Evidence map›Paper›PMID 28416818›Full record

SynthesisNature genetics2017

Large-scale analyses of common and rare variants identify 12 new loci associated with atrial fibrillation.

Ingrid E Christophersen, Michiel Rienstra, Carolina Roselli, Xiaoyan Yin, Bastiaan Geelhoed, John Barnard, Honghuang Lin, Dan E Arking, Albert V Smith, Christine M Albert and 155 more

Erratum issued Registry-linked trialOpen access · bronzeAbstract readMeta-Analysis
In one paragraph

Synthesis in Nature genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. It is linked to trial NCT04331535 (Pragmatic Randomized Trial of Polygenic Risk Scoring for Common Diseases in Primary Care), which is not on this map. Cited by 211 papers, 17 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
211citing papers in PubMed, 17 pooled it
29.6field-weighted citation impact, top 1% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

NCT04331535 naunknown statusnot on this mapstarted 2020, after this paper: background citation

Pragmatic Randomized Trial of Polygenic Risk Scoring for Common Diseases in Primary Care

TypeinterventionalSponsorBoston VA Research Institute, Inc.Ran2020 to 2025Enrolled1,076ConditionsCoronary Artery Disease, Atrial Fibrillation, Type 2 Diabetes, Colorectal CancerArmsPolygenic risk score (PRS)
3 · Its place in the literature

Who cites it

211 citing papers in PubMed, 17 syntheses or guidelines pooled it, 351 citations in OpenAlex.

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151 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

165 authors at 20 institutions in 16 countries.

