERM, UMR-S1166, Research Unit on Cardiovascular Disorders, Metabolism and Nutrition, Team Genomics & Pathophysiology of Cardiovascular Diseases, Paris 75013, France.ORCID 0000-0002-1782-1118
Inserm · FRUtrecht University · NLCommissariat à l'Énergie Atomique et aux Énergies Alternatives · FRUniversitätsmedizin Greifswald · DEUniversité de Bordeaux · FRUniversity of Pennsylvania · USSorbonne Université · FRCentre National de la Recherche Scientifique · FRCentro de Investigación en Red en Enfermedades Cardiovasculares · ESChildren's Hospital of Philadelphia · USHeidelberg University · DEHelmholtz Zentrum München · DEJohannes Gutenberg University Mainz · DEPoliclinico San Matteo Fondazione · ITUniversity of Regensburg · DEAssistance Publique – Hôpitaux de Paris · FRCentre Hospitalier Universitaire de Tours · FRDélégation Paris 5 · FRDuke-NUS Medical School · SGFondation Jean Dausset-CEPH · FR
Funding
MTSS1 in Myocardial DiseaseR01HL141232 · NHLBI · UNIVERSITY OF PENNSYLVANIA · PI THOMAS P. CAPPOLA, Scott Michael Damrauer · 2019 to 2026
$4.7MBritish Heart Foundation NH/17/1/32725British Heart Foundation RG/19/6/34387Medical Research Council MC-A651-53301Medical Research Council MC_U120085815Medical Research Council MC_UP_1605/13NHLBI NIH HHS R01 HL141232
Abstract
aimsOur objective was to better understand the genetic bases of dilated cardiomyopathy (DCM), a leading cause of systolic heart failure. METHODS AND
resultsWe conducted the largest genome-wide association study performed so far in DCM, with 2719 cases and 4440 controls in the discovery population. We identified and replicated two new DCM-associated loci on chromosome 3p25.1 [lead single-nucleotide polymorphism (SNP) rs62232870, P = 8.7 × 10-11 and 7.7 × 10-4 in the discovery and replication steps, respectively] and chromosome 22q11.23 (lead SNP rs7284877, P = 3.3 × 10-8 and 1.4 × 10-3 in the discovery and replication steps, respectively), while confirming two previously identified DCM loci on chromosomes 10 and 1, BAG3 and HSPB7. A genetic risk score constructed from the number of risk alleles at these four DCM loci revealed a 3-fold increased risk of DCM for individuals with 8 risk alleles compared to individuals with 5 risk alleles (median of the referral population). In silico annotation and functional 4C-sequencing analyses on iPSC-derived cardiomyocytes identify SLC6A6 as the most likely DCM gene at the 3p25.1 locus. This gene encodes a taurine transporter whose involvement in myocardial dysfunction and DCM is supported by numerous observations in humans and animals. At the 22q11.23 locus, in silico and data mining annotations, and to a lesser extent functional analysis, strongly suggest SMARCB1 as the candidate culprit gene.
conclusionThis study provides a better understanding of the genetic architecture of DCM and sheds light on novel biological pathways underlying heart failure.
Indexed as
Cardiomyopathy, DilatedHeart Failure, SystolicAdaptor Proteins, Signal TransducingAnimalsApoptosis Regulatory ProteinsChromosomesGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansPolymorphism, Single NucleotideAdaptor Proteins, Signal TransducingApoptosis Regulatory ProteinsBAG3 protein, human4C-sequencingDilated cardiomyopathyGenetic risk scoreGWASHeart failureImputation
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