SynthesisNature genetics2022
Discovery and systematic characterization of risk variants and genes for coronary artery disease in over a million participants.
Open access · hybridAbstract readMeta-Analysis
In one paragraph
Synthesis in Nature genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 478 papers, 10 of them syntheses that pooled it.
0numbers the graph read from it
0cells of the map it votes in
478citing papers in PubMed, 10 pooled it
110.1field-weighted citation impact, top 1% of its field
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.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
478 citing papers in PubMed, 10 syntheses or guidelines pooled it, 648 citations in OpenAlex.
- Assessing the causal effects of environmental tobacco smoke exposure: a meta-analytic Mendelian randomization study.Nicotine & tobacco research : official journal of the Society for Research on Nicotine and Tobacco · 2026Pooled it
- Pooled it
- Artificial Intelligence for Cardiovascular Risk Prediction: An Umbrella Review of Applications and Translational Challenges.Vascular health and risk management · 2026Pooled it
- Genetic susceptibility to uric acid and selected cardiovascular outcomes: a systematic review and meta-analysis of Mendelian randomization studies.Frontiers in endocrinology · 2026Pooled it
- A multi-omics approach uncovers causality of IL6R on endotypes of subclinical carotid atherosclerosis and the possible role of the IL6R/OSMR pathway.Cardiovascular research · 2025Pooled it
- Skeletal muscle eQTL meta-analysis implicates genes in the genetic architecture of muscular and cardiometabolic traits.American journal of human genetics · 2025Pooled it
- Genome-wide analysis of heart failure yields insights into disease heterogeneity and enables prognostic prediction in the Japanese population.Nature communications · 2025Pooled it
- A systematic review of GWAS on CMR imaging traits: genetic insights into cardiovascular structure, function, and diseases.EBioMedicine · 2025Pooled it
- Ancestry- and Age-Dependent Effects of NOS3 Polymorphisms on Coronary Heart Disease Risk: A Meta-analysis.Cardiovascular toxicology · 2025Pooled it
- Cardiovascular diseases and depression: A meta-analysis and Mendelian randomization analysis.Molecular psychiatry · 2025Pooled it
- Evaluating the impact of communicating high polygenic risk for coronary artery disease on the health behaviour of young overweight adults: a pragmatic randomised controlled trial.Scientific reports · 2026Trial
- Comparing bulk and single-cell methodologies and models to profile gene expression, chromatin accessibility and regulatory links in endothelial cells treated with TNFα.Biochemistry and biophysics reports · 2026Article
- Refining Genetic Instruments for Dietary Intake Mendelian Randomization Using Phenome-Wide Association Studies.Genetic epidemiology · 2026Article
- Multidomain risk profiles and documented polyvascular involvement across atherosclerotic vascular beds.American journal of preventive cardiology · 2026Article
- Proteomic Pathways Linking Type 2 Diabetes Genetic Clusters to Cardiovascular Diseases: A Network Mendelian Randomisation Study.Diabetes, obesity & metabolism · 2026Article
- Polygenic Risk Scores Show Distinct Genetic Architectures of IBD-Associated Comorbidities.Digestive diseases and sciences · 2026Article
- Polygenic risk score for early identification of coronary artery disease in a real-world clinical setting within the Latvian patient population.American heart journal plus : cardiology research and practice · 2026Article
- Association Between Ticagrelor and Glucose Homeostasis Regulation: Insights from Genetic and Transcriptomic Analyses.Biochemical genetics · 2026Article
- Genetic and clinical risk factors for recurrent events among patients with coronary artery disease.American journal of preventive cardiology · 2026Article
- Multimodal profiling of atherosclerosis: Protocol and pilot data for the AtherOMICS biobank.Science advances · 2026Article
418 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
98 authors at 20 institutions in 13 countries.
