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Genome Wide Association Analysis in Dilated Cardiomyopathy Reveals Two bioRxiv preprint doi: https://doi.org/10.1101/2020.02.28.969147; this version posted February 28, 2020. The copyright holder for this preprint (which was not certified by peer review) is the author/funder. All rights reserved. No reuse allowed without permission. Genome wide association analysis in dilated cardiomyopathy reveals two new key players in systolic heart failure on chromosome 3p25.1 and 22q11.23 Sophie Garnier1,2*, Magdalena Harakalova3,4, Stefan Weiss5,6, Michal Mokry3,7,8, Vera Regitz- Zagrosek9,10, Christian Hengstenberg11,12, Thomas P Cappola13, Richard Isnard1,2,14, Eloisa Arbustini15, Stuart A. Cook16-18, Jessica van Setten3, Jörg Callis3,4, Hakon Hakonarson19, Michael P Morley13, Klaus Stark20, Sanjay K. Prasad17,21, Jin Li19, Declan P O'Regan22, Maurizia Grasso23, Martina Müller-Nurasyid24- 26, Thomas Meitinger24,25,27, Jean-Philippe Empana28, Konstantin Strauch24,25,29, Mélanie Waldenberger30,31, Kenneth B Marguiles13, Christine E. Seidman32,33, Benjamin Meder34, Pierre Boutouyrie28,35, Patrick Lacolley36, Xavier Jouven28,35, Jeanette Erdman37, Stefan Blankenberg38, Thomas Wichter39, Volker Ruppert40, Luigi Tavazzi41, Olivier Dubourg42, Gerard Roizes43, Richard Dorent44, Pascal DeGroote45, Laurent Fauchier46, Jean-Noël Trochu47,48, Jean-François Aupetit49, Marine Germain50, Uwe Völker5,6, Hemerich Daiane3, Ibticem Raji51, Delphine Bacq-Daian52,53, Carole Proust50, Kristin Lehnert6,54, Renee Maas3,4, Robert Olaso52,53, Ganapathivarma Saripella1,55, Stephan B. Felix6,54, Steven Mc Ginn52,53, Laëtitia Duboscq-Bidot1,2,14, Alain van Mil3,4, Céline Besse52,53, Vincent Fontaine1,2, Hélène Blanché53,56, Brendan Keating57, Pablo Garcia-Pavia58,59#, Angélique Curjol51, Anne Boland52,53, Michel Komajda1,2,60, François Cambien50, Jean-François Deleuze52,53,56, Marcus Dörr6,54, Folkert W Asselbergs3,61,62, Eric Villard1,2,14$, David-Alexandre Trégouët50$ and Philippe Charron1,2,14,51#*$. On behalf of GENMED consortium. Affiliations: 1. Sorbonne Université, INSERM, UMR-S1166, research unit on cardiovascular disorders, metabolism and nutrition, Team Genomics & Pathophysiology of Cardiovascular Diseases, F-75013, Paris, France. 2. ICAN Institute for Cardiometabolism and Nutrition, F-75013, Paris, France. 3. Department of Cardiology, Division Heart & Lungs, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands bioRxiv preprint doi: https://doi.org/10.1101/2020.02.28.969147; this version posted February 28, 2020. The copyright holder for this preprint (which was not certified by peer review) is the author/funder. All rights reserved. No reuse allowed without permission. 4. Regenerative Medicine Center, University Medical Center Utrecht, Utrecht, the Netherlands 5. Interfaculty Institute for Genetics and Functional Genomics, Department of Functional Genomics, University Medicine Greifswald, Greifswald, Germany 6. DZHK (German Centre for Cardiovascular Research), partnersite Greifswald, Greifswald, Germany 7. Laboratory of Clinical Chemistry and Haematology, University Medical Center, Heidelberglaan 100, Utrecht, The Netherlands 8. Laboratory of Experimental Cardiology, University Medical Center Utrecht, Heidelberglaan 100, Utrecht, The Netherlands 9. Institute of Gender in Medicine and Center for Cardiovascular Research, Charite University Hospital, Berlin, Germany 10. DZHK (German Center for Cardiovascular Research), Berlin, Germany 11. Department of Internal Medicine, Division of Cardiology, Medical University of Vienna, Austria 12. Department of Internal Medicine, Medical University of Regensburg, Germany 13. Penn Cardiovascular Institute and Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, USA. 14. APHP, Pitié-Salpêtrière Hospital, Cardiology Department, Paris, France 15. IRCCS Fondazione Policlinico San Matteo, Pavia, Italy. 16. National Heart and Lung Institute, Imperial College London, London, UK. 17. National Heart Centre Singapore, Singapore. 18. Duke-NUS, Singapore. 19. Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, USA. 20. Department of Genetic Epidemiology, University of Regensburg, Regensburg, Germany. bioRxiv preprint doi: https://doi.org/10.1101/2020.02.28.969147; this version posted February 28, 2020. The copyright holder for this preprint (which was not certified by peer review) is the author/funder. All rights reserved. No reuse allowed without permission. 21. Royal Brompton Hospital, London, UK 22. Medical Research Council Clinical Sciences Centre, Faculty of Medicine, Imperial College London, London, UK 23. Centre for Inherited Cardiovascular Diseases - IRCCS Fondazione Policlinico San Matteo, Pavia, Italy 24. Institute of Genetic Epidemiology, Helmholtz Zentrum München - German Research Center for Environmental Health, Neuherberg, Germany 25. Chair of Genetic Epidemiology, IBE, Faculty of Medicine, LMU Munich, Germany. 