Evidence map›Paper›PMID 33186364›Full record

ArticlePloS one2020

Genetic loci associated with prevalent and incident myocardial infarction and coronary heart disease in the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium.

Julie Hahn, Yi-Ping Fu, Michael R Brown, Joshua C Bis, Paul S de Vries, Mary F Feitosa, Lisa R Yanek, Stefan Weiss, Franco Giulianini, Albert Vernon Smith and 35 more

Open access · goldAbstract read
In one paragraph

Article in PloS one, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.

0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed
0.9field-weighted citation impact, top 22% 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.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

7 citing papers in PubMed, 7 citations in OpenAlex.

  1. Article
  2. Article
  3. Comparative single-cell analysis of the adult heart and coronary vasculature.Mammalian genome : official journal of the International Mammalian Genome Society · 2023
    Article
  4. Article
  5. Article
  6. MIKB: A manually curated and comprehensive knowledge base for myocardial infarction.Computational and structural biotechnology journal · 2021
    Article
  7. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

45 authors at 15 institutions in 5 countries.

Julie HahnHuman Genetics Center, Department of Epidemiology, Human Genetics, and Environmental Sciences, School of Public Health, The University of Texas Health Science Center at Houston, Houston, Texas, United States of America.ORCID 0000-0002-9757-1648
Yi-Ping FuOffice of Biostatistics Research, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, Maryland, United States of America.
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, Texas, United States of America.ORCID 0000-0002-5235-9037
Joshua C BisCardiovascular Health Research Unit, Department of Medicine, University of Washington, Seattle, Washington, United States of America.
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, Texas, United States of America.
Mary F FeitosaDivision of Statistical Genomics, Department of Genetics, Washington University School of Medicine, St. Louis, Missouri, United States of America.ORCID 0000-0002-0933-2410
Lisa R YanekGeneSTAR Research Program, Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America.ORCID 0000-0001-7117-1075
Stefan WeissInterfaculty Institute for Genetics and Functional Genomics, The University Medicine and Ernst-Moritz-Arndt-University Greifswald, Greifswald, Germany.ORCID 0000-0002-3553-4315
Franco GiulianiniDivision of Preventive Medicine, Brigham and Women's Hospital, Boston, Massachusetts, United States of America.
Albert Vernon SmithIcelandic Heart Association, Kovapvogur, Iceland.ORCID 0000-0003-1942-5845
Xiuqing GuoThe Institute for Translational Genomics and Population Sciences, Department of Pediatrics, The Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center, Torrance, California, United States of America.
Traci M BartzCardiovascular Health Research Unit, Department of Medicine, University of Washington, Seattle, Washington, United States of America.
Diane M BeckerGeneSTAR Research Program, Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America.
Lewis C BeckerGeneSTAR Research Program, Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America.
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, Texas, United States of America.
Jennifer A BrodyCardiovascular Health Research Unit, Department of Medicine, University of Washington, Seattle, Washington, United States of America.
Yii-Der Ida ChenThe Institute for Translational Genomics and Population Sciences, Department of Pediatrics, The Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center, Torrance, California, United States of America.
Oscar H FrancoDepartment of Internal Medicine, Erasmus University Medical Center, Rotterdam, The Netherlands.
Megan GroveHuman Genetics Center, Department of Epidemiology, Human Genetics, and Environmental Sciences, School of Public Health, The University of Texas Health Science Center at Houston, Houston, Texas, United States of America.
Tamara B HarrisLaboratory of Epidemiology and Population Sciences, Intramural Research Program, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, United States of America.
Albert HofmanDepartment of Internal Medicine, Erasmus University Medical Center, Rotterdam, The Netherlands.
Shih-Jen HwangFramingham Heart Study, National Heart, Lung, and Blood Institute, National Institutes of Health, Framingham, Massachusetts, United States of America.
Brian G KralGeneSTAR Research Program, Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America.
Lenore J LaunerDepartment of Internal Medicine, Erasmus University Medical Center, Rotterdam, The Netherlands.
Marcello R P MarkusDZHK (German Centre for Cardiovascular Research), partner site Greifswald, Greifswald, Germany.
Kenneth M RiceDepartment of Biostatistics, The University of Washington, Seattle, Washington, United States of America.ORCID 0000-0002-3071-7278
Stephen S RichDepartment of Medicine and Epidemiology, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America.
Paul M RidkerDivision of Preventive Medicine, Brigham and Women's Hospital, Boston, Massachusetts, United States of America.
Fernando RivadeneiraDepartment of Internal Medicine, Erasmus University Medical Center, Rotterdam, The Netherlands.ORCID 0000-0001-9435-9441
Jerome I RotterThe Institute for Translational Genomics and Population Sciences, Department of Pediatrics, The Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center, Torrance, California, United States of America.
Nona SotoodehniaDivision of Cardiology, Department of Medicine, University of Washington, Seattle, Washington, United States of America.
Kent D TaylorThe Institute for Translational Genomics and Population Sciences, Department of Pediatrics, The Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center, Torrance, California, United States of America.
André G UitterlindenDepartment of Internal Medicine, Erasmus University Medical Center, Rotterdam, The Netherlands.
Uwe VölkerInterfaculty Institute for Genetics and Functional Genomics, The University Medicine and Ernst-Moritz-Arndt-University Greifswald, Greifswald, Germany.
Henry VölzkeDZHK (German Centre for Cardiovascular Research), partner site Greifswald, Greifswald, Germany.
Jie YaoThe Institute for Translational Genomics and Population Sciences, Department of Pediatrics, The Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center, Torrance, California, United States of America.
Daniel I ChasmanDivision of Preventive Medicine, Brigham and Women's Hospital, Boston, Massachusetts, United States of America.
Marcus DörrDZHK (German Centre for Cardiovascular Research), partner site Greifswald, Greifswald, Germany.
Vilmundur GudnasonIcelandic Heart Association, Kovapvogur, Iceland.ORCID 0000-0001-5696-0084
Rasika A MathiasGeneSTAR Research Program, Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America.
Wendy PostDepartment of Medicine and Epidemiology, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America.
Bruce M PsatyCardiovascular Health Research Unit, Department of Medicine, University of Washington, Seattle, Washington, United States of America.
Abbas DehghanDepartment of Epidemiology, Erasmus University Medical Center, Rotterdam, The Netherlands.
Christopher J O'DonnellFramingham Heart Study, National Heart, Lung, and Blood Institute, National Institutes of Health, Framingham, Massachusetts, United States of America.
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, Texas, United States of America.
Johns Hopkins University · USErasmus MC · NLUCLA Medical Center · USUniversity of Washington · USBrigham and Women's Hospital · USThe University of Texas Health Science Center at Houston · USUniversitätsmedizin Greifswald · DENational Institutes of Health · USUniversität Greifswald · DEUniversity of Iceland · ISBaylor College of Medicine · USHarvard University · USKaiser Permanente Washington Health Research Institute · USNational Heart Lung and Blood Institute · USWashington University in St. Louis · US