Krishna G Aragam *Cardiovascular Research Center, Massachusetts General Hospital, Boston, MA, USA. karagam@broadinstitute.org.ORCID http://orcid.org/0000-0003-3223-9131
Tao Jiang *BHF Cardiovascular Epidemiology Unit, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
Anuj Goel *Radcliffe Department of Medicine, Division of Cardiovascular Medicine, University of Oxford, Oxford, UK.ORCID http://orcid.org/0000-0003-2307-4021
Stavroula Kanoni *William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, UK.ORCID http://orcid.org/0000-0002-1691-9615
Brooke N Wolford *Department of Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, MI, USA.ORCID http://orcid.org/0000-0003-3153-1552
Deepak S Atri *Cardiovascular Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID http://orcid.org/0000-0001-8139-5419
Elle M WeeksProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID http://orcid.org/0000-0002-4317-4444
Minxian WangCardiovascular Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID http://orcid.org/0000-0002-3753-508X
George HindyDepartment of Population Medicine, Qatar University College of Medicine, Doha, Qatar.
Wei ZhouProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID http://orcid.org/0000-0001-7719-0859
Christopher GraceRadcliffe Department of Medicine, Division of Cardiovascular Medicine, University of Oxford, Oxford, UK.
Carolina RoselliCardiovascular Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID http://orcid.org/0000-0001-5267-6756
Nicholas A MarstonTIMI Study Group, Division of Cardiovascular Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.
Frederick K KamanuTIMI Study Group, Division of Cardiovascular Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.ORCID http://orcid.org/0000-0001-7208-1047
Ida SurakkaDepartment of Internal Medicine, Division of Cardiology, University of Michigan, Ann Arbor, MI, USA.
Loreto Muñoz VenegasInstitute for Cardiogenetics, University of Lübeck, Lübeck, Germany.
Paul SherlikerMedical Research Council Population Health Research Unit, CTSU-Nuffield Department of Population Health, Medical Sciences Division, University of Oxford, Oxford, UK.
Satoshi KoyamaLaboratory for Cardiovascular Genomics and Informatics, RIKEN Center for Integrative Medical Sciences, Tsurumi-ku, Yokohama, Japan.ORCID http://orcid.org/0000-0002-9286-0360
Kazuyoshi IshigakiLaboratory for Statistical and Translational Genetics, RIKEN Center for Integrative Medical Sciences, Tsurumi-ku, Yokohama, Japan.ORCID http://orcid.org/0000-0003-2881-0657
Bjørn O ÅsvoldDepartment of Public Health and Nursing, K.G. Jebsen Center for Genetic Epidemiology, Norwegian University of Science and Technology, NTNU, Trondheim, Norway.ORCID http://orcid.org/0000-0003-3837-2101
Michael R BrownHuman Genetics Center, Department of Epidemiology, Human Genetics, and Environmental Sciences, School of Public Health, The University of Texas Health Science Center at Houston, Houston, TX, USA.
Ben BrumptonDepartment of Public Health and Nursing, K.G. Jebsen Center for Genetic Epidemiology, Norwegian University of Science and Technology, NTNU, Trondheim, Norway.ORCID http://orcid.org/0000-0002-3058-1059
Paul S de VriesHuman Genetics Center, Department of Epidemiology, Human Genetics, and Environmental Sciences, School of Public Health, The University of Texas Health Science Center at Houston, Houston, TX, USA.
Olga GiannakopoulouWilliam Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, UK.
Panagiota GiardoglouDepartment of Nutrition-Dietetics, School of Health Science and Education, Harokopio University, Athens, Greece.
Daniel F GudbjartssondeCODE Genetics/Amgen, Inc., Reykjavik, Iceland.ORCID http://orcid.org/0000-0002-5222-9857
Ulrich GüldenerGerman Heart Centre Munich, Department of Cardiology, Technical University of Munich, Munich, Germany.ORCID http://orcid.org/0000-0001-5052-8610
Syed M Ijlal HaiderInstitute for Cardiogenetics, University of Lübeck, Lübeck, Germany.