26. Department of Internal Medicine I (Cardiology), Hospital of the Ludwig-Maximilians-University (LMU) Munich, Munich, Germany 27. Institute of Human Genetics, Klinikum rechts der Isar, Technische Universität München, Munich, Germany 28. Université de Paris, INSERM, UMR-S970, Integrative Epidemiology of cardiovascular disease, Paris, France 29. Institute of Medical Biostatistics, Epidemiology and Informatics (IMBEI), University Medical Center, Johannes Gutenberg University, 55101 Mainz, Germany 30. Research unit of Molecular Epidemiology, Helmholtz Zentrum München - German Research Center for Environmental Health, Neuherberg, Germany 31. DZHK (German Centre for Cardiovascular Research), partner site Munich Heart Alliance, Munich, Germany 32. Department of Medecine and Genetics Harvard Medical School, Boston, USA. 33. Brigham & Women's Cardiovascular Genetics Center, Boston, USA. 34. Institute for Cardiomyopathies Heidelberg, Heidelberg University, Germany & Stanford Genome Technology Center, Department of Genetics, Stanford Medical School, California, USA bioRxiv preprint doi: https://doi.org/10.1101/2020.02.28.969147; this version posted February 28, 2020. The copyright holder for this preprint (which was not certified by peer review) is the author/funder. All rights reserved. No reuse allowed without permission. 35. APHP, Georges Pompidou European Hospital, Cardiology Department, Paris, France 36. INSERM U1116, Faculté de Médecine, Vandoeuvre-les-Nancy, Paris, France 37. Medizinische Klinik und Poliklinik, Universitätsmedizin der Johannes-Gutenberg Universität Mainz, Mainz, Germany 38. Medizinische Klinik II, Universität Lübeck, Lübeck, Germany 39. Dept. of Cardiology and Angiology Niels-Stensen-Kliniken Marienhospital Osnabrück, Heart Centre Osnabrück / Bad Rothenfelde, Dept. of Cardiology and Angiology, D-49074, Osnabrück, Germany 40. Klinik für Innere Medizin-Kardiologie UKGM GmbH Standort Marburg Baldingerstrasse, Marburg, Germany 41. Maria Cecilia Hospital, GVM Care and Research, Cotignola, Italy 42. Université de Versailles-Saint Quentin, Hôpital Ambroise Paré, AP-HP, Boulogne, France 43. Institut de Génétique Humaine, UPR 1142, CNRS, Montpellier, France 44. Service de Cardiologie, CHU Tenon, Paris, France 45. Service de Cardiologie, Hôpital Cardiologique, Lille, France 46. Service de Cardiologie, Centre Hospitalier Universitaire Trousseau, Tours, France 47. INSERM UMR915, l’institut du thorax, Nantes, France 48. CHU Nantes, Service de Cardiologie, Nantes, France 49. Département de pathologie cardiovasculaire, Hôpital Saint-Joseph-Saint-Luc, Lyon, France 50. INSERM UMR_S 1219, Bordeaux Population Health Research Center, University of Bordeaux, Bordeaux, France bioRxiv preprint doi: https://doi.org/10.1101/2020.02.28.969147; this version posted February 28, 2020. The copyright holder for this preprint (which was not certified by peer review) is the author/funder. All rights reserved. No reuse allowed without permission. 51. AP-HP, Département de génétique, Centre de Référence Maladies Cardiaques Héréditaires, Hôpital Pitié-Salpêtrière, Paris, France. 52. Centre National de Recherche en Génomique Humaine (CNRGH), Institut de Biologie François Jacob, CEA, Université Paris-Saclay, F-91057, Evry, France 53. Laboratory of Excellence GENMED (Medical Genomics) 54. Department of Internal Medicine B, University Medicine Greifswald, Greifswald, Germany 55. SLU Bioinformatics Infrastructure (SLUBI), PlantLink, Department of Plant Breeding, Swedish University of Agricultural Sciences, Alnarp, Sweden (current affiliation) 56. Centre d'Etude du Polymorphisme Humain, Fondation Jean Dausset, Paris, France 57. Division of Transplantation, Departments of Surgery, University of Pennsylvania, Philadelphia, the United States 58. Department of Cardiology, Hospital Univeersitario Puerta de Hierro, CIBERCV, Madrid, Spain 59. Universidad Francisco de Vitoria (UFV), Pozuelo de Alarcón, Spain 60. Cardiology Department, Groupe Hospitaler Paris Saint Joseph, Paris, France 61. Institute of Cardiovascular Science, Faculty of Population Health Sciences, University College London, London, United Kingdom 62. Health Data Research UK and Institute of Health Informatics, University College London, London, United Kingdom #Member of European Reference Networks for rare, low prevalence and complex diseases of the heart (ERN GUARD-Heart) $ These authors equally contributed to the work bioRxiv preprint doi: https://doi.org/10.1101/2020.02.28.969147; this version posted February 28, 2020. The copyright holder for this preprint (which was not certified by peer review) is the author/funder. All rights reserved.
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