Genome-wide association study reveals mechanisms underlying dilated cardiomyopathy and myocardial resilience.

Autor: Jurgens SJ; Department of Experimental Cardiology, Amsterdam Cardiovascular Sciences, Heart Failure & Arrhythmias, Amsterdam UMC location, University of Amsterdam, Amsterdam, the Netherlands.; Cardiovascular Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Cardiovascular Research Center, Massachusetts General Hospital, Boston, MA, USA., Rämö JT; Cardiovascular Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Cardiovascular Research Center, Massachusetts General Hospital, Boston, MA, USA.; Institute for Molecular Medicine Finland (FIMM), Helsinki Institute of Life Science (HiLIFE), University of Helsinki, Helsinki, Finland., Kramarenko DR; Department of Experimental Cardiology, Amsterdam Cardiovascular Sciences, Heart Failure & Arrhythmias, Amsterdam UMC location, University of Amsterdam, Amsterdam, the Netherlands.; European Reference Network for rare low prevalence and complex diseases of the heart: ERN GUARD-Heart, Amsterdam, the Netherlands., Wijdeveld LFJM; Cardiovascular Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Department of Physiology, Amsterdam UMC location, Vrije Universiteit, Amsterdam, the Netherlands., Haas J; Department of Medicine III, Institute for Cardiomyopathies Heidelberg (ICH), University Hospital Heidelberg, Heidelberg, Germany.; Site Heidelberg/Mannheim, DZHK, Heidelberg, Germany., Chaffin MD; Cardiovascular Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Garnier S; Research Unit on Cardiovascular Disorders, Metabolism and Nutrition, Team Genomics and Pathophysiology of Cardiovascular Disease, Sorbone Université, INSERM, Paris, France.; ICAN Institute for Cardiometabolism and Nutrition, Paris, France., Gaziano L; Cardiovascular Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Cardiovascular Research Center, Massachusetts General Hospital, Boston, MA, USA., Weng LC; Cardiovascular Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Cardiovascular Research Center, Massachusetts General Hospital, Boston, MA, USA., Lipov A; Department of Experimental Cardiology, Amsterdam Cardiovascular Sciences, Heart Failure & Arrhythmias, Amsterdam UMC location, University of Amsterdam, Amsterdam, the Netherlands., Zheng SL; National Heart and Lung Institute, Imperial College London, London, UK.; MRC Laboratory of Medical Sciences, Imperial College London, London, UK.; Royal Brompton and Harefield Hospitals, Guy's and St. Thomas' NHS Foundation Trust, London, UK., Henry A; Institute of Cardiovascular Science, University College London, London, UK.; Institute of Health Informatics, University College London, London, UK., Huffman JE; Massachusetts Veterans Epidemiology Research and Information Center (MAVERIC), VA Boston Healthcare System, Boston, MA, USA.; Palo Alto Veterans Institute for Research (PAVIR), Palo Alto Health Care System, Palo Alto, CA, USA.; Harvard Medical School, Boston, MA, USA., Challa S; Cardiovascular Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Rühle F; Bioinformatics Core Facility, Institute of Molecular Biology gGmbH (IMB), Mainz, Germany.; Department of Genetic Epidemiology, Institute of Human Genetics, University of Münster, Münster, Germany., Verdugo CD; Cardiovascular Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Krijger Juárez C; Department of Experimental Cardiology, Amsterdam Cardiovascular Sciences, Heart Failure & Arrhythmias, Amsterdam UMC location, University of Amsterdam, Amsterdam, the Netherlands., Kany S; Cardiovascular Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Cardiovascular Research Center, Massachusetts General Hospital, Boston, MA, USA.; Department of Cardiology, University Heart and Vascular Center, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., van Orsouw CA; Department of Clinical Genetics, Amsterdam UMC location, University of Amsterdam, Amsterdam, the Netherlands., Biddinger K; Cardiovascular Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Poel