Anna HelgadottirdeCODE Genetics/Amgen, Inc., Reykjavik, Iceland.ORCID http://orcid.org/0000-0002-1806-2467
Maysson IbrahimCTSU-Nuffield Department of Population Health, Medical Sciences Division, University of Oxford, Oxford, UK.
Adnan KastratiGerman Heart Centre Munich, Department of Cardiology, Technical University of Munich, Munich, Germany.
Thorsten KesslerGerman Heart Centre Munich, Department of Cardiology, Technical University of Munich, Munich, Germany.ORCID http://orcid.org/0000-0003-3326-1621
Theodosios KyriakouWellcome Centre for Human Genetics, University of Oxford, Oxford, UK.
Tomasz KonopkaWilliam Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, UK.
Ling LiGerman Heart Centre Munich, Department of Cardiology, Technical University of Munich, Munich, Germany.ORCID http://orcid.org/0000-0002-3280-9475
Lijiang MaDepartment of Genetics and Genomic Science, Icahn Institute for Genomics and Multiscale Biology, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Thomas MeitingerGerman Research Center for Cardiovascular Research (DZHK e.V.), Partner Site Munich Heart Alliance, Munich, Germany.
Sören MuchaInstitute for Cardiogenetics, University of Lübeck, Lübeck, Germany.ORCID http://orcid.org/0000-0002-1647-2526
Matthias MunzInstitute for Cardiogenetics, University of Lübeck, Lübeck, Germany.ORCID http://orcid.org/0000-0002-4728-3357
Federico MurgiaCTSU-Nuffield Department of Population Health, Medical Sciences Division, University of Oxford, Oxford, UK.ORCID http://orcid.org/0000-0002-3608-845X
Jonas B NielsenDepartment of Internal Medicine, Division of Cardiology, University of Michigan, Ann Arbor, MI, USA.
Markus M NöthenSchool of Medicine and University Hospital Bonn, Institute of Human Genetics, University of Bonn, Bonn, Germany.
Shichao PangGerman Heart Centre Munich, Department of Cardiology, Technical University of Munich, Munich, Germany.ORCID http://orcid.org/0000-0002-4111-2864
Tobias ReinbergerInstitute for Cardiogenetics, University of Lübeck, Lübeck, Germany.
Gavin SchnitzlerCardiovascular Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Damian SmedleyWilliam Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, UK.ORCID http://orcid.org/0000-0002-5836-9850
Gudmar ThorleifssondeCODE Genetics/Amgen, Inc., Reykjavik, Iceland.ORCID http://orcid.org/0000-0003-4623-9087
Moritz von ScheidtGerman Heart Centre Munich, Department of Cardiology, Technical University of Munich, Munich, Germany.ORCID http://orcid.org/0000-0001-7159-8271
Jacob C UlirschProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID http://orcid.org/0000-0002-7947-0827
Biobank Japan
EPIC-CVD
David O ArnardeCODE Genetics/Amgen, Inc., Reykjavik, Iceland.
Noël P BurttProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Maria C CostanzoProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID http://orcid.org/0000-0001-9043-693X
Jason FlannickDivision of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.ORCID http://orcid.org/0000-0002-3618-795X
Kaoru ItoLaboratory for Cardiovascular Genomics and Informatics, RIKEN Center for Integrative Medical Sciences, Tsurumi-ku, Yokohama, Japan.ORCID http://orcid.org/0000-0003-1843-773X
Dong-Keun JangProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Yoichiro KamataniDepartment of Computational Biology and Medical Sciences, Graduate School of Frontier Sciences, The University of Tokyo, Tokyo, Japan.
Amit V KheraCenter for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.ORCID http://orcid.org/0000-0001-6535-5839
Issei KomuroDepartment of Cardiovascular Medicine, The University of Tokyo, Tokyo, Japan.ORCID http://orcid.org/0000-0002-0714-7182
Iftikhar J KulloDepartment of Cardiovascular Medicine, Mayo Clinic, Rochester, MN, USA.ORCID http://orcid.org/0000-0002-6524-3471
Luca A LottaRegeneron Genetics Center, Regeneron Pharmaceuticals, Tarrytown, NY, USA.
