ArticleHuman molecular genetics2017
Discovery of novel heart rate-associated loci using the Exome Chip.
Open access · bronzeAbstract read
In one paragraph
Article in Human molecular genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers, 3 of them syntheses that pooled it.
0numbers the graph read from it
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21citing papers in PubMed, 3 pooled it
2.7field-weighted citation impact, top 9% of its field
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Who cites it
21 citing papers in PubMed, 3 syntheses or guidelines pooled it, 39 citations in OpenAlex.
- Novel ancestry-specific primary open-angle glaucoma loci and shared biology with vascular mechanisms and cell proliferation.Cell reports. Medicine · 2024Pooled it
- Meta-analysis of up to 622,409 individuals identifies 40 novel smoking behaviour associated genetic loci.Molecular psychiatry · 2020Pooled it
- Genome-Wide Association Approach Identified Novel Genetic Predictors of Heart Rate Response to β-Blockers.Journal of the American Heart Association · 2018Pooled it
- Discovery and characterization of gene-by-environment and epistatic genetic effects in a vertebrate model.Cell genomics · 2026Article
- Genetic analysis of cold tolerance and high-altitude adaptation in Gannan indigenous Tibetan sheep through genome-wide scans.BMC genomics · 2026Article
- Genome-Wide Association Study for Resting Electrocardiogram in the Qatari Population Identifies 6 Novel Genes and Validates Novel Polygenic Risk Scores.Journal of the American Heart Association · 2025Article
- Fine mapping of candidate effector genes for heart rate.Human genetics · 2024Article
- Single-cell RNA sequencing reveals the transcriptional heterogeneity of Tbx18-positive cardiac cells during heart development.Functional & integrative genomics · 2024Article
- Genetic Determinants of Atherogenic Indexes.Genes · 2023Article
- Genome-wide analysis of oxylipins and oxylipin profiles in a pediatric population.Frontiers in nutrition · 2023Article
- Slowing Heart Rate Protects Against Pathological Cardiac Hypertrophy.Function (Oxford, England) · 2023Article
- Dissecting mechanisms of chamber-specific cardiac differentiation and its perturbation following retinoic acid exposure.Development (Cambridge, England) · 2022Article
- Pharmacological Mechanisms of Tinglizi against Chronic Heart Failure Determined by Network Pharmacology and Molecular Docking.Evidence-based complementary and alternative medicine : eCAM · 2022Article
- A Polygenic Risk Score Based on a Cardioembolic Stroke Multitrait Analysis Improves a Clinical Prediction Model for This Stroke Subtype.Frontiers in cardiovascular medicine · 2022Article
- Potential functional variants of KIAA genes are associated with breast cancer risk in a case control study.Annals of translational medicine · 2021Article
- Oligogenic Inheritance Underlying Incomplete Penetrance ofFrontiers in genetics · 2021Article
- Genetic Risk Scores for Complex Disease Traits in Youth.Circulation. Genomic and precision medicine · 2020Article
- Review
- Genetics of heart rate in heart failure patients (GenHRate).Human genomics · 2019Article
- Genome analysis and pleiotropy assessment using causal networks with loss of function mutation and metabolomics.BMC genomics · 2019Article
Corrections and comments
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Authors and funding
121 authors at 20 institutions in 13 countries.
Marten E van den BergDepartment of Medical Informatics Erasmus MC - University Medical Center Rotterdam, P.O. Box 2040, 3000CA, Rotterdam, the Netherlands.
Helen R WarrenClinical Pharmacology, William Harvey Research Institute, Queen Mary University of London, London, EC1M 6BQ, UK.
Claudia P CabreraClinical Pharmacology, William Harvey Research Institute, Queen Mary University of London, London, EC1M 6BQ, UK.
Niek VerweijUniversity Medical Center Groningen, University of Groningen, Department of Cardiology, the Netherlands.
Borbala MifsudClinical Pharmacology, William Harvey Research Institute, Queen Mary University of London, London, EC1M 6BQ, UK.
Jeffrey HaesslerDivision of Public Health Sciences, Fred Hutchinson Cancer Research Center, Seattle, WA 98109, USA.
Nathan A BihlmeyerPredoctoral Training Program in Human Genetics, McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA, 21205.
Yi-Ping FuDivision of Cardiovascular Sciences, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD, USA.
Stefan WeissInterfaculty Institute for Genetics and Functional Genomics; University Medicine and Ernst-Moritz-Arndt-University Greifswald; Greifswald, 17475, Germany.