Ingrid E ChristophersenProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.ORCID http://orcid.org/0000-0002-6141-4712
Michiel RienstraDepartment of Cardiology, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands.
Carolina RoselliProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.
Xiaoyan YinNHLBI and Boston University's Framingham Heart Study, Framingham, Massachusetts, USA.
Bastiaan GeelhoedDepartment of Cardiology, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands.
John BarnardDepartments of Cardiovascular Medicine, Cellular and Molecular Medicine, Molecular Cardiology, and Quantitative Health Sciences, Cleveland Clinic, Cleveland, Ohio, USA.ORCID http://orcid.org/0000-0003-2403-8268
Honghuang LinNHLBI and Boston University's Framingham Heart Study, Framingham, Massachusetts, USA.ORCID http://orcid.org/0000-0003-3043-3942
Dan E ArkingMcKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
Albert V SmithIcelandic Heart Association, Kopavogur, Iceland.ORCID http://orcid.org/0000-0003-1942-5845
Christine M AlbertDivision of Preventive Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts, USA.
Mark ChaffinProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.
Nathan R TuckerProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.ORCID http://orcid.org/0000-0002-5071-4218
Molong LiCardiovascular Research Center, Massachusetts General Hospital, Boston, Massachusetts, USA.
Derek KlarinProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.
Nathan A BihlmeyerPredoctoral Training Program in Human Genetics, McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.ORCID http://orcid.org/0000-0002-4415-7419
Siew-Kee LowLaboratory for Statistical Analysis, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan.
Peter E WeekeDepartment of Medicine, Vanderbilt University Medical Center, Nashville, Tennessee, USA.
Martina Müller-NurasyidInstitute of Genetic Epidemiology, Helmholtz Zentrum München-German Research Center for Environmental Health, Neuherberg, Germany.
J Gustav SmithProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.
Jennifer A BrodyCardiovascular Health Research Unit, Department of Medicine, University of Washington, Seattle, Washington, USA.ORCID http://orcid.org/0000-0001-8509-148X
Maartje N NiemeijerDepartment of Epidemiology, Erasmus University Medical Center Rotterdam, Rotterdam, the Netherlands.
Marcus DörrDepartment of Internal Medicine B, University Medicine Greifswald, Greifswald, Germany.
Stella TrompetDepartment of Cardiology, Leiden University Medical Center, Leiden, the Netherlands.
Jennifer HuffmanMRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK.ORCID http://orcid.org/0000-0002-9672-2491
Stefan GustafssonDepartment of Medical Sciences, Molecular Epidemiology and Science for Life Laboratory, Uppsala University, Uppsala, Sweden.ORCID http://orcid.org/0000-0001-5894-0351
Claudia SchurmannCharles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
Marcus E KleberVth Department of Medicine, Medical Faculty Mannheim, Heidelberg University, Heidelberg, Germany.ORCID http://orcid.org/0000-0003-0663-7275
Leo-Pekka LyytikäinenDepartment of Clinical Chemistry, Fimlab Laboratories and University of Tampere School of Medicine, Tampere, Finland.ORCID http://orcid.org/0000-0002-7200-5455
Ilkka SeppäläDepartment of Clinical Chemistry, Fimlab Laboratories and University of Tampere School of Medicine, Tampere, Finland.ORCID http://orcid.org/0000-0002-5595-2573
Rainer MalikInstitute for Stroke and Dementia Research, Klinikum der Universität München, Ludwig-Maximilians-Universität, Munich, Germany.
Andrea R V R HorimotoLaboratory of Genetics and Molecular Cardiology, Heart Institute, University of São Paulo, São Paulo, Brazil.
Marco PerezDepartment of Cardiovascular Medicine, Stanford University, Stanford, California, USA.
Juha SinisaloHeart and Lung Center HUS, Helsinki University Central Hospital, Helsinki, Finland.
Stefanie AeschbacherDepartment of Medicine, University Hospital Basel, Basel, Switzerland.
Sébastien ThériaultPopulation Health Research Institute, Hamilton, Ontario, Canada.
Jie YaoInstitute for Translational Genomics and Population Sciences, Department of Pediatrics, LABioMed at Harbor-UCLA Medical Center, Torrance, California, USA.
Farid RadmaneshProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.
Stefan WeissDZHK (German Centre for Cardiovascular Research), partner site Greifswald, Greifswald, Germany.ORCID http://orcid.org/0000-0002-3553-4315
Alexander TeumerDZHK (German Centre for Cardiovascular Research), partner site Greifswald, Greifswald, Germany.ORCID http://orcid.org/0000-0002-8309-094X
Seung Hoan ChoiProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.
Lu-Chen WengProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.
Sebastian ClaussCardiovascular Research Center, Massachusetts General Hospital, Boston, Massachusetts, USA.