Christopher P NelsonDepartment of Cardiovascular Sciences and NIHR Leicester Biomedical Research Centre, University of Leicester, Glenfield Hospital, Leicester, UK.
Robert RobertsCardiovascular Genomics and Genetics, University of Arizona College of Medicin, Phoenix, AZ, USA.ORCID http://orcid.org/0000-0002-6792-4633
Gudmundur ThorgeirssondeCODE Genetics/Amgen, Inc., Reykjavik, Iceland.
Unnur ThorsteinsdottirdeCODE Genetics/Amgen, Inc., Reykjavik, Iceland.
Thomas R WebbDepartment of Cardiovascular Sciences and NIHR Leicester Biomedical Research Centre, University of Leicester, Glenfield Hospital, Leicester, UK.ORCID http://orcid.org/0000-0001-5998-8226
Aris BarasRegeneron Genetics Center, Regeneron Pharmaceuticals, Tarrytown, NY, USA.ORCID http://orcid.org/0000-0002-6830-3396
Johan L M BjörkegrenDepartment of Genetics and Genomic Sciences, Institute of Genomics and Multiscale Biology, Icahn School of Medicine at Mount Sinai, New York, NY, USA.ORCID http://orcid.org/0000-0003-1945-7425
Eric BoerwinkleHuman Genetics Center, Department of Epidemiology, Human Genetics, and Environmental Sciences, School of Public Health, The University of Texas Health Science Center at Houston, Houston, TX, USA.
George DedoussisDepartment of Nutrition-Dietetics, School of Health Science and Education, Harokopio University, Athens, Greece.
Hilma HolmdeCODE Genetics/Amgen, Inc., Reykjavik, Iceland.ORCID http://orcid.org/0000-0002-9517-6636
Kristian HveemDepartment of Public Health and Nursing, K.G. Jebsen Center for Genetic Epidemiology, Norwegian University of Science and Technology, NTNU, Trondheim, Norway.
Olle MelanderDepartment of Clinical Sciences in Malmö, Lund University, Malmö, Sweden.
Alanna C MorrisonHuman Genetics Center, Department of Epidemiology, Human Genetics, and Environmental Sciences, School of Public Health, The University of Texas Health Science Center at Houston, Houston, TX, USA.ORCID http://orcid.org/0000-0001-6381-4296
Marju Orho-MelanderDepartment of Clinical Sciences in Malmö, Lund University, Malmö, Sweden.ORCID http://orcid.org/0000-0002-3578-2503
Loukianos S RallidisSecond Department of Cardiology, Medical School, National and Kapodistrian University of Athens, University General Hospital Attikon, Athens, Greece.
Arno RuusaleppDepartment of Cardiac Surgery, Tartu University Hospital and Institute of Clinical Medicine, Tartu University, Tartu, Estonia.
Marc S SabatineTIMI Study Group, Division of Cardiovascular Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.
Kari StefanssondeCODE Genetics/Amgen, Inc., Reykjavik, Iceland.ORCID http://orcid.org/0000-0003-1676-864X
Pierre ZallouaHarvard T.H.Chan School of Public Health, Boston, MA, USA.
Patrick T EllinorCardiovascular Research Center, Massachusetts General Hospital, Boston, MA, USA.
Martin FarrallRadcliffe Department of Medicine, Division of Cardiovascular Medicine, University of Oxford, Oxford, UK.ORCID http://orcid.org/0000-0003-4564-2165
John DaneshBHF Cardiovascular Epidemiology Unit, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
Christian T RuffTIMI Study Group, Division of Cardiovascular Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.
Hilary K FinucaneProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID http://orcid.org/0000-0003-3864-9828
Jemma C HopewellCTSU-Nuffield Department of Population Health, Medical Sciences Division, University of Oxford, Oxford, UK.
