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Genome-wide association and Mendelian randomisation analysis provide insights into the pathogenesis of heart failure

Authors :
Shah, Sonia
Henry, Albert
Roselli, Carolina
Lin, Honghuang
Sveinbjornsson, Gardar
Fatemifar, Ghazaleh
Hedman, Asa K
Wilk, Jemma B
Morley, Michael P
Chaffin, Mark D
Helgadottir, Anna
Verweij, Niek
Dehghan, Abbas
Almgren, Peter
Andersson, Charlotte
Aragam, Krishna G
Arnlov, Johan
Backman, Joshua D
Biggs, Mary L
Bloom, Heather L
Brandimarto, Jeffrey
Brown, Michael R
Buckbinder, Leonard
Carey, David J
Chasman, Daniel I
Chen, Xing
Chen, Xu
Chung, Jonathan
Chutkow, William
Cook, James P
Delgado, Graciela E
Denaxas, Spiros
Doney, Alexander S
Doerr, Marcus
Dudley, Samuel C
Dunn, Michael E
Engstrom, Gunnar
Esko, Tonu
Felix, Stephan B
Finan, Chris
Ford, Ian
Ghanbari, Mohsen
Ghasemi, Sahar
Giedraitis, Vilmantas
Giulianini, Franco
Gottdiener, John S
Gross, Stefan
Gudbjartsson, Daniel F
Gutmann, Rebecca
Haggerty, Christopher M
van der Harst, Pim
Hyde, Craig L
Ingelsson, Erik
Jukema, J Wouter
Kavousi, Maryam
Khaw, Kay-Tee
Kleber, Marcus E
Kober, Lars
Koekemoer, Andrea
Langenberg, Claudia
Lind, Lars
Lindgren, Cecilia M
London, Barry
Lotta, Luca A
Lovering, Ruth C
Luan, Jian'an
Magnusson, Patrik
Mahajan, Anubha
Margulies, Kenneth B
Maerz, Winfried
Melander, Olle
Mordi, Ify R
Morgan, Thomas
Morris, Andrew D
Morris, Andrew P
Morrison, Alanna C
Nagle, Michael W
Nelson, Christopher P
Niessner, Alexander
Niiranen, Teemu
O'Donoghue, Michelle L
Owens, Anjali T
Palmer, Colin NA
Parry, Helen M
Perola, Markus
Portilla-Fernandez, Eliana
Psaty, Bruce M
Rice, Kenneth M
Ridker, Paul M
Romaine, Simon PR
Rotter, Jerome I
Salo, Perttu
Salomaa, Veikko
van Setten, Jessica
Shalaby, Alaa A
Smelser, Diane T
Smith, Nicholas L
Stender, Steen
Stott, David J
Svensson, Per
Tammesoo, Mari-Liis
Taylor, Kent D
Teder-Laving, Maris
Teumer, Alexander
Thorgeirsson, Gudmundur
Thorsteinsdottir, Unnur
Torp-Pedersen, Christian
Trompet, Stella
Tyl, Benoit
Uitterlinden, Andre G
Veluchamy, Abirami
Voelker, Uwe
Voors, Adriaan A
Wang, Xiaosong
Wareham, Nicholas J
Waterworth, Dawn
Weeke, Peter E
Weiss, Raul
Wiggins, Kerri L
Xing, Heming
Yerges-Armstrong, Laura M
Yu, Bing
Zannad, Faiez
Zhao, Jing Hua
Hemingway, Harry
Samani, Nilesh J
McMurray, John JV
Yang, Jian
Visscher, Peter M
Newton-Cheh, Christopher
Malarstig, Anders
Holm, Hilma
Lubitz, Steven A
Sattar, Naveed
Holmes, Michael V
Cappola, Thomas P
Asselbergs, Folkert W
Hingorani, Aroon D
Kuchenbaecker, Karoline
Ellinor, Patrick T
Lang, Chim C
Stefansson, Kari
Smith, J Gustav
Vasan, Ramachandran S
Swerdlow, Daniel I
Lumbers, R Thomas
Abecasis, Goncalo
Backman, Joshua
Bai, Xiaodong
Balasubramanian, Suganthi
Banerjee, Nilanjana
Baras, Aris
Barnard, Leland
Beechert, Christina
Blumenfeld, Andrew
Cantor, Michael
Chai, Yating
Coppola, Giovanni
Damask, Amy
Dewey, Frederick
Economides, Aris
Eom, Gisu
Forsythe, Caitlin
Fuller, Erin D
Gu, Zhenhua
Gurski, Lauren
Guzzardo, Paloma M
Habegger, Lukas
Hahn, Young
Hawes, Alicia
van Hout, Cristopher
Jones, Marcus B
Khalid, Shareef
Lattari, Michael
Li, Alexander
Lin, Nan
Liu, Daren
Lopez, Alexander
Manoochehri, Kia
Marchini, Jonathan
Marcketta, Anthony
Maxwell, Evan K
McCarthy, Shane
Mitnaul, Lyndon J
O'Dushlaine, Colm
Overton, John D
Padilla, Maria Sotiropoulos
Paulding, Charles
Penn, John
Pradhan, Manasi
Reid, Jeffrey G
Schleicher, Thomas D
Schurmann, Claudia
Shuldiner, Alan
Staples, Jeffrey C
Sun, Dylan
Toledo, Karina
Ulloa, Ricardo H
Widom, Louis
Wolf, Sarah E
Yadav, Ashish
Ye, Bin
Ctr, Regeneron Genetics
Shah, Sonia [0000-0001-5860-4526]
Henry, Albert [0000-0001-7422-2288]
Roselli, Carolina [0000-0001-5267-6756]
Lin, Honghuang [0000-0003-3043-3942]
Chaffin, Mark D. [0000-0002-1234-5562]
Helgadottir, Anna [0000-0002-1806-2467]
Verweij, Niek [0000-0002-4303-7685]
Almgren, Peter [0000-0002-0473-0241]
Chen, Xu [0000-0002-7299-3238]
Ghanbari, Mohsen [0000-0002-9476-7143]
Giedraitis, Vilmantas [0000-0003-3423-2021]
Gross, Stefan [0000-0003-4121-7161]
Guðbjartsson, Daníel F. [0000-0002-5222-9857]
Hyde, Craig L. [0000-0002-6939-287X]
Ingelsson, Erik [0000-0003-2256-6972]
Jukema, J. Wouter [0000-0002-3246-8359]
Kleber, Marcus E. [0000-0003-0663-7275]
Koekemoer, Andrea [0000-0001-8222-3547]
Langenberg, Claudia [0000-0002-5017-7344]
Lindgren, Cecilia M. [0000-0002-4903-9374]
Lovering, Ruth C. [0000-0002-9791-0064]
Luan, Jian’an [0000-0003-3137-6337]
Magnusson, Patrik [0000-0002-7315-7899]
Mahajan, Anubha [0000-0001-5585-3420]
Mordi, Ify R. [0000-0002-2686-729X]
Morris, Andrew D. [0000-0002-1766-0473]