Henry J LinThe Institute for Translational Genomics and Population Sciences, Department of Pediatrics, Los Angeles Biomedical Research Institute at Harbor-UCLA Medical Center, 1124 W. Carson Street, Torrance, CA 90502, USA.
Niels GrarupThe Novo Nordisk Foundation Center for Basic Metabolic Research, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.
Ruifang Li-GaoDepartment of Clinical Epidemiology, Leiden University Medical Center, Leiden, the Netherlands.
Giorgio PistisIstituto di Ricerca Genetica e Biomedica (IRGB), CNR, Monserrato, Italy.
Nabi ShahDivision of Molecular and Clinical Medicine, School of Medicine, University of Dundee, DD1 9SY, UK.
Jennifer A BrodyCardiovascular Health Research Unit, Department of Medicine, University of Washington, 1730 Minor Ave, Suite 1360, Seattle, WA 98101, USA.
Martina Müller-NurasyidInstitute of Genetic Epidemiology, Helmholtz Zentrum München - German Research Center for Environmental Health, Neuherberg, Germany.
Honghuang LinSection of Computational Biomedicine, Department of Medicine, Boston University School of Medicine, Boston, MA.
Hao MeiDepartment of Data Science, University of Mississippi Medical Center, Jackson, MI, USA.
Albert V SmithIcelandic Heart Association, 201 Kopavogur, Iceland.
Leo-Pekka LyytikäinenDepartment of Clinical Chemistry, Fimlab Laboratories and University of Tampere School of Medicine, Arvo, D339, P.O. Box 100, FI-33014 Tampere, Finland.
Leanne M HallDepartment of Cardiovascular Sciences, University of Leicester, Cardiovascular Research Centre, Glenfield Hospital, Leicester, LE3 9QP, UK.
Jessica van SettenDepartment of Cardiology, Division Heart & Lungs, University Medical Center Utrecht, Utrecht, the Netherlands.
Stella TrompetDepartment of Cardiology, Leiden University Medical Center, 2300 RC, Leiden, the Netherlands.
Bram P PrinsDepartment of Human Genetics, Wellcome Trust Sanger Institute, Hinxton, United Kingdom, CB10 1SA.
Aaron IsaacsCARIM School for Cardiovascular Diseases, Maastricht Centre for Systems Biology (MaCSBio), Dept. of Biochemistry, Maastricht University, Universiteitssingel 60, 6229 ER Maastricht, NL.
Farid RadmaneshCenter for Human Genetic Research, Massachusetts General Hospital, Boston, MA 02114.
Jonathan MartenMRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Western General Hospital, Crewe Road South, Edinburgh, EH4?2XU, UK.
Aiman EntwistleClinical Pharmacology, William Harvey Research Institute, Queen Mary University of London, London, EC1M 6BQ, UK.
Jan A KorsDepartment of Medical Informatics Erasmus MC - University Medical Center Rotterdam, P.O. Box 2040, 3000CA, Rotterdam, the Netherlands.
Claudia T SilvaGenetic Epidemiology Unit, Dept. of Epidemiology, Erasmus University Medical Center, PO Box 2040, 3000 CA Rotterdam, NL.
Alvaro AlonsoDepartment of Epidemiology, Rollins School of Public Health, Emory University, Atlanta, GA, 30322.
Joshua C BisCardiovascular Health Research Unit, Department of Medicine, University of Washington, 1730 Minor Ave, Suite 1360, Seattle, WA 98101, USA.
Rudolf de BoerUniversity Medical Center Groningen, University of Groningen, Department of Cardiology, the Netherlands.
Hugoline G de HaanDepartment of Clinical Epidemiology, Leiden University Medical Center, Leiden, the Netherlands.
Renée de MutsertDepartment of Clinical Epidemiology, Leiden University Medical Center, Leiden, the Netherlands.
George DedoussisDepartment of Nutrition and Dietetics, School of Health Science and Education, Harokopio University, Athens 17671, Greece.
Anna F DominiczakInstitute of Cardiovascular and Medical Sciences, College of Medical, Veterinary and Life Sciences, University of Glasgow, Glasgow, UK.
Alex S F DoneyDivision of Molecular and Clinical Medicine, School of Medicine, University of Dundee, DD1?9SY, UK.
Patrick T EllinorProgram in Medical and Population Genetics, Broad Institute, Cambridge, MA 02142.
Ruben N EppingaUniversity Medical Center Groningen, University of Groningen, Department of Cardiology, the Netherlands.