Robert ClarkeCTSU-Nuffield Department of Population Health, Medical Sciences Division, University of Oxford, Oxford, UK.ORCID http://orcid.org/0000-0002-9802-8241
Rajat M GuptaCardiovascular Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Jeanette ErdmannInstitute for Cardiogenetics, University of Lübeck, Lübeck, Germany.ORCID http://orcid.org/0000-0002-4486-6231
Nilesh J SamaniFaculty of Medicine, University of Iceland, Reykjavik, Iceland.ORCID http://orcid.org/0000-0002-3286-8133
Heribert SchunkertGerman Heart Centre Munich, Department of Cardiology, Technical University of Munich, Munich, Germany.ORCID http://orcid.org/0000-0001-6428-3001
Hugh WatkinsRadcliffe Department of Medicine, Division of Cardiovascular Medicine, University of Oxford, Oxford, UK.ORCID http://orcid.org/0000-0002-5287-9016
Cristen J WillerDepartment of Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, MI, USA.ORCID http://orcid.org/0000-0001-5645-4966
Panos DeloukasWilliam Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, UK.
Sekar KathiresanVerve Therapeutics, Cambridge, MA, USA.ORCID http://orcid.org/0000-0002-3711-7101
Adam S ButterworthBHF Cardiovascular Epidemiology Unit, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK. asb38@medschl.cam.ac.uk.ORCID http://orcid.org/0000-0002-6915-9015
CARDIoGRAMplusC4D Consortium
Broad Institute · USdeCODE Genetics (Iceland) · ISGerman Centre for Cardiovascular Research · DEBrigham and Women's Hospital · USCentre for Human Genetics · GBNorwegian University of Science and Technology · NOQueen Mary University of London · GBUniversity of Michigan · USDeutsches Herzzentrum München · DERIKEN Center for Integrative Medical Sciences · JPThe University of Texas Health Science Center at Houston · USUniversity of Cambridge · GBUniversity of Oxford · GBLund University · SERegeneron (United States) · USUniversity of Leicester · GBCardiovascular Institute of the South · USHarokopio University of Athens · GRKarolinska University Hospital · SENational and Kapodistrian University of Athens · GR
Funding
Institute for Clinical and Translational Research (UL1)UL1RR025005 · NCRR · JOHNS HOPKINS UNIVERSITY · PI FORD, DANIEL ERNEST · 2007 to 2011
$75.8MGenome-Wide Association Analysis in Essential Hypertension (FEHGAS study)R01HL086694 · NHLBI · NEW YORK UNIVERSITY SCHOOL OF MEDICINE · PI ARAVINDA CHAKRAVARTI · 2007 to 2026
$21.2MTRAINING PROGRAM IN CARDIOVASCULAR RESEARCHT32HL007604 · NHLBI · BRIGHAM AND WOMEN'S HOSPITAL · PI MARK W FEINBERG · 1985 to 2026
$19.0MThe next iteration of the AMP-T2D Knowledge PortalUM1DK105554 · NIDDK · BROAD INSTITUTE, INC. · PI BOEHNKE, MICHAEL L, BURTT, NOEL P · 2020 to 2025
$18.5MUniversity of Michigan Training Program in Genomic ScienceT32HG000040 · NHGRI · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI Sebastian Zoellner · 1995 to 2026
$16.4MEpidemiology of Venous Thrombosis & Pulmonary EmbolismR01HL059367 · NHLBI · UNIVERSITY OF MINNESOTA TWIN CITIES · PI TANG, WEIHONG · 1998 to 2024
$11.8MUsing genetics to discover mechanisms of myocardial infarctionR01HL109946 · NHLBI · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI YUQING Eugene CHEN, Ida Liisa Surakka · 2011 to 2026
$8.9MInstitutional Career Development CoreKL2TR002542 · NCATS · HARVARD MEDICAL SCHOOL · PI BREDELLA, MIRIAM ANTOINETTE, RUTKOVE, SEWARD B. · 2018 to 2022
$8.7MUsing Genetics to Inform Mechanism of Cardiovascular DiseaseR35HL135824 · NHLBI · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI WILLER, CRISTEN J · 2017 to 2022