Funding

UCLA Clinical Translational Science InstituteUL1TR001881 · NCATS · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI ARLEEN F. BROWN, ARASH NAEIM · 2016 to 2026
$118.1M
Institute for Clinical and Translational ResearchUL1TR001079 · NCATS · JOHNS HOPKINS UNIVERSITY · PI FORD, DANIEL ERNEST · 2013 to 2017
$60.1M
Transgenic & Knock-out MouseP30DK063491 · NIDDK · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI PETER J TONTONOZ · 2003 to 2026
$40.4M
ZINC AND CA EDTA THERAPY OF PLUMBISMM01RR000052 · NCRR · JOHNS HOPKINS UNIVERSITY · PI BELCHER, HAROLYN MILLICENT EDITH · 1985 to 2007
$37.3M
Wake Forest Clinical and Translational Science AwardUL1TR001420 · NCATS · WAKE FOREST UNIVERSITY HEALTH SCIENCES · PI ARD, JAMY D, FOLEY, KRISTIE L · 2015 to 2023
$32.3M
Women's Health Study: Continued Follow-upR01CA047988 · NCI · BRIGHAM AND WOMEN'S HOSPITAL · PI BURING, JULIE E., LEE, I-MIN · 1991 to 2014
$28.2M
Building on GWAS for NHLBI-disease: the CHARGE consortiumRC2HL102419 · NHLBI · UNIVERSITY OF TEXAS HLTH SCI CTR HOUSTON · PI BOERWINKLE, ERIC A. · 2009 to 2010
$27.6M
Clinical and Translational Science AwardUL1TR000040 · NCATS · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI GINSBERG, HENRY N · 2012 to 2015
$26.2M
Task Area A Core Study Operations.Task Area A shall encompass annual follow-up of cohort members, clinical endpoints ascertainment, study coordination activities, maintenance of the database and biosp75N92020D00001 · NHLBI · UNIVERSITY OF WASHINGTON · PI MCCLELLAND, ROBYN LEAGH · 2020 to 2025
$17.2M
Genotypic Determinants of Aspirin Response in High Risk FamiliesU01HL072518 · NHLBI · JOHNS HOPKINS UNIVERSITY · PI BECKER, LEWIS C · 2002 to 2008
$12.8M
Exceptional Survival: Trajectories to Functional Aging (CHS All Stars)R01AG023629 · NIA · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI NEWMAN, ANNE B. · 2004 to 2016
$9.5M
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
NCATS NIH HHS UL1 TR000040NCATS NIH HHS UL1 TR001079NCATS NIH HHS UL1 TR001420NCATS NIH HHS UL1 TR001881NCI NIH HHS R01 CA047988NCI NIH HHS UM1 CA182913NCRR NIH HHS M01 RR000052NHLBI NIH HHS 75N92020D00001NHLBI NIH HHS 75N92020D00002NHLBI NIH HHS 75N92020D00003NHLBI NIH HHS 75N92020D00004NHLBI NIH HHS 75N92020D00005NHLBI NIH HHS 75N92020D00006NHLBI NIH HHS 75N92020D00007NHLBI NIH HHS HHSN268200800007CNHLBI NIH HHS HHSN268201100037CNHLBI NIH HHS HHSN268201200036CNHLBI NIH HHS HHSN268201500003INHLBI NIH HHS HHSN268201700001INHLBI NIH HHS HHSN268201700002INHLBI NIH HHS HHSN268201700003INHLBI NIH HHS HHSN268201700004INHLBI NIH HHS HHSN268201700005INHLBI NIH HHS HHSN268201800001CNHLBI NIH HHS K23 HL094747NHLBI NIH HHS K23 HL105897NHLBI NIH HHS N01 HC025195NHLBI NIH HHS N01 HC055222NHLBI NIH HHS N01 HC085079NHLBI NIH HHS N01 HC085080NHLBI NIH HHS N01 HC085081NHLBI NIH HHS N01 HC085082NHLBI NIH HHS N01 HC085083NHLBI NIH HHS N01 HC085086NHLBI NIH HHS N01 HC095159NHLBI NIH HHS N01 HC095160NHLBI NIH HHS N01 HC095161NHLBI NIH HHS N01 HC095162NHLBI NIH HHS N01 HC095163NHLBI NIH HHS N01 HC095164NHLBI NIH HHS N01 HC095165NHLBI NIH HHS N01 HC095166NHLBI NIH HHS N01 HC095167NHLBI NIH HHS N01 HC095168NHLBI NIH HHS N01 HC095169NHLBI NIH HHS R01 HL043851NHLBI NIH HHS R01 HL049762NHLBI NIH HHS R01 HL059684NHLBI NIH HHS R01 HL071025NHLBI NIH HHS R01 HL080467NHLBI NIH HHS R01 HL087652NHLBI NIH HHS R01 HL089474NHLBI NIH HHS R01 HL092165NHLBI NIH HHS R01 HL103612NHLBI NIH HHS R01 HL105756NHLBI NIH HHS R01 HL112064NHLBI NIH HHS R01 HL117078NHLBI NIH HHS R01 HL120393NHLBI NIH HHS R01 HL141291NHLBI NIH HHS RC1 HL099355NHLBI NIH HHS RC1 HL099747NHLBI NIH HHS RC2 HL102419NHLBI NIH HHS U01 HL072518NHLBI NIH HHS U01 HL080295NHLBI NIH HHS U01 HL130114NIA NIH HHS N01 AG012100NIA NIH HHS R01 AG023629NIDA NIH HHS HHSN271201200022CNIDDK NIH HHS P30 DK063491NIDDK NIH HHS R01 DK089256NINDS NIH HHS R01 NS062059NINR NIH HHS R01 NR008153
6 · The paper itself