Stephan B FelixDepartment of Internal Medicine B - Cardiology, Pneumology, Infectious Diseases, Intensive Care Medicine; University Medicine Greifswald; Greifswald, 17475, Germany & DZHK (German Centre for Cardiovascular Research); partner site Greifswald; Greifswald, 17475, Germany.
Xiuqing GuoThe Institute for Translational Genomics and Population Sciences, Department of Pediatrics, Los Angeles Biomedical Research Institute at Harbor-UCLA Medical Center, 1124 W. Carson Street, Torrance, CA 90502, USA.
Yanick HagemeijerUniversity Medical Center Groningen, University of Groningen, Department of Cardiology, the Netherlands.
Torben HansenThe Novo Nordisk Foundation Center for Basic Metabolic Research, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.
Tamara B HarrisLaboratory of Epidemiology and Population Sciences, National Institute on Aging, Intramural Research Program, National Institutes of Health, Bethesda, Maryland, 20892, USA.
Susan R HeckbertCardiovascular Health Research Unit and Department of Epidemiology, University of Washington, 1730 Minor Ave, Suite 1360, Seattle, WA 98101, USA.
Paul L HuangCardiovascular Research Center, Massachusetts General Hospital, Charlestown, MA, USA.
Shih-Jen HwangPopulation Sciences Branch, Division of Intramural Research, NHLBI, NIH, Bethesda MD, USA.
Mika KähönenDepartment of Clinical Physiology, Tampere University Hospital and University of Tampere School of Medicine, Finn-Medi 1, 3th floor, P.O. Box 2000, FI-33521 Tampere, Finland.
Jørgen K KantersLaboratory of Experimental Cardiology, University of Copenhagen, Copenhagen, Denmark.
Ivana KolcicFaculty of Medicine, University of Split, Split, Croatia.
Lenore J LaunerLaboratory of Epidemiology and Population Sciences, National Institute on Aging, Intramural Research Program, National Institutes of Health, Bethesda, Maryland, 20892, USA.
Man LiDivision of Nephrology & Hypertension, Internal Medicine, School of Medicine, University of Utah, Salt Lake City, UT 84109, USA.
Jie YaoThe Institute for Translational Genomics and Population Sciences, Department of Pediatrics, Los Angeles Biomedical Research Institute at Harbor-UCLA Medical Center, 1124 W. Carson Street, Torrance, CA 90502, USA.
Allan LinnebergResearch Centre for Prevention and Health, Capital Region of Denmark, Copenhagen, Denmark.
Simin LiuBrown University School of Public Health, Providence, Rhode Island 02912, USA.
Peter W MacfarlaneInstitute of Health and Wellbeing, University of Glasgow, Glasgow, UK.
Massimo ManginoDepartment of Twin Research and Genetic Epidemiology, King's College London, London, UK.
Andrew D MorrisUsher Institute of Population Health Sciences and Informatics, University of Edinburgh, Edinburgh, EH8?9AG, UK.
Antonella MulasIstituto di Ricerca Genetica e Biomedica (IRGB), CNR, Monserrato, Italy.
Alison D MurrayAberdeen Biomedical Imaging Centre, Lilian Sutton Building, University of Aberdeen, Foresterhill, Aberdeen AB25?2ZD, UK.
Christopher P NelsonDepartment of Cardiovascular Sciences, University of Leicester, Cardiovascular Research Centre, Glenfield Hospital, Leicester, LE3 9QP, UK.
Marco OrrúUnita Operativa Complessa di Cardiologia, Presidio Ospedaliero Oncologico Armando Businco Cagliari , Azienda Ospedaliera Brotzu Cagliari, Caglliari, Italy.
Sandosh PadmanabhanInstitute of Cardiovascular and Medical Sciences, College of Medical, Veterinary and Life Sciences, University of Glasgow, Glasgow, UK.
Annette PetersDZHK (German Centre for Cardiovascular Research), partner site Munich Heart Alliance, Munich, Germany.
David J PorteousCentre for Genomic & Experimental Medicine, Institute of Genetics & Molecular Medicine, University of Edinburgh, Western General Hospital, Crewe Road South, Edinburgh EH4?2XU, UK.
Neil PoulterSchool of Public Health, Imperial College London, W2?1PG, UK.
Bruce M PsatyCardiovascular Health Research Unit, Department of Health Services, University of Washington, 1730 Minor Ave, Suite 1360, Seattle, WA 98101, USA.
Lihong QiUniversity of California Davis, One Shields Ave Ms1c 145, Davis, CA 95616 USA.