E; Department of Experimental Cardiology, Amsterdam Cardiovascular Sciences, Heart Failure & Arrhythmias, Amsterdam UMC location, University of Amsterdam, Amsterdam, the Netherlands., Elliott AL; Institute for Molecular Medicine Finland (FIMM), Helsinki Institute of Life Science (HiLIFE), University of Helsinki, Helsinki, Finland.; Harvard Medical School, Boston, MA, USA.; Department of Psychiatry and Center for Genomic Medicine, Psychiatric and Neurodevelopmental Genetics Unit, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA, USA.; Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, MA, USA., Wang X; Cardiovascular Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Francis C; National Heart and Lung Institute, Imperial College London, London, UK.; Royal Brompton and Harefield Hospitals, Guy's and St. Thomas' NHS Foundation Trust, London, UK., Ruan R; Cardiovascular Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Koyama S; Cardiovascular Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Cardiovascular Research Center, Massachusetts General Hospital, Boston, MA, USA., Beekman L; Department of Experimental Cardiology, Amsterdam Cardiovascular Sciences, Heart Failure & Arrhythmias, Amsterdam UMC location, University of Amsterdam, Amsterdam, the Netherlands., Zimmerman DS; Department of Experimental Cardiology, Amsterdam Cardiovascular Sciences, Heart Failure & Arrhythmias, Amsterdam UMC location, University of Amsterdam, Amsterdam, the Netherlands., Deleuze JF; CEA, Centre National de Recherche en Génomique Humaine, Université Paris-Saclay, Evry, France.; Laboratory of Excellence in Medical Genomics, GENMED, Evry, France.; Fondation Jean Dausset, Centre d'Etude du Polymorphisme Humain, Paris, France., Villard E; Research Unit on Cardiovascular Disorders, Metabolism and Nutrition, Team Genomics and Pathophysiology of Cardiovascular Disease, Sorbone Université, INSERM, Paris, France.; ICAN Institute for Cardiometabolism and Nutrition, Paris, France., Trégouët DA; Laboratory of Excellence in Medical Genomics, GENMED, Evry, France.; Bordeaux Population Health Research Center, UMR 1219, University of Bordeaux, INSERM, Bordeaux, France., Isnard R; Research Unit on Cardiovascular Disorders, Metabolism and Nutrition, Team Genomics and Pathophysiology of Cardiovascular Disease, Sorbone Université, INSERM, Paris, France.; ICAN Institute for Cardiometabolism and Nutrition, Paris, France.; APHP, Cardiology and Genetics Departments, Pitié-Salpêtrière Hospital, Paris, France., Boomsma DI; Department of Biological Psychology, Vrije Universiteit Amsterdam, Amsterdam, the Netherlands., de Geus EJC; Department of Biological Psychology, Vrije Universiteit Amsterdam, Amsterdam, the Netherlands.; Amsterdam Public Health Research Institute, Amsterdam UMC location, Vrije Universiteit, Amsterdam, the Netherlands., Tadros R; Department of Experimental Cardiology, Amsterdam Cardiovascular Sciences, Heart Failure & Arrhythmias, Amsterdam UMC location, University of Amsterdam, Amsterdam, the Netherlands.; Cardiovascular Genetics Centre, Montreal Heart Institute, Montreal, QC, Canada.; Faculty of Medicine, Université de Montréal, Montreal, QC, Canada., Pinto YM; Department of Experimental Cardiology, Amsterdam Cardiovascular Sciences, Heart Failure & Arrhythmias, Amsterdam UMC location, University of Amsterdam, Amsterdam, the Netherlands.; European Reference Network for rare low prevalence and complex diseases of the heart: ERN GUARD-Heart, Amsterdam, the Netherlands.; Department of Clinical Cardiology, Amsterdam Cardiovascular Sciences, Heart Failure and Arrhythmias, Amsterdam UMC location, University of Amsterdam, Amsterdam, the Netherlands., Wilde AAM; Department of Experimental Cardiology, Amsterdam Cardiovascular Sciences, Heart Failure & Arrhythmias, Amsterdam UMC location, University of Amsterdam, Amsterdam, the Netherlands.; European Reference Network for rare low prevalence and complex diseases of the heart: ERN GUARD-Heart, Amsterdam, the Netherlands.; Department of Clinical