Nagle, Michael W. [0000-0002-4677-7582]
Nelson, Christopher P. [0000-0001-8025-2897]
Palmer, Colin N. A. [0000-0002-6415-6560]
Rice, Kenneth M. [0000-0002-3071-7278]
Rotter, Jerome I. [0000-0001-7191-1723]
Salomaa, Veikko [0000-0001-7563-5324]
van Setten, Jessica [0000-0002-4934-7510]
Svensson, Per [0000-0003-0372-6272]
Taylor, Kent D. [0000-0002-2756-4370]
Teder-Laving, Maris [0000-0002-5872-1850]
Teumer, Alexander [0000-0002-8309-094X]
Tyl, Benoit [0000-0001-5297-8412]
Uitterlinden, Andre G. [0000-0002-7276-3387]
Völker, Uwe [0000-0002-5689-3448]
Wiggins, Kerri L. [0000-0003-2749-1279]
Hemingway, Harry [0000-0003-2279-0624]
Yang, Jian [0000-0003-2001-2474]
Visscher, Peter M. [0000-0002-2143-8760]
Lubitz, Steven A. [0000-0002-9599-4866]
Sattar, Naveed [0000-0002-1604-2593]
Cappola, Thomas P. [0000-0002-9630-7204]
Asselbergs, Folkert W. [0000-0002-1692-8669]
Kuchenbaecker, Karoline [0000-0001-9726-603X]
Ellinor, Patrick T. [0000-0002-2067-0533]
Vasan, Ramachandran S. [0000-0001-7357-5970]
Lumbers, R. Thomas [0000-0002-9077-4741]
Apollo - University of Cambridge Repository
Chaffin, Mark D [0000-0002-1234-5562]
Guðbjartsson, Daníel F [0000-0002-5222-9857]
Hyde, Craig L [0000-0002-6939-287X]
Jukema, J Wouter [0000-0002-3246-8359]
Kleber, Marcus E [0000-0003-0663-7275]
Lindgren, Cecilia M [0000-0002-4903-9374]
Lovering, Ruth C [0000-0002-9791-0064]
Luan, Jian'an [0000-0003-3137-6337]
Mordi, Ify R [0000-0002-2686-729X]
Morris, Andrew D [0000-0002-1766-0473]
Nagle, Michael W [0000-0002-4677-7582]
Nelson, Christopher P [0000-0001-8025-2897]
Palmer, Colin NA [0000-0002-6415-6560]
Rice, Kenneth M [0000-0002-3071-7278]
Rotter, Jerome I [0000-0001-7191-1723]
Taylor, Kent D [0000-0002-2756-4370]
Uitterlinden, Andre G [0000-0002-7276-3387]
Wiggins, Kerri L [0000-0003-2749-1279]
Visscher, Peter M [0000-0002-2143-8760]
Lubitz, Steven A [0000-0002-9599-4866]
Cappola, Thomas P [0000-0002-9630-7204]
Asselbergs, Folkert W [0000-0002-1692-8669]
Ellinor, Patrick T [0000-0002-2067-0533]
Vasan, Ramachandran S [0000-0001-7357-5970]
Lumbers, R Thomas [0000-0002-9077-4741]
Palmer, Colin N A [0000-0002-6415-6560]
Cardiovascular Centre (CVC)
University of Queensland [Brisbane]
University College of London [London] (UCL)
Broad Institute of MIT and Harvard (BROAD INSTITUTE)
Harvard Medical School [Boston] (HMS)-Massachusetts Institute of Technology (MIT)-Massachusetts General Hospital [Boston]
University Medical Center Groningen [Groningen] (UMCG)
Boston University School of Medicine (BUSM)
Boston University [Boston] (BU)
Framingham Heart Study
National Heart, Lung, and Blood Institute [Bethesda] (NHLBI)-Boston University [Boston] (BU)
deCODE genetics [Reykjavik]
Karolinska Institutet [Stockholm]
Pfizer
University of Pennsylvania [Philadelphia]
University of Groningen [Groningen]
Imperial College London
Lund University [Lund]
Herlev and Gentofte Hospital
Massachusetts General Hospital [Boston]
Department of Neurobiology, Care Sciences and Society [Stockholm, Sweden] (Division of Family Medicine)
Dalarna University
Regeneron Genetics Center, 777 Old Saw Mill River Road, Tarrytown
Department of Biostatistics
University of Washington [Seattle]
Emory University School of Medicine
Emory University [Atlanta, GA]
The University of Texas Medical School at Houston
Department of Molecular and Functional Genomics, Geisinger, Danville, PA
Brigham and Women's Hospital [Boston]
Harvard Medical School [Boston] (HMS)
Regeneron Genetics Center, 777 Old Saw Mill River Road, Tarrytown, NY
Novartis Institutes for BioMedical Research (NIBR)
University of Liverpool
Universität Heidelberg [Heidelberg]
Medizinische Fakultät Mannheim
The Alan Turing Institute
Ninewells Hospital and Medical School [Dundee]
Universität Greifswald - University of Greifswald
German Center for Cardiovascular Research (DZHK)
Berlin Institute of Health (BIH)
University of Minnesota System
Regeneron Pharmaceuticals [Tarrytown]
Department of Clinical Sciences, Cardiovascular Epidemiology
Skane University Hospital [Lund]
Institute of Genomics [Tartu, Estonia]
University of Tartu
Robertson Centre for Biostatistics, University of Glasgow
Department of Epidemiology, Erasmus University Medical Center, Rotterdam
Erasmus University Medical Center [Rotterdam] (Erasmus MC)
Uppsala University
Brigham & Women’s Hospital [Boston] (BWH)
University of Maryland School of Medicine
University of Maryland System
School of Science and Engineering (Reykjavik University)
Carver College of Medicine, University of Iowa
Geisinger Health System [Danville, PA, USA]