Rajat DeoDivision of Cardiovascular Medicine, Department of Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA.
Daniel J RaderDivision of Cardiovascular Medicine, Department of Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA.
Svati H ShahDivision of Cardiology, Department of Medicine, Duke University School of Medicine, Durham, North Carolina, USA.
Albert SunDivision of Cardiology, Department of Medicine, Duke University School of Medicine, Durham, North Carolina, USA.
Jemma C HopewellCTSU-Nuffield Department of Population Health, University of Oxford, Oxford, UK.
Stephanie DebetteINSERM U1219 (Bordeaux Population Health Centre), Bordeaux, France.
Ganesh ChauhanINSERM U1219 (Bordeaux Population Health Centre), Bordeaux, France.
Qiong YangDepartment of Biostatistics, Boston University School of Public Health, Boston, Massachusetts, USA.ORCID http://orcid.org/0000-0002-3658-1375
Bradford B WorrallDepartments of Neurology and Public Health Science, University of Virginia Health System, Charlottesville, Virginia, USA.
Guillaume ParéPopulation Health Research Institute, Hamilton, Ontario, Canada.
Yoichiro KamataniLaboratory for Statistical Analysis, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan.
Yanick P HagemeijerDepartment of Cardiology, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands.ORCID http://orcid.org/0000-0001-6036-3741
Niek VerweijDepartment of Cardiology, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands.
Joylene E SilandDepartment of Cardiology, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands.
Michiaki KuboRIKEN Center for Integrative Medical Sciences, Yokohama, Japan.
Jonathan D SmithDepartments of Cardiovascular Medicine, Cellular and Molecular Medicine, Molecular Cardiology, and Quantitative Health Sciences, Cleveland Clinic, Cleveland, Ohio, USA.ORCID http://orcid.org/0000-0002-0415-386X
David R Van WagonerDepartments of Cardiovascular Medicine, Cellular and Molecular Medicine, Molecular Cardiology, and Quantitative Health Sciences, Cleveland Clinic, Cleveland, Ohio, USA.ORCID http://orcid.org/0000-0001-8250-9828
Joshua C BisCardiovascular Health Research Unit, Department of Medicine, University of Washington, Seattle, Washington, USA.
Siegfried PerzInstitute of Epidemiology II, Helmholtz Zentrum München-German Research Center for Environmental Health, Neuherberg, Germany.
Bruce M PsatyCardiovascular Health Research Unit, Department of Medicine, University of Washington, Seattle, Washington, USA.
Paul M RidkerDivision of Preventive Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts, USA.
Jared W MagnaniNHLBI and Boston University's Framingham Heart Study, Framingham, Massachusetts, USA.
Tamara B HarrisLaboratory of Epidemiology, Demography, and Biometry, National Institute on Aging, Bethesda, Maryland, USA.
Lenore J LaunerLaboratory of Epidemiology, Demography, and Biometry, National Institute on Aging, Bethesda, Maryland, USA.
M Benjamin ShoemakerDepartment of Medicine, Vanderbilt University Medical Center, Nashville, Tennessee, USA.
Sandosh PadmanabhanInstitute of Cardiovascular and Medical Sciences, BHF Glasgow Cardiovascular Research Centre, University of Glasgow, Glasgow, UK.
Jeffrey HaesslerFred Hutchinson Cancer Research Center, University of Washington, Seattle, Washington, USA.
Traci M BartzCardiovascular Health Research Unit, Department of Medicine, University of Washington, Seattle, Washington, USA.
Melanie WaldenbergerDZHK (German Centre for Cardiovascular Research), partner site Munich Heart Alliance, Munich, Germany.
Peter LichtnerInstitute of Human Genetics, Helmholtz Zentrum München-German Research Center for Environmental Health, Neuherberg, Germany.
Marina ArendtInstitute of Medical Informatics, Biometry and Epidemiology, University Hospital Essen, Essen, Germany.
Jose E KriegerLaboratory of Genetics and Molecular Cardiology, Heart Institute, University of São Paulo, São Paulo, Brazil.ORCID http://orcid.org/0000-0001-5464-1792
Mika KähönenDepartment of Clinical Physiology, Tampere University Hospital and University of Tampere School of Medicine, Tampere, Finland.
Lorenz RischUniversity Institute of Clinical Chemistry, University of Bern, Bern, Switzerland.
Alfredo J MansurHeart Institute, University of São Paulo, São Paulo, Brazil.
Annette PetersDZHK (German Centre for Cardiovascular Research), partner site Munich Heart Alliance, Munich, Germany.
Blair H SmithDivision of Population Health Sciences, University of Dundee, Dundee, UK.ORCID http://orcid.org/0000-0002-5362-9430
Lars LindDepartment of Medical Sciences, Cardiovascular Epidemiology, Uppsala University, Uppsala, Sweden.
Stuart A ScottDepartment of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA.ORCID http://orcid.org/0000-0001-5720-1864
Yingchang LuCharles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
Erwin B BottingerCharles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