Cardiology, Amsterdam Cardiovascular Sciences, Heart Failure and Arrhythmias, Amsterdam UMC location, University of Amsterdam, Amsterdam, the Netherlands., Hottenga JJ; Department of Biological Psychology, Vrije Universiteit Amsterdam, Amsterdam, the Netherlands.; The Netherlands Twin Register, Vrije Universiteit Amsterdam, Amsterdam, the Netherlands., Sinisalo J; Department of Cardiology, Helsinki University Hospital, Helsinki, Finland.; Heart and Lung Center, Helsinki University Hospital and Helsinki University, Helsinki, Finland., Niiranen T; Department of Internal Medicine, University of Turku, Helsinki, Finland.; Division of Medicine, Turku University Hospital, Helsinki, Finland.; Finnish Institute for Health and Welfare (THL), Helsinki, Finland., Walsh R; Department of Experimental Cardiology, Amsterdam Cardiovascular Sciences, Heart Failure & Arrhythmias, Amsterdam UMC location, University of Amsterdam, Amsterdam, the Netherlands., Schmidt AF; Department of Clinical Cardiology, Amsterdam Cardiovascular Sciences, Heart Failure and Arrhythmias, Amsterdam UMC location, University of Amsterdam, Amsterdam, the Netherlands.; Institute of Cardiovascular Science, Faculty of Population Health, University College London, London, UK.; University College London British Heart Foundation Research Accelerator, London, UK.; Department of Cardiology, Division Heart and Lungs, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands., Choi SH; Cardiovascular Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Department of Biostatistics, Boston University, Boston, MA, USA., Chang KM; Corporal Michael J. Crescenz VA Medical Center, Philadelphia, PA, USA.; Department of Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA., Tsao PS; Palo Alto Health Care System, Palo Alto, CA, USA.; Department of Medicine and Cardiovascular Institute, Stanford University School of Medicine, Stanford, CA, USA., Matthews PM; National Heart and Lung Institute, Imperial College London, London, UK.; MRC Laboratory of Medical Sciences, Imperial College London, London, UK., Ware JS; National Heart and Lung Institute, Imperial College London, London, UK.; MRC Laboratory of Medical Sciences, Imperial College London, London, UK.; Royal Brompton and Harefield Hospitals, Guy's and St. Thomas' NHS Foundation Trust, London, UK.; Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA, USA., Lumbers RT; Institute of Health Informatics, University College London, London, UK.; The National Institute for Health Research, University College London Hospitals Biomedical Research Centre, University College London, London, UK., van der Crabben S; Department of Clinical Genetics, Amsterdam UMC location, University of Amsterdam, Amsterdam, the Netherlands., Laukkanen J; Department of Medicine, Institute of Clinical Medicine, University of Eastern Finland, Kuopio, Finland.; Central Finland Biobank, Central Finland Health Care District, Jyväskylä, Finland., Palotie A; Institute for Molecular Medicine Finland (FIMM), Helsinki Institute of Life Science (HiLIFE), University of Helsinki, Helsinki, Finland.; Program in Medical and Population Genetics and Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA., Amin AS; Department of Experimental Cardiology, Amsterdam Cardiovascular Sciences, Heart Failure & Arrhythmias, Amsterdam UMC location, University of Amsterdam, Amsterdam, the Netherlands.; European Reference Network for rare low prevalence and complex diseases of the heart: ERN GUARD-Heart, Amsterdam, the Netherlands.; Department of Clinical Cardiology, Amsterdam Cardiovascular Sciences, Heart Failure and Arrhythmias, Amsterdam UMC location, University of Amsterdam, Amsterdam, the Netherlands., Charron P; Research Unit on Cardiovascular Disorders, Metabolism and Nutrition, Team Genomics and Pathophysiology of Cardiovascular Disease, Sorbone Université, INSERM, Paris, France.; ICAN Institute for Cardiometabolism and Nutrition, Paris, France.; APHP, Cardiology and Genetics Departments, Pitié-Salpêtrière Hospital, Paris, France., Meder