Durrer Center for Cardiogenetic Research, ICIN-Netherlands Heart Institute, Utrecht
Stanford School of Medicine [Stanford]
Stanford Medicine
Stanford University-Stanford University
Stanford Cardiovascular Institute
Uppsala Universitet [Uppsala]
Leiden University Medical Center (LUMC)
Einthoven Laboratory for Experimental Vascular Medicine (ELEVM - LEIDEN)
Department of Public Health and Primary Care
University of Cambridge [UK] (CAM)
Rigshospitalet [Copenhagen]
Copenhagen University Hospital
Glenfield Hospital
University Hospitals Leicester
MRC Epidemiology Unit
University of Cambridge [UK] (CAM)-Institute of Metabolic Science
Big Data Institute
University of Oxford [Oxford]
University of Iowa [Iowa City]
The Wellcome Trust Centre for Human Genetics [Oxford]
Synlab Academy, Synlab Holding Deutschland GmbH, Mannheim
Medical University Graz
Skane University Hospital [Malmo]
Vanderbilt University School of Medicine [Nashville]
University of Edinburgh
Université médicale de Vienne, Autriche
National Institute for Health and Welfare [Helsinki]
University of Turku
Birmingham Women's and Children's NHS Foundation Trust
Kaiser Permanente
Harbor UCLA Medical Center [Torrance, Ca.]
Los Angeles Biomedical Research Institute (LA BioMed)
University Medical Center [Utrecht]
University of Pittsburgh (PITT)
Pennsylvania Commonwealth System of Higher Education (PCSHE)
Seattle Epidemiologic Research and Information Center [Seattle]
Institute of Cardiovascular and Medical Sciences [Glasgow]
University of Glasgow
Department of Cardiology, Södersjukhuset, Stockholm
Estonian Genome and Medicine
Landspitali National University Hospital of Iceland
University of Iceland [Reykjavik]
Aalborg University [Denmark] (AAU)
Institut de Recherches SERVIER (IRS)
Interfaculty Institute for Genetics and Functional Genomics
Ernst-Moritz-Arndt-Universität Greifswald
GlaxoSmithKline
Glaxo Smith Kline
Northeastern Ohio Medical University (NEOMED)
Centre d'investigation clinique plurithématique Pierre Drouin [Nancy] (CIC-P)
Centre d'investigation clinique [Nancy] (CIC)
Université de Lorraine (UL)-Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lorraine (UL)-Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy)-Institut National de la Santé et de la Recherche Médicale (INSERM)
Défaillance Cardiovasculaire Aiguë et Chronique (DCAC)
Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lorraine (UL)
Cardiovascular and Renal Clinical Trialists [Vandoeuvre-les-Nancy] (INI-CRCT)
Institut Lorrain du Coeur et des Vaisseaux Louis Mathieu [Nancy]
French-Clinical Research Infrastructure Network - F-CRIN [Paris] (Cardiovascular & Renal Clinical Trialists - CRCT )
MRC Epidemiology Unit, Institute of Metabolic Science
Addenbrooke's Hospital
British Heart Foundation Glasgow Cardiovascular Research Centre (BHF GCRC)
University of Glasgow-NHS Greater Glasgow and Clyde
Department of Cardiovascular Sciences [Leicester]
University of Leicester
Queensland Brain Institute
Cardiovascular Research Center, Massachusetts General Hospital, Boston, MA
Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA
University of Dundee
National Heart and Lung Institute [London] (NHLI)
Imperial College London-Royal Brompton and Harefield NHS Foundation Trust
Atherosclerosis Risk in Communities Study (ARIC)The Atherosclerosis Risk in Communities Study is carried out as a collaborative study supported by National Heart, Lung, and Blood Institute contracts N01-HC-55015, N01-HC- 55016, N01-HC-55018, N01-HC-55019, N01-HC-55020, N01-HC55021, N01-HC-55022, R01HL087641, R01HL59367, R01HL086694 and RC2 HL102419
National Human Genome Research Institute contract U01HG004402
and National Institutes of Health contract HHSN268200625226C. The authors thank the staff and participants of the ARIC study for their important contributions. Infrastructure was partly supported by Grant Number UL1RR025005, a component of the National Institutes of Health and NIH Roadmap for Medical Research. A systems BIOlogy Study to TAilored Treatment in Chronic Heart Failure (BIOSTAT- CHF)This project was funded by a grant from the European Commission (FP7‐242209‐ BIOSTAT‐CHF
EudraCT 2010–020808–29). Cardiovascular Health Study (CHS) This CHS research was supported by NHLBI contracts HHSN268201200036C, HHSN268200800007C, HHSN268201800001C, HHSN268200960009C, N01HC55222, N01HC85079, N01HC85080, N01HC85081, N01HC85082, N01HC85083, N01HC85086