Olli T RaitakariDepartment of Clinical Physiology and Nuclear Medicine, Turku University Hospital, and Research Centre of Applied and Preventive Cardiovascular Medicine, University of Turku, P.O. Box 52, FI-20521 Turku, Finland.
Fernando RivadeneiraHuman Genomics Facility Erasmus MC - University Medical Center Rotterdam, P.O. Box 2040, 3000CA, Rotterdam, the Netherlands.
Carolina RoselliProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Igor RudanUsher Institute of Population Health Sciences and Informatics, University of Edinburgh, Edinburgh, EH8?9AG, UK.
Naveed SattarInstitute of Cardiovascular and Medical Sciences, University of Glasgow, BHF GCRC, Glasgow G12?8TA, UK.
Peter SeverNational Heart and Lung Institute, Imperial College London, W2?1PG, UK.
Moritz F SinnerDZHK (German Centre for Cardiovascular Research), partner site Munich Heart Alliance, Munich, Germany.
Elsayed Z SolimanEpidemiological Cardiology Research Center (EPICARE), Wake Forest School of Medicine, Winston-Salem, NC 27157, USA.
Timothy D SpectorDepartment of Twin Research and Genetic Epidemiology, King's College London, London, UK.
Alice V StantonMolecular and Cellular Therapeutics, Royal College of Surgeons in Ireland, Dublin 2, Ireland.
Kathleen E StirrupsClinical Pharmacology, William Harvey Research Institute, Queen Mary University of London, London, EC1M 6BQ, UK.
Kent D TaylorInstitute for Translational Genomics and Population Sciences, Los Angeles BioMedical Research Institute at Harbor-UCLA Medical Center, Torrance, CA, USA.
Martin D TobinDepartment of Health Sciences, University of Leicester, Leicester LE1?7RH, UK.
André UitterlindenHuman Genotyping Facility Erasmus MC - University Medical Center Rotterdam, P.O. Box 2040, 3000CA, Rotterdam, the Netherlands.
Ilonca VaartjesJulius Center for Health Sciences and Primary Care, University Medical Center, PO Box 85500, 3508 GA Utrecht, the Netherlands.
Arno W HoesResearch Unit of Molecular Epidemiology, Helmholtz Zentrum München - German Research Center for Environmental Health, Neuherberg, Germany.
Peter van der MeerUniversity Medical Center Groningen, University of Groningen, Department of Cardiology, the Netherlands.
Uwe VölkerInterfaculty Institute for Genetics and Functional Genomics; University Medicine and Ernst-Moritz-Arndt-University Greifswald; Greifswald, 17475, Germany.
Melanie WaldenbergerDZHK (German Centre for Cardiovascular Research), partner site Munich Heart Alliance, Munich, Germany.
Zhijun XieSection of Computational Biomedicine, Department of Medicine, Boston University School of Medicine, Boston, MA.
Magdalena ZoledziewskaIstituto di Ricerca Genetica e Biomedica (IRGB), CNR, Monserrato, Italy.
Andrew TinkerClinical Pharmacology, William Harvey Research Institute, Queen Mary University of London, London, EC1M 6BQ, UK.
Ozren PolasekFaculty of Medicine, University of Split, Split, Croatia.
Jonathan RosandCenter for Human Genetic Research, Massachusetts General Hospital, Boston, MA 02114.
Yalda JamshidiCardiogenetics Lab, Genetics and Molecular Cell Sciences Research Centre, Cardiovascular and Cell Sciences Institute, St George's, University of London, Cranmer Terrace, London, SW17?0RE, UK.
Cornelia M van DuijnGenetic Epidemiology Unit, Dept. of Epidemiology, Erasmus University Medical Center, PO Box 2040, 3000 CA Rotterdam, NL.
Eleftheria ZegginiDepartment of Human Genetics, Wellcome Trust Sanger Institute, Hinxton, United Kingdom, CB10?1SA.
J Wouter JukemaDepartment of Cardiology, Leiden University Medical Center, 2300 RC, Leiden, the Netherlands.
Folkert W AsselbergsDepartment of Cardiology, Division Heart & Lungs, University Medical Center Utrecht, Utrecht, the Netherlands.
Nilesh J SamaniDepartment of Cardiovascular Sciences, University of Leicester, Cardiovascular Research Centre, Glenfield Hospital, Leicester, LE3 9QP, UK.
Terho LehtimäkiDepartment of Clinical Chemistry, Fimlab Laboratories and University of Tampere School of Medicine, Arvo, D338, P.O. Box 100, FI-33014 Tampere, Finland.