Abstract

backgroundGenome-wide association studies have identified multiple genomic loci associated with coronary artery disease, but most are common variants in non-coding regions that provide limited information on causal genes and etiology of the disease. To overcome the limited scope that common variants provide, we focused our investigation on low-frequency and rare sequence variations primarily residing in coding regions of the genome. METHODS AND

resultsUsing samples of individuals of European ancestry from ten cohorts within the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium, both cross-sectional and prospective analyses were conducted to examine associations between genetic variants and myocardial infarction (MI), coronary heart disease (CHD), and all-cause mortality following these events. For prevalent events, a total of 27,349 participants of European ancestry, including 1831 prevalent MI cases and 2518 prevalent CHD cases were used. For incident cases, a total of 55,736 participants of European ancestry were included (3,031 incident MI cases and 5,425 incident CHD cases). There were 1,860 all-cause deaths among the 3,751 MI and CHD cases from six cohorts that contributed to the analysis of all-cause mortality. Single variant and gene-based analyses were performed separately in each cohort and then meta-analyzed for each outcome. A low-frequency intronic variant (rs988583) in PLCL1 was significantly associated with prevalent MI (OR = 1.80, 95% confidence interval: 1.43, 2.27; P = 7.12 × 10-7). We conducted gene-based burden tests for genes with a cumulative minor allele count (cMAC) ≥ 5 and variants with minor allele frequency (MAF) < 5%. TMPRSS5 and LDLRAD1 were significantly associated with prevalent MI and CHD, respectively, and RC3H2 and ANGPTL4 were significantly associated with incident MI and CHD, respectively. No loci were significantly associated with all-cause mortality following a MI or CHD event.

conclusionThis study identified one known locus (ANGPTL4) and four new loci (PLCL1, RC3H2, TMPRSS5, and LDLRAD1) associated with cardiovascular disease risk that warrant further investigation.

Indexed as

Genetic LociGenome-Wide Association StudyPolymorphism, Single NucleotideAgingCoronary Artery DiseaseCross-Sectional StudiesEuropeHumansMyocardial InfarctionProspective StudiesWhite People

Identifiers

PMID33186364
PMCPMC7665790
OpenAlexW3100683548

What OpenQuestion holds

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Registered trials

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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.