Jussi HernesniemiDepartment of Clinical Chemistry, Fimlab Laboratories and University of Tampere School of Medicine, Tampere, Finland.
Cecilia M LindgrenWellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.
Jorge A WongDivision of Cardiology, Hamilton Health Sciences, McMaster University, Hamilton, Ontario, Canada.
Jie HuangBoston VA Research Institute, Inc., Boston, Massachusetts, USA.
Markku EskolaDepartment of Cardiology, Heart Hospital, Tampere University Hospital and University of Tampere School of Medicine, Tampere, Finland.
Andrew P MorrisWellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.
Ian FordRobertson Center for Biostatistics, University of Glasgow, Glasgow, UK.
Alex P ReinerDepartment of Epidemiology, University of Washington, Seattle, Washington, USA.
Graciela DelgadoVth Department of Medicine, Medical Faculty Mannheim, Heidelberg University, Heidelberg, Germany.
Lin Y ChenCardiovascular Division, Department of Medicine, University of Minnesota Medical School, Minneapolis, Minnesota, USA.
Yii-Der Ida ChenInstitute for Translational Genomics and Population Sciences, Department of Pediatrics, LABioMed at Harbor-UCLA Medical Center, Torrance, California, USA.
Roopinder K SandhuDivision of Cardiology, University of Alberta, Edmonton, Alberta, Canada.
Man LiDepartment of Epidemiology, Johns Hopkins University, Baltimore, Maryland, USA.ORCID http://orcid.org/0000-0002-3839-0281
Eric BoerwinkleHuman Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.
Lewin EiseleInstitute of Medical Informatics, Biometry and Epidemiology, University Hospital Essen, Essen, Germany.
Lars LannfeltDepartment of Public Health and Caring Sciences, Geriatrics, Uppsala University, Uppsala, Sweden.
Natalia RostProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.
Christopher D AndersonProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.
Kent D TaylorInstitute for Translational Genomics and Population Sciences, Department of Pediatrics, LABioMed at Harbor-UCLA Medical Center, Torrance, California, USA.
Archie CampbellGeneration Scotland, Centre for Genomic and Experimental Medicine, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK.ORCID http://orcid.org/0000-0003-0198-5078
Patrik K MagnussonDepartment of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
David PorteousGeneration Scotland, Centre for Genomic and Experimental Medicine, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK.
Lynne J HockingMusculoskeletal Research Programme, Division of Applied Medicine, University of Aberdeen, Aberdeen, UK.
Efthymia VlachopoulouTransplantation Laboratory, Medicum, University of Helsinki, Helsinki, Finland.
Nancy L PedersenDepartment of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
Kjell NikusDepartment of Cardiology, Heart Hospital, Tampere University Hospital and University of Tampere School of Medicine, Tampere, Finland.
Marju Orho-MelanderDepartment of Clinical Sciences, Lund University, Malmö, Sweden.
Anders HamstenCardiovascular Genetics and Genomics Group, Atherosclerosis Research Unit, Department of Medicine Solna, Karolinska Institutet, Stockholm, Sweden.
Jan HeeringaDepartment of Epidemiology, Erasmus University Medical Center Rotterdam, Rotterdam, the Netherlands.
Joshua C DennyDepartment of Medicine, Vanderbilt University Medical Center, Nashville, Tennessee, USA.
Jennifer KriebelInstitute of Epidemiology II, Helmholtz Zentrum München-German Research Center for Environmental Health, Neuherberg, Germany.ORCID http://orcid.org/0000-0003-4270-018X
Dawood DarbarDepartment of Medicine and Pharmacology, University of Illinois, Chicago, Illinois, USA.
Christopher Newton-ChehProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.
Christian ShafferDepartment of Medicine, Vanderbilt University Medical Center, Nashville, Tennessee, USA.
Peter W MacfarlaneInstitute of Health and Wellbeing, College of Medical, Veterinary and Life Sciences, University of Glasgow, Glasgow, UK.
Stefanie Heilmann-HeimbachInstitute of Human Genetics, University of Bonn, Bonn, Germany.
Peter AlmgrenDepartment of Clinical Sciences, Lund University, Malmö, Sweden.
Paul L HuangCardiovascular Research Center, Massachusetts General Hospital, Boston, Massachusetts, USA.
Nona SotoodehniaCardiovascular Health Research Unit, University of Washington, Seattle, Washington, USA.
Elsayed Z SolimanEpidemiological Cardiology Research Center (EPICARE), Wake Forest School of Medicine, Winston-Salem, North Carolina, USA.ORCID http://orcid.org/0000-0001-5632-8150
Andre G UitterlindenDepartment of Epidemiology and Internal Medicine, Erasmus University Medical Center Rotterdam, Rotterdam, the Netherlands.
Albert HofmanDepartment of Epidemiology, Erasmus University Medical Center Rotterdam, Rotterdam, the Netherlands.
Oscar H FrancoDepartment of Epidemiology, Erasmus University Medical Center Rotterdam, Rotterdam, the Netherlands.