$5.4MWhole-genome sequencing analysis of coronary atherosclerosis and related traitsR01HL146860 · NHLBI · UNIVERSITY OF TEXAS HLTH SCI CTR HOUSTON · PI DE VRIES, PAUL STEFAN · 2020 to 2024
$3.9MGenome-Wide Association for Loci Influencing CHD and Other Heart, Lung and BloodR01HL087641 · NHLBI · UNIVERSITY OF TEXAS HLTH SCI CTR HOUSTON · PI BOERWINKLE, ERIC A. · 2006 to 2008
$3.7MThe Association to Function Knowledge Portal: a genomic data resource for translating GWAS associations to biological effectsU24HG011453 · NHGRI · BROAD INSTITUTE, INC. · PI BURTT, NOEL P, FLANNICK, JASON · 2021 to 2025
$3.4MBritish Heart Foundation FS/14/55/30806British Heart Foundation FS/14/66/3129British Heart Foundation RE/13/1/30181British Heart Foundation RG/13/13/30194British Heart Foundation RG/14/5/30893British Heart Foundation RG/18/13/33946British Heart Foundation SP/09/002British Heart Foundation SP/13/2/30111British Heart Foundation SP/16/4/32697British Heart Foundation SP/19/2/34462Department of HealthDepartment of Health BRC-1215-20014Medical Research Council G0800270Medical Research Council MC_PC_17228Medical Research Council MC_QA137853Medical Research Council MR/L003120/1Medical Research Council MR/S502443/1NCATS NIH HHS KL2 TR002542NCRR NIH HHS UL1 RR025005NHGRI NIH HHS K08 HG010155NHGRI NIH HHS T32 HG000040NHGRI NIH HHS U01 HG004402NHGRI NIH HHS U24 HG011453NHLBI NIH HHS HHSN268201700001CNHLBI NIH HHS HHSN268201700001INHLBI NIH HHS HHSN268201700002CNHLBI NIH HHS HHSN268201700002INHLBI NIH HHS HHSN268201700003CNHLBI NIH HHS HHSN268201700003INHLBI NIH HHS HHSN268201700004CNHLBI NIH HHS HHSN268201700004INHLBI NIH HHS HHSN268201700005CNHLBI NIH HHS HHSN268201700005INHLBI NIH HHS K08 HL153937NHLBI NIH HHS K08 HL153950NHLBI NIH HHS R01 HL059367NHLBI NIH HHS R01 HL086694NHLBI NIH HHS R01 HL087641NHLBI NIH HHS R01 HL109946NHLBI NIH HHS R01 HL125863NHLBI NIH HHS R01 HL146860NHLBI NIH HHS R35 HL135824NHLBI NIH HHS T32 HL007604NIDDK NIH HHS UM1 DK105554Wellcome TrustWellcome Trust 203141/Z/16/Z
Abstract
The discovery of genetic loci associated with complex diseases has outpaced the elucidation of mechanisms of disease pathogenesis. Here we conducted a genome-wide association study (GWAS) for coronary artery disease (CAD) comprising 181,522 cases among 1,165,690 participants of predominantly European ancestry. We detected 241 associations, including 30 new loci. Cross-ancestry meta-analysis with a Japanese GWAS yielded 38 additional new loci. We prioritized likely causal variants using functionally informed fine-mapping, yielding 42 associations with less than five variants in the 95% credible set. Similarity-based clustering suggested roles for early developmental processes, cell cycle signaling and vascular cell migration and proliferation in the pathogenesis of CAD. We prioritized 220 candidate causal genes, combining eight complementary approaches, including 123 supported by three or more approaches. Using CRISPR-Cas9, we experimentally validated the effect of an enhancer in MYO9B, which appears to mediate CAD risk by regulating vascular cell motility. Our analysis identifies and systematically characterizes >250 risk loci for CAD to inform experimental interrogation of putative causal mechanisms for CAD.
Indexed as
Coronary Artery DiseaseGenome-Wide Association StudyHumans
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.