and NHLBI grants U01HL080295, R01HL087652, R01HL105756, R01HL103612, R01HL120393, and U01HL130114 with additional contribution from the National Institute of Neurological Disorders and Stroke (NINDS). Additional support was provided through R01AG023629 from the National Institute on Aging (NIA). A full list of principal CHS investigators and institutions can be found at CHS-NHLBI.org. The provision of genotyping data was supported in part by the National Center for Advancing Translational Sciences, CTSI grant UL1TR001881, and the National Institute of Diabetes and Digestive and Kidney Disease Diabetes Research Center (DRC) grant DK063491 to the Southern California Diabetes Endocrinology Research Center. deCODE Heart Failure Study (deCODE) We at deCODE thank the women and men of Iceland that have participated in our studies and our colleagues that contributed to data collection and processing. DiscovEHR We acknowledge and thank all participants in Geisinger’s MyCode Community Health Initiative for their support and permission to use their health and genomic information in the DiscovEHR collaboration. This work was supported by the Regeneron Genetics Center and Geisinger. Estonian Genome Center at the University of Tartu (EGCUT) This study was supported by Estonian Research Council Grant IUT20-60, EU, H2020 grant 692145, European Union through the European Regional Development Fund (Project No. 2014-2020.4.01.15-0012) GENTRANSMED. Eplerenone Post-Acute Myocardial Infarction Heart Failure Efficacy and Survival Study (EPHESUS) The EPHESUS was supported by Pfizer, Inc. The European Prospective Investigation of Cancer, Norfolk study (EPIC-Norfolk) The EPIC-Norfolk Study is supported by programme grants from the Medical Research Council UK (G1000143) and Cancer Research UK (C864/A14136) and with additional support from the European Union, Stroke Association, British Heart Foundation, Research into Ageing, Department of Health, The Wellcome Trust and the Food Standards Agency. NJW and CL also acknowledge support from the Medical Research Council, UK (MC_UU_12015/1
MC_PC_13048). We thank all EPIC participants and staff for their contribution to the study, and thank staff from the Technical, Field Epidemiology and Data Functional Group Teams of the Medical Research Council Epidemiology Unit in Cambridge, UK, for carrying out sample preparation, DNA provision and quality control, genotyping and data handling work. Framingham Heart Study (FHS) This work was conducted using data and resources from the Framingham Heart Study (FHS) of the National Heart Lung and Blood Institute and Boston University School of Medicine. The study was supported by the National Heart, Lung and Blood Institute’s Framingham Heart Study (Contract No. N01-HC-25195 and HHSN268201500001I) and its contract with Affymetrix, Inc for genotyping services (Contract No.N02-HL-6-4278). The work was also supported by R01 HL093328, R01 HL105993, and R01 HL71039 (PI: Ramachandran). FINRISK V.S. has been supported by the Finnish Foundation for Cardiovascular Research. Genetics of Diabetes Audit and Research Tayside Scotland GoDARTS) The Wellcome Trust United Kingdom Type 2 Diabetes Case Control Collection (supporting GoDARTS) was funded by the Wellcome Trust (072960/Z/03/Z, 084726/Z/08/Z, 084727/Z/08/Z, 085475/Z/08/Z, 085475/B/08/Z) and as part of the EU IMI-SUMMIT programme. We acknowledge the support of the Health Informatics Centre, University of Dundee, for managing and supplying the anonymized data and NHS Tayside, the original data owner. The Genetic Risk Assessment of Defibrillator Events (GRADE) NIH-NHLBI R01 HL77398 (Genetic Modulators of Sudden Death). S.L. is supported by NIH grant 1R01HL139731 and American Heart Association 18SFRN34250007. The LUdwigshafen RIsk and Cardiovascular Health (LURIC) study We extend our appreciation to the participants of the LURIC study
without their collaboration, this article would not have been written. We thank the LURIC study team who were either temporarily or permanently involved in patient recruitment as well as sample and data handling, in addition to the laboratory staff at the Ludwigshafen General Hospital and the Universities of Freiburg and Ulm, Germany. LURIC has received funding from the 7th Framework Program (RiskyCAD, grant agreement number 305739 and Atheroremo, grant agreement number 201668) of the European Union. Malmö Diet and Cancer Study (MDCS) J. Gustav Smith was supported by grants from the Swedish Heart-Lung Foundation (2016- 0134 and 2016-0315), the Swedish Research Council (2017-02554), the European Research Council (ERC-STG-2015-679242), the Crafoord Foundation, Skåne University Hospital, the Scania county, governmental funding of clinical research within the