Uwe VölkerDZHK (German Centre for Cardiovascular Research), partner site Greifswald, Greifswald, Germany.
Karl-Heinz JöckelInstitute of Medical Informatics, Biometry and Epidemiology, University Hospital Essen, Essen, Germany.
Moritz F SinnerDepartment of Medicine I, University Hospital Munich, Ludwig Maximilians University, Munich, Germany.
Henry J LinInstitute for Translational Genomics and Population Sciences, Department of Pediatrics, LABioMed at Harbor-UCLA Medical Center, Torrance, California, USA.
Xiuqing GuoInstitute for Translational Genomics and Population Sciences, Department of Pediatrics, LABioMed at Harbor-UCLA Medical Center, Torrance, California, USA.
METASTROKE Consortium of the ISGC
Neurology Working Group of the CHARGE Consortium
Martin DichgansInstitute for Stroke and Dementia Research, Klinikum der Universität München, Ludwig-Maximilians-Universität, Munich, Germany.
Erik IngelssonDepartment of Medical Sciences, Molecular Epidemiology and Science for Life Laboratory, Uppsala University, Uppsala, Sweden.
Charles KooperbergFred Hutchinson Cancer Research Center, University of Washington, Seattle, Washington, USA.
Olle MelanderDepartment of Internal Medicine, Clinical Sciences, Lund University, Malmö, Sweden.
Ruth J F LoosCharles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
Jari LaurikkaDepartment of Cardio-Thoracic Surgery, Heart Hospital, Tampere University Hospital and University of Tampere School of Medicine, Tampere, Finland.
David ConenDepartment of Medicine, University Hospital Basel, Basel, Switzerland.
Jonathan RosandProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.
Pim van der HarstDepartment of Cardiology, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands.
Marja-Liisa LokkiTransplantation Laboratory, Medicum, University of Helsinki, Helsinki, Finland.
Sekar KathiresanProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.
Alexandre PereiraLaboratory of Genetics and Molecular Biology, Heart Institute, University of São Paulo, São Paulo, Brazil.
J Wouter JukemaDepartment of Cardiology, Leiden University Medical Center, Leiden, the Netherlands.ORCID http://orcid.org/0000-0002-3246-8359
Caroline HaywardMRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK.
Jerome I RotterInstitute for Translational Genomics and Population Sciences, Department of Pediatrics, LABioMed at Harbor-UCLA Medical Center, Torrance, California, USA.
Winfried MärzClinical Institute of Medical and Chemical Laboratory Diagnostics, Medical University of Graz, Graz, Austria.
Terho LehtimäkiDepartment of Clinical Chemistry, Fimlab Laboratories and University of Tampere School of Medicine, Tampere, Finland.
Bruno H StrickerDepartment of Epidemiology and Internal Medicine, Erasmus University Medical Center Rotterdam, Rotterdam, the Netherlands.
Mina K ChungDepartments of Cardiovascular Medicine, Cellular and Molecular Medicine, Molecular Cardiology, and Quantitative Health Sciences, Cleveland Clinic, Cleveland, Ohio, USA.
Stephan B FelixDepartment of Internal Medicine B, University Medicine Greifswald, Greifswald, Germany.
Vilmundur GudnasonIcelandic Heart Association, Kopavogur, Iceland.
Alvaro AlonsoDepartment of Epidemiology, Rollins School of Public Health, Emory University, Atlanta, Georgia, USA.
Dan M RodenDepartment of Medicine, Vanderbilt University Medical Center, Nashville, Tennessee, USA.
Stefan KääbDepartment of Medicine I, University Hospital Munich, Ludwig Maximilians University, Munich, Germany.
Daniel I ChasmanProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.
Susan R HeckbertDepartment of Epidemiology, University of Washington, Seattle, Washington, USA.
Emelia J BenjaminNHLBI and Boston University's Framingham Heart Study, Framingham, Massachusetts, USA.ORCID http://orcid.org/0000-0003-4076-2336
Toshihiro TanakaLaboratory for Cardiovascular Diseases, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan.ORCID http://orcid.org/0000-0001-6201-9784
Kathryn L LunettaNHLBI and Boston University's Framingham Heart Study, Framingham, Massachusetts, USA.
Steven A LubitzProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.
Patrick T EllinorProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.ORCID http://orcid.org/0000-0002-2067-0533
AFGen Consortium
Broad Institute · USBoston University · USUniversity of Washington · USHelmholtz Zentrum München · DEUniversity Medical Center Groningen · NLErasmus MC · NLTampere University Hospital · FIUCLA Medical Center · USIcahn School of Medicine at Mount Sinai · USJohns Hopkins University · USUppsala University · SEVanderbilt University Medical Center · USCleveland Clinic · USInstitut für Medizinische Informatik, Biometrie und Epidemiologie · DEKarolinska Institutet · SELund University · SERIKEN Center for Integrative Medical Sciences · JPTampere University · FIUniversidade de São Paulo · BRUniversitätsmedizin Greifswald · DE