B; Department of Medicine III, Institute for Cardiomyopathies Heidelberg (ICH), University Hospital Heidelberg, Heidelberg, Germany.; Site Heidelberg/Mannheim, DZHK, Heidelberg, Germany., Ellinor PT; Cardiovascular Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, MA, USA. ellinor@mgh.harvard.edu.; Cardiovascular Research Center, Massachusetts General Hospital, Boston, MA, USA. ellinor@mgh.harvard.edu., Daly M; Institute for Molecular Medicine Finland (FIMM), Helsinki Institute of Life Science (HiLIFE), University of Helsinki, Helsinki, Finland. mark.daly@helsinki.fi.; Program in Medical and Population Genetics and Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, MA, USA. mark.daly@helsinki.fi.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA. mark.daly@helsinki.fi., Aragam KG; Cardiovascular Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, MA, USA. karagam@broadinstitute.org.; Cardiovascular Research Center, Massachusetts General Hospital, Boston, MA, USA. karagam@broadinstitute.org., Bezzina CR; Department of Experimental Cardiology, Amsterdam Cardiovascular Sciences, Heart Failure & Arrhythmias, Amsterdam UMC location, University of Amsterdam, Amsterdam, the Netherlands. c.r.bezzina@amsterdamumc.nl.; European Reference Network for rare low prevalence and complex diseases of the heart: ERN GUARD-Heart, Amsterdam, the Netherlands. c.r.bezzina@amsterdamumc.nl.

Publikováno v: Nature genetics [Nat Genet] 2024 Nov 21. Date of Electronic Publication: 2024 Nov 21.

Rare coding variant analysis for human diseases across biobanks and ancestries.

Autor: Jurgens SJ; Cardiovascular Disease Initiative, The Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Department of Experimental Cardiology, Heart Center, Amsterdam Cardiovascular Sciences, Heart Failure and Arrhythmias, Amsterdam UMC location University of Amsterdam, Amsterdam, The Netherlands.; Cardiovascular Research Center, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA., Wang X; Cardiovascular Disease Initiative, The Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Cardiovascular Research Center, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA., Choi SH; Cardiovascular Disease Initiative, The Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Department of Biostatistics, Boston University School of Public Health, Boston, MA, USA., Weng LC; Cardiovascular Disease Initiative, The Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Cardiovascular Research Center, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA., Koyama S; Cardiovascular Disease Initiative, The Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Cardiovascular Research Center, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA., Pirruccello JP; Cardiovascular Disease Initiative, The Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Division of Cardiology, University of California, San Francisco, CA, USA., Nguyen T; Metabolism Program, The Broad Institute of Harvard and MIT, Cambridge, MA, USA., Smadbeck P; Metabolism Program, The Broad Institute of Harvard and MIT, Cambridge, MA, USA., Jang D; Metabolism Program, The Broad Institute of Harvard and MIT, Cambridge, MA, USA.; Program in Medical and Population Genetics, The Broad Institute of Harvard and MIT, Cambridge, MA, USA., Chaffin M; Cardiovascular Disease Initiative, The Broad Institute of MIT and Harvard, Cambridge, MA, USA., Walsh R; Department of Experimental Cardiology, Heart Center, Amsterdam Cardiovascular Sciences, Heart Failure and Arrhythmias, Amsterdam UMC location University of Amsterdam, Amsterdam, The Netherlands., Roselli C; Cardiovascular Disease Initiative, The Broad Institute of MIT and Harvard, Cambridge, MA, USA., Elliott AL; Program in Medical and Population Genetics, The Broad Institute of Harvard and MIT, Cambridge, MA, USA.; Department of Psychiatry and Center for Genomic Medicine, Psychiatric and Neurodevelopmental Genetics Unit, Massachusetts General Hospital,Harvard Medical School, Boston, MA, USA.; Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, MA, USA.; Institute