Swedish National Health Service, a generous donation from the Knut and Alice Wallenberg foundation to the Wallenberg Center for Molecular Medicine in Lund, and funding from the Swedish Research Council (Linnaeus grant Dnr 349-2006-237, Strategic Research Area Exodiab Dnr 2009-1039) and Swedish Foundation for Strategic Research (Dnr IRC15- 0067) to the Lund University Diabetes Center. The Malmo Diet and Cancer Study was made possible by grants from the Swedish Cancer Society, the Swedish Medical Research Council, the Swedish Dairy Association, and the Malmo city council. Penn Heart Failure Study (PHFS) The study was supported by NIH grants (NIH R01L088577 and NIH R01H105993). Prevention of REnal and Vascular ENd-stage Disease (PREVEND) The Prevention of Renal and Vascular Endstage Disease Study (PREVEND) genetics is supported by the Dutch Kidney Foundation (Grant E033), the EU project grant GENECURE (FP-6 LSHM CT 2006 037697), the National Institutes of Health (grant LM010098), the Netherlands organisation for health research and development (NWO VENI grant 916.761.70), and the Dutch Inter University Cardiology Institute Netherlands (ICIN). Niek Verweij was supported by NWO VENI grant 016.186.125. PROspective Study of Pravastatin in the Elderly at Risk for vascular disease (PROSPER)The PROSPER study was supported by an investigator-initiated grant obtained from Bristol- Myers Squibb. Support for genotyping was provided by the seventh framework program of the European commission (grant 223004) and by the Netherlands Genomics Initiative (Netherlands Consortium for Healthy Aging grant 050-060-810). J.W.J. is an Established Clinical Investigator of the Netherlands Heart Foundation (grant 2001 D 032). Study of Health in Pomerania (SHIP) SHIP is part of the Community Medicine Research net of the University of Greifswald, Germany, which is funded by the Federal Ministry of Education and Research (grants no. 01ZZ9603, 01ZZ0103, and 01ZZ0403), the Ministry of Cultural Affairs as well as the Social Ministry of the Federal State of Mecklenburg-West Pomerania, and the network ‘Greifswald Approach to Individualized Medicine (GANI_MED)’ funded by the Federal Ministry of Education and Research (grant 03IS2061A). Genome-wide data have been supported by the Federal Ministry of Education and Research (grant no. 03ZIK012) and a joint grant from Siemens Healthineers, Erlangen, Germany and the Federal State of Mecklenburg- West Pomerania. The University of Greifswald is a member of the Caché Campus program of the InterSystems GmbH. Stabilization of Plaque using Darapladib-Thrombolysis in Myocardial Infarction 52 (SOLID)SOLID-TIMI 52 was funded by GlaxoSmithKline. TwinGene (TwinGene) TwinGene received funding from the Swedish Research Council (M-2005-1112), GenomEUtwin (EU/QLRT-2001-01254
QLG2-CT-2002-01254), NIH DK U01-066134, The Swedish Foundation for Strategic Research (SSF) and the Heart and Lung foundation no. 20070481. TwinGene is part of the Swedish Twin Registry which is managed by Karolinska Institutet and receives funding through the Swedish Research Council (2017–00641). UK Biobank (UKBiobank) This research has been conducted using the UK Biobank Resource under Application Number 15422. This work was supported in part by grants to R.T.L. from the EU/EFPIA Innovative Medicines Initiative 2 Joint Undertaking BigData@Heart grant no. 116074, MRC Proximity to Discovery Award Scheme, the American Heart Association Institute for Precision Mecidine, Pfizer Ltd, the University College London British Heart Foundation Research Accelerator (AA/18/6/34223), and was supported by the National Institute for Health Research University College London Hospitals Biomedical Research Centre. A. H. is supported by the British Heart Foundation Cardiovascular Biomedicine PhD studentship. R.T.L is supported by a UK Research and Innovation Rutherford Fellowship and was previously supported by a National Institutes of Health Research Clinical Lectureship. Uppsala Longitudinal Study of Adult Men (ULSAM) J.Ä. is supported by the Swedish Research Council and the Swedish Heart Lung foundation. C.M.L is supported by the Li Ka Shing Foundation, WT-SSI/John Fell funds and by the NIHR Biomedical Research Centre, Oxford, by Widenlife and NIH (5P50HD028138- 27). Women’s Genome Health Study (WGHS) The WGHS is supported by the National Heart, Lung, and Blood Institute (HL043851 and HL080467, HL099355) and the National Cancer Institute (CA047988 and UM1CA182913), with collaborative scientific support and funding for genotyping provided by Amgen.