Vilmundur GudnasonIcelandic Heart Association, 201 Kopavogur, Iceland.
James WilsonPhysiology & Biophysics, University of Mississippi Medical Center, Jackson, MI, USA.
Steven A LubitzProgram in Medical and Population Genetics, Broad Institute, Cambridge, MA 02142.
Stefan KääbDZHK (German Centre for Cardiovascular Research), partner site Munich Heart Alliance, Munich, Germany.
Nona SotoodehniaCardiovascular Health Research Unit, Division of Cardiology, Departments of Medicine and Epidemiology, University of Washington, 1730 Minor Ave, Suite 1360, Seattle, WA 98101, USA.
Mark J CaulfieldClinical Pharmacology, William Harvey Research Institute, Queen Mary University of London, London, EC1M 6BQ, UK.
Colin N A PalmerDivision of Molecular and Clinical Medicine, School of Medicine, University of Dundee, DD1?9SY, UK.
Serena SannaIstituto di Ricerca Genetica e Biomedica (IRGB), CNR, Monserrato, Italy.
Dennis O Mook-KanamoriDepartment of Clinical Epidemiology, Leiden University Medical Center, Leiden, the Netherlands.
Panos DeloukasClinical Pharmacology, William Harvey Research Institute, Queen Mary University of London, London, EC1M 6BQ, UK.
Oluf PedersenThe Novo Nordisk Foundation Center for Basic Metabolic Research, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.
Jerome I RotterThe Institute for Translational Genomics and Population Sciences, Departments of Pediatrics and Medicine, Los Angeles Biomedical Research Institute at Harbor-UCLA Medical Center, 1124 W. Carson Street, Torrance, CA 90502, USA.
Marcus DörrDepartment of Internal Medicine B - Cardiology, Pneumology, Infectious Diseases, Intensive Care Medicine; University Medicine Greifswald; Greifswald, 17475, Germany & DZHK (German Centre for Cardiovascular Research); partner site Greifswald; Greifswald, 17475, Germany.
Chris J O'DonnellBoston Veteran's Administration Healthcare, Boston MA, USA.
Caroline HaywardMRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Western General Hospital, Crewe Road South, Edinburgh, EH4?2XU, UK.
Dan E ArkingMcKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA, 21205 and.
Charles KooperbergDivision of Public Health Sciences, Fred Hutchinson Cancer Research Center, Seattle, WA 98109, USA.
Pim van der HarstUniversity Medical Center Groningen, University of Groningen, Department of Cardiology, the Netherlands.
Mark EijgelsheimDepartment of Epidemiology Erasmus MC - University Medical Center Rotterdam, P.O. Box 2040, 3000CA, Rotterdam, the Netherlands.
Bruno H StrickerDepartment of Epidemiology Erasmus MC - University Medical Center Rotterdam, P.O. Box 2040, 3000CA, Rotterdam, the Netherlands.
Patricia B MunroeClinical Pharmacology, William Harvey Research Institute, Queen Mary University of London, London, EC1M 6BQ, UK.
Erasmus MC · NLLeiden University Medical Center · NLWilliam Harvey Research Institute · GBUniversity of Washington · USGerman Centre for Cardiovascular Research · DEInstitute of Genetic and Biomedical Research · ITUniversity of Glasgow · GBHarbor–UCLA Medical Center · USMassachusetts General Hospital · USUniversity Medical Center Groningen · NLUniversity of Edinburgh · GBUniversity of Groningen · NLUniversity of Leicester · GBBoston University · USCenter for Human Genetics · USFimlab (Finland) · FIFred Hutch Cancer Center · USHelmholtz Zentrum München · DEIcelandic Heart Association · ISImperial College London · GB
Funding
UCLA Clinical Translational Science InstituteUL1TR001881 · NCATS · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI ARLEEN F. BROWN, ARASH NAEIM · 2016 to 2026
$118.1MInstitute for Clinical and Translational Research (UL1)UL1RR025005 · NCRR · JOHNS HOPKINS UNIVERSITY · PI FORD, DANIEL ERNEST · 2007 to 2011
$75.8MInstitute for Clinical and Translational ResearchUL1TR001079 · NCATS · JOHNS HOPKINS UNIVERSITY · PI FORD, DANIEL ERNEST · 2013 to 2017
$60.1MUCLA Clinical and Translational Science InstituteUL1TR000124 · NCATS · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI DUBINETT, STEVEN M. · 2012 to 2015
$57.0MTransgenic & Knock-out MouseP30DK063491 · NIDDK · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI PETER J TONTONOZ · 2003 to 2026