Funding

UCLA Clinical and Translational Science InstituteUL1TR000124 · NCATS · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI DUBINETT, STEVEN M. · 2012 to 2015
$57.0M
Transgenic & Knock-out MouseP30DK063491 · NIDDK · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI Andrea L Hevener · 2003 to 2026
$40.4M
IDENTIFICATION OF COMMON GENETIC VARIANTS FOR ATRIAL FIBRILLATION AND PR INTERVALR01HL092577 · NHLBI · MASSACHUSETTS GENERAL HOSPITAL · PI BENJAMIN, EMELIA J., ELLINOR, PATRICK THOMAS · 2009 to 2025
$20.6M
CHARGE Consortium: Omics Discovery for CVD and Aging PhenotypesR01HL105756 · NHLBI · UNIVERSITY OF WASHINGTON · PI Bruce M Psaty, NICHOLAS L SMITH · 2011 to 2026
$9.5M
CHS research resources for the cardiovascular health of older adultsU01HL130114 · NHLBI · UNIVERSITY OF WASHINGTON · PI BURKE, GREGORY L, KRONMAL, RICHARD A · 2016 to 2019
$6.6M
Functional Genomics of Atrial Fibrillation in Human AtriaR01HL111314 · NHLBI · CLEVELAND CLINIC LERNER COM-CWRU · PI BARNARD, JOHN, CHUNG, MINA KAY · 2012 to 2019
$6.1M
The Women's Health Study: Infrastructure Support for Continued Cohort Follow-upUM1CA182913 · NCI · BRIGHAM AND WOMEN'S HOSPITAL · PI BURING, JULIE E., LEE, I-MIN · 2014 to 2018
$4.0M
AFGen Consortium: Atrial Fibrillation Genomics to Functional AnalysesR01HL128914 · NHLBI · BOSTON UNIVERSITY MEDICAL CAMPUS · PI BENJAMIN, EMELIA J., ELLINOR, PATRICK THOMAS · 2015 to 2018
$3.1M
Genetics of Atrial FibrillationR01HL090620 · NHLBI · CLEVELAND CLINIC LERNER COM-CWRU · PI BARNARD, JOHN, CHUNG, MINA KAY · 2008 to 2012
$2.9M
Positional Cloning and Candidate Gene Approach to Familial Atrial FibrillationR01HL092217 · NHLBI · VANDERBILT UNIVERSITY · PI DARBAR, DAWOOD · 2009 to 2017
$2.9M
Deciphering the genetic mechanisms of atrial fibrillationR01HL138737 · NHLBI · UNIVERSITY OF ILLINOIS AT CHICAGO · PI DARBAR, DAWOOD · 2017 to 2020
$2.6M
Transforming Genomics with 5 PB Big Omics Data Engine Cray CS300-AC SupercomputerS10OD018522 · OD · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI KOVATCH, PATRICIA · 2014 to 2014
$1.9M
Medical Research Council MC_PC_U127561128Medical Research Council MC_QA137853NCATS NIH HHS UL1 TR000124NCI NIH HHS UM1 CA182913NHLBI NIH HHS K23 HL114724NHLBI NIH HHS K24 HL105780NHLBI NIH HHS R01 HL090620NHLBI NIH HHS R01 HL092217NHLBI NIH HHS R01 HL092577NHLBI NIH HHS R01 HL105756NHLBI NIH HHS R01 HL111314NHLBI NIH HHS R01 HL128914NHLBI NIH HHS R01 HL138737NHLBI NIH HHS U01 HL130114NIDDK NIH HHS P30 DK063491NIH HHS S10 OD018522
6 · The paper itself

Abstract

Atrial fibrillation affects more than 33 million people worldwide and increases the risk of stroke, heart failure, and death. Fourteen genetic loci have been associated with atrial fibrillation in European and Asian ancestry groups. To further define the genetic basis of atrial fibrillation, we performed large-scale, trans-ancestry meta-analyses of common and rare variant association studies. The genome-wide association studies (GWAS) included 17,931 individuals with atrial fibrillation and 115,142 referents; the exome-wide association studies (ExWAS) and rare variant association studies (RVAS) involved 22,346 cases and 132,086 referents. We identified 12 new genetic loci that exceeded genome-wide significance, implicating genes involved in cardiac electrical and structural remodeling. Our results nearly double the number of known genetic loci for atrial fibrillation, provide insights into the molecular basis of atrial fibrillation, and may facilitate the identification of new potential targets for drug discovery.

Indexed as

Genetic LociAtrial FibrillationBlack or African AmericanGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansQuantitative Trait LociWhite People

Identifiers

PMID28416818
PMCPMC5585859
OpenAlexW2607238069

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