Epidemiology
Internal Medicine
Læknadeild (HÍ)
Faculty of Medicine (UI)
Verkfræði- og náttúruvísindasvið (HÍ)
School of Engineering and Natural Sciences (UI)
Heilbrigðisvísindasvið (HÍ)
School of Health Sciences (UI)
Háskóli Íslands
University of Iceland
Source :
Nature Communications, 11(1). NATURE PUBLISHING GROUP, Nature Communications, Nature Communications, 11(1):163. Nature Publishing Group, Nature Communications, Vol 11, Iss 1, Pp 1-12 (2020), Shah, S, Henry, A, Roselli, C, Lin, H, Sveinbjörnsson, G, Fatemifar, G, Hedman, Å K, Wilk, J B, Morley, M P, Chaffin, M D, Helgadottir, A, Verweij, N, Dehghan, A, Almgren, P, Andersson, C, Aragam, K G, Ärnlöv, J, Backman, J D, Biggs, M L, Bloom, H L, Brandimarto, J, Brown, M R, Buckbinder, L, Carey, D J, Chasman, D I, Chen, X, Chen, X, Chung, J, Chutkow, W, Cook, J P, Delgado, G E, Denaxas, S, Doney, A S, Dörr, M, Dudley, S C, Dunn, M E, Engström, G, Esko, T, Felix, S B, Finan, C, Ford, I, Ghanbari, M, Ghasemi, S, Giedraitis, V, Giulianini, F, Gottdiener, J S, Gross, S, Guðbjartsson, D F, Gutmann, R, Haggerty, C M, van der Harst, P, Hyde, C L, Ingelsson, E, Jukema, J W, Kavousi, M, Khaw, K-T, Kleber, M E, Køber, L, Koekemoer, A, Langenberg, C, Lind, L, Lindgren, C M, London, B, Lotta, L A, Lovering, R C, Luan, J, Magnusson, P, Mahajan, A, Margulies, K B, März, W, Melander, O, Mordi, I R, Morgan, T, Morris, A D, Morris, A P, Morrison, A C, Nagle, M W, Nelson, C P, Niessner, A, Niiranen, T, O’Donoghue, M L, Owens, A T, Palmer, C N A, Parry, H M, Perola, M, Portilla-Fernandez, E, Psaty, B M, Abecasis, G, Backman, J, Bai, X, Balasubramanian, S, Banerjee, N, Baras, A, Barnard, L, Beechert, C, Blumenfeld, A, Cantor, M, Chai, Y, Coppola, G, Damask, A, Dewey, F, Economides, A, Eom, G, Forsythe, C, Fuller, E D, Gu, Z, Gurski, L, Guzzardo, P M, Habegger, L, Hahn, Y, Hawes, A, van Hout, C, Jones, M B, Khalid, S, Lattari, M, Li, A, Lin, N, Liu, D, Lopez, A, Manoochehri, K, Marchini, J, Marcketta, A, Maxwell, E K, McCarthy, S, Mitnaul, L J, O’Dushlaine, C, Overton, J D, Padilla, M S, Paulding, C, Penn, J, Pradhan, M, Reid, J G, Schleicher, T D, Schurmann, C, Shuldiner, A, Staples, J C, Sun, D, Toledo, K, Ulloa, R H, Widom, L, Wolf, S E, Yadav, A, Ye, B, Rice, K M, Ridker, P M, Romaine, S P R, Rotter, J I, Salo, P, Salomaa, V, van Setten, J, Shalaby, A A, Smelser, D T, Smith, N L, Stender, S, Stott, D J, Svensson, P, Tammesoo, M-L, Taylor, K D, Teder-Laving, M, Teumer, A, Thorgeirsson, G, Thorsteinsdottir, U, Torp-Pedersen, C, Trompet, S, Tyl, B, Uitterlinden, A G, Veluchamy, A, Völker, U, Voors, A A, Wang, X, Wareham, N J, Waterworth, D, Weeke, P E, Weiss, R, Wiggins, K L, Xing, H, Yerges-Armstrong, L M, Yu, B, Zannad, F, Zhao, J H, Hemingway, H, Samani, N J, McMurray, J J V, Yang, J, Visscher, P M, Newton-Cheh, C, Malarstig, A, Holm, H, Lubitz, S A, Sattar, N, Holmes, M V, Cappola, T P, Asselbergs, F W, Hingorani, A D, Kuchenbaecker, K, Ellinor, P T, Lang, C C, Stefansson, K, Smith, J G, Vasan, R S, Swerdlow, D I & Lumbers, R T 2020, ' Genome-wide association and Mendelian randomisation analysis provide insights into the pathogenesis of heart failure ', Nature Communications, vol. 11, no. 1, 163 . https://doi.org/10.1038/s41467-019-13690-5, 2020, ' Genome-wide association and Mendelian randomisation analysis provide insights into the pathogenesis of heart failure ', Nature Communications, vol. 11, no. 1, pp. 163 . https://doi.org/10.1038/s41467-019-13690-5, Nature Communications, Nature Publishing Group, 2020, 11 (1), pp.163. ⟨10.1038/s41467-019-13690-5⟩, Shah, S, Henry, A, Roselli, C, Lin, H, Sveinbjörnsson, G, Fatemifar, G, Hedman, Å K, Wilk, J B, Morley, M P, Chaffin, M D, Helgadottir, A, Verweij, N, Dehghan, A, Almgren, P, Andersson, C, Aragam, K G, Ärnlöv, J, Backman, J D, Biggs, M L, Bloom, H L, Brandimarto, J, Brown, M R, Buckbinder, L, Carey, D J, Chasman, D I, Chen, X, Chen, X, Chung, J, Chutkow, W, Cook, J