for Molecular Medicine Finland (FIMM), Helsinki Institute of Life Science (HiLIFE), University of Helsinki, Helsinki, Finland., Wijdeveld LFJM; Cardiovascular Disease Initiative, The Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Department of Physiology, Amsterdam UMC location VU, Amsterdam, The Netherlands., Biddinger KJ; Cardiovascular Disease Initiative, The Broad Institute of MIT and Harvard, Cambridge, MA, USA., Kany S; Cardiovascular Disease Initiative, The Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Department of Cardiology, University Heart and Vascular Center Hamburg-Eppendorf, Hamburg, Germany.; German Center for Cardiovascular Research (DZHK), Partner Site Hamburg/Kiel/Lübeck, Hamburg, Germany., Rämö JT; Cardiovascular Disease Initiative, The Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Cardiovascular Research Center, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.; Institute for Molecular Medicine Finland (FIMM), Helsinki Institute of Life Science (HiLIFE), University of Helsinki, Helsinki, Finland., Natarajan P; Cardiovascular Disease Initiative, The Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Cardiovascular Research Center, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA., Aragam KG; Cardiovascular Disease Initiative, The Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Cardiovascular Research Center, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA., Flannick J; Metabolism Program, The Broad Institute of Harvard and MIT, Cambridge, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA., Burtt NP; Metabolism Program, The Broad Institute of Harvard and MIT, Cambridge, MA, USA.; Program in Medical and Population Genetics, The Broad Institute of Harvard and MIT, Cambridge, MA, USA., Bezzina CR; Department of Experimental Cardiology, Heart Center, Amsterdam Cardiovascular Sciences, Heart Failure and Arrhythmias, Amsterdam UMC location University of Amsterdam, Amsterdam, The Netherlands., Lubitz SA; Cardiovascular Disease Initiative, The Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Cardiovascular Research Center, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.; Demoulas Center for Cardiac Arrhythmias, Massachusetts General Hospital, Boston, MA, USA., Lunetta KL; Department of Biostatistics, Boston University School of Public Health, Boston, MA, USA.; NHLBI and Boston University's Framingham Heart Study, Framingham, MA, USA., Ellinor PT; Cardiovascular Disease Initiative, The Broad Institute of MIT and Harvard, Cambridge, MA, USA. ellinor@mgh.harvard.edu.; Cardiovascular Research Center, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA. ellinor@mgh.harvard.edu.; Demoulas Center for Cardiac Arrhythmias, Massachusetts General Hospital, Boston, MA, USA. ellinor@mgh.harvard.edu.

Publikováno v: Nature genetics [Nat Genet] 2024 Sep; Vol. 56 (9), pp. 1811-1820. Date of Electronic Publication: 2024 Aug 29.

Cytoskeletal Protein Variants Driving Atrial Fibrillation: Potential Mechanisms of Action.

Autor: van Wijk SW; Department of Physiology, Amsterdam Cardiovascular Sciences, Amsterdam University Medical Centers, Vrije Universiteit Amsterdam, 1081 HV Amsterdam, The Netherlands., Su W; Department of Physiology, Amsterdam Cardiovascular Sciences, Amsterdam University Medical Centers, Vrije Universiteit Amsterdam, 1081 HV Amsterdam, The Netherlands., Wijdeveld LFJM; Department of Physiology, Amsterdam Cardiovascular Sciences, Amsterdam University Medical Centers, Vrije Universiteit Amsterdam, 1081 HV Amsterdam, The Netherlands., Ramos KS; Department of Physiology, Amsterdam Cardiovascular Sciences, Amsterdam University Medical Centers, Vrije Universiteit Amsterdam, 1081 HV Amsterdam, The Netherlands., Brundel BJJM; Department of Physiology, Amsterdam Cardiovascular Sciences, Amsterdam University Medical Centers, Vrije Universiteit Amsterdam, 1081 HV Amsterdam, The Netherlands.

Publikováno v: Cells [Cells] 2022 Jan 25; Vol. 11 (3). Date of Electronic Publication: 2022 Jan 25.