P, Delgado, G E, Denaxas, S, Doney, A S, Dörr, M, Dudley, S C, Dunn, M E, Engström, G, Esko, T, Felix, S B, Finan, C, Ford, I, Ghanbari, M, Ghasemi, S, Morris, A P, Morris, A D, Nelson, C P, Smith, N L, Zhao, J H, Yang, J & Holmes, M V 2020, ' Genome-wide association and Mendelian randomisation analysis provide insights into the pathogenesis of heart failure ', Nature Communications, vol. 11, no. 1, pp. 163 . https://doi.org/10.1038/s41467-019-13690-5, Shah, S, Henry, A, Roselli, C, Lin, H, Sveinbjörnsson, G, Fatemifar, G, Hedman, Å K, Wilk, J B, Morley, M P, Chaffin, M D, Helgadottir, A, Verweij, N, Dehghan, A, Almgren, P, Andersson, C, Aragam, K G, Ärnlöv, J, Backman, J D, Biggs, M L, Bloom, H L, Brandimarto, J, Brown, M R, Buckbinder, L, Carey, D J, Chasman, D I, Chen, X, Chen, X, Chung, J, Chutkow, W, Cook, J P, Delgado, G E, Denaxas, S, Doney, A S, Dörr, M, Dudley, S C, Dunn, M E, Engström, G, Esko, T, Felix, S B, Finan, C, Ford, I, Ghanbari, M, Ghasemi, S, Giedraitis, V, Giulianini, F, Køber, L, Regeneron Genetics Center, Stender, S, Torp-Pedersen, C, Weeke, P E, Vasan, R S, Swerdlow, D I & Lumbers, R T 2020, ' Genome-wide association and Mendelian randomisation analysis provide insights into the pathogenesis of heart failure ', Nature Communications, vol. 11, 163 . https://doi.org/10.1038/s41467-019-13690-5
Publication Year :
2020
Publisher :
Springer Nature, 2020.

Abstract

Publisher's version (útgefin grein)<br />Heart failure (HF) is a leading cause of morbidity and mortality worldwide. A small proportion of HF cases are attributable to monogenic cardiomyopathies and existing genome-wide association studies (GWAS) have yielded only limited insights, leaving the observed heritability of HF largely unexplained. We report results from a GWAS meta-analysis of HF comprising 47,309 cases and 930,014 controls. Twelve independent variants at 11 genomic loci are associated with HF, all of which demonstrate one or more associations with coronary artery disease (CAD), atrial fibrillation, or reduced left ventricular function, suggesting shared genetic aetiology. Functional analysis of non-CAD-associated loci implicate genes involved in cardiac development (MYOZ1, SYNPO2L), protein homoeostasis (BAG3), and cellular senescence (CDKN1A). Mendelian randomisation analysis supports causal roles for several HF risk factors, and demonstrates CAD-independent effects for atrial fibrillation, body mass index, and hypertension. These findings extend our knowledge of the pathways underlying HF and may inform new therapeutic strategies.<br />We acknowledge the contribution from the EchoGen Consortium.

Details

Language :
English
ISSN :
20411723
Database :
OpenAIRE
Journal :
Nature Communications, 11(1). NATURE PUBLISHING GROUP, Nature Communications, Nature Communications, 11(1):163. Nature Publishing Group, Nature Communications, Vol 11, Iss 1, Pp 1-12 (2020), Shah, S, Henry, A, Roselli, C, Lin, H, Sveinbjörnsson, G, Fatemifar, G, Hedman, Å K, Wilk, J B, Morley, M P, Chaffin, M D, Helgadottir, A, Verweij, N, Dehghan, A, Almgren, P, Andersson, C, Aragam, K G, Ärnlöv, J, Backman, J D, Biggs, M L, Bloom, H L, Brandimarto, J, Brown, M R, Buckbinder, L, Carey, D J, Chasman, D I, Chen, X, Chen, X, Chung, J, Chutkow, W, Cook, J P, Delgado, G E, Denaxas, S, Doney, A S, Dörr, M, Dudley, S C, Dunn, M E, Engström, G, Esko, T, Felix, S B, Finan, C, Ford, I, Ghanbari, M, Ghasemi, S, Giedraitis, V, Giulianini, F, Gottdiener, J S, Gross, S, Guðbjartsson, D F, Gutmann, R, Haggerty, C M, van der Harst, P, Hyde, C L, Ingelsson, E, Jukema, J W, Kavousi, M, Khaw, K-T, Kleber, M E, Køber, L, Koekemoer, A, Langenberg, C, Lind, L, Lindgren, C M, London, B, Lotta, L A, Lovering, R C, Luan, J, Magnusson, P, Mahajan, A, Margulies, K B, März, W, Melander, O, Mordi, I R, Morgan, T, Morris, A D, Morris, A P, Morrison, A C, Nagle, M W, Nelson, C P, Niessner, A, Niiranen, T, O’Donoghue, M L, Owens, A T, Palmer, C N A, Parry, H M, Perola, M, Portilla-Fernandez, E, Psaty, B M, Abecasis, G, Backman, J, Bai, X, Balasubramanian, S, Banerjee, N, Baras, A, Barnard, L, Beechert, C, Blumenfeld, A, Cantor, M, Chai, Y, Coppola, G, Damask, A, Dewey, F, Economides, A, Eom, G, Forsythe, C, Fuller, E D, Gu, Z, Gurski, L, Guzzardo, P M, Habegger, L, Hahn, Y, Hawes, A, van Hout, C, Jones, M B, Khalid, S, Lattari, M, Li, A, Lin, N, Liu, D, Lopez, A, Manoochehri, K, Marchini, J, Marcketta, A, Maxwell, E K, McCarthy, S, Mitnaul, L J, O’Dushlaine, C, Overton, J D, Padilla, M S, Paulding, C, Penn, J, Pradhan, M, Reid, J G, Schleicher, T D, Schurmann, C, Shuldiner, A, Staples, J C, Sun, D, Toledo, K, Ulloa, R H, Widom, L, Wolf, S E, Yadav, A, Ye, B, Rice, K M, Ridker, P M, Romaine, S P R, Rotter, J I, Salo, P, Salomaa, V, van Setten, J, Shalaby, A A, Smelser, D T, Smith, N L, Stender, S, Stott, D J, Svensson, P, Tammesoo, M-L, Taylor, K D, Teder-Laving, M, Teumer, A, Thorgeirsson, G, Thorsteinsdottir, U, Torp-Pedersen, C, Trompet, S, Tyl, B, Uitterlinden, A G, Veluchamy, A, Völker, U, Voors, A A, Wang, X, Wareham, N J, Waterworth, D, Weeke, P E, Weiss, R, Wiggins, K L, Xing, H, Yerges-Armstrong, L M, Yu, B, Zannad, F, Zhao, J H, Hemingway, H, Samani, N J, McMurray, J J V, Yang, J, Visscher, P M, Newton-Cheh, C, Malarstig, A, Holm, H, Lubitz, S A, Sattar, N, Holmes, M V, Cappola, T P, Asselbergs, F W, Hingorani, A D, Kuchenbaecker, K, Ellinor, P T, Lang, C C, Stefansson, K, Smith, J G, Vasan, R S, Swerdlow, D I & Lumbers, R T 2020, ' Genome-wide association and Mendelian randomisation analysis provide insights into the pathogenesis of heart failure ', Nature Communications, vol. 11, no. 1, 163 . https://doi.org/10.1038/s41467-019-13690-5, 2020, ' Genome-wide association and Mendelian randomisation analysis provide insights into the pathogenesis of heart failure ', Nature Communications, vol. 11, no. 1, pp. 163 . https://doi.org/10.1038/s41467-019-13690-5, Nature Communications, Nature Publishing Group, 2020, 11 (1), pp.163. ⟨10.1038/s41467-019-13690-5⟩, Shah, S, Henry, A, Roselli, C, Lin, H, Sveinbjörnsson, G, Fatemifar, G, Hedman, Å K, Wilk, J B, Morley, M P, Chaffin, M D, Helgadottir, A, Verweij, N, Dehghan, A, Almgren, P, Andersson, C, Aragam, K G, Ärnlöv, J, Backman, J D, Biggs, M L, Bloom, H L, Brandimarto, J, Brown, M R, Buckbinder, L, Carey, D J, Chasman, D I, Chen, X, Chen, X, Chung, J, Chutkow, W, Cook, J P, Delgado, G E, Denaxas, S, Doney, A S, Dörr, M, Dudley, S C, Dunn, M E, Engström, G, Esko, T, Felix, S B, Finan, C, Ford, I, Ghanbari, M, Ghasemi, S, Morris, A P, Morris, A D, Nelson, C P, Smith, N L, Zhao, J H, Yang, J & Holmes, M V 2020, ' Genome-wide association and Mendelian randomisation analysis provide insights into the pathogenesis of heart failure ', Nature Communications, vol. 11, no. 1, pp. 163 . https://doi.org/10.1038/s41467-019-13690-5, Shah, S, Henry, A, Roselli, C, Lin, H, Sveinbjörnsson, G, Fatemifar, G, Hedman, Å K, Wilk, J B, Morley, M P, Chaffin, M D, Helgadottir, A, Verweij, N, Dehghan, A, Almgren, P, Andersson, C, Aragam, K G, Ärnlöv, J, Backman, J D, Biggs, M L, Bloom, H L, Brandimarto, J, Brown, M R, Buckbinder, L, Carey, D J, Chasman, D I, Chen, X, Chen, X, Chung, J, Chutkow, W, Cook, J P, Delgado, G E, Denaxas, S, Doney, A S, Dörr, M, Dudley, S C, Dunn, M E, Engström, G, Esko, T, Felix, S B, Finan, C, Ford, I, Ghanbari, M, Ghasemi, S, Giedraitis, V, Giulianini, F, Køber, L, Regeneron Genetics Center, Stender, S, Torp-Pedersen, C, Weeke, P E, Vasan, R S, Swerdlow, D I & Lumbers, R T 2020, ' Genome-wide association and Mendelian randomisation analysis provide insights into the pathogenesis of heart failure ', Nature Communications, vol. 11, 163 . https://doi.org/10.1038/s41467-019-13690-5
Accession number :
edsair.doi.dedup.....a894b6e7f703eee196676f48718af1b7
Full Text :
https://doi.org/10.1038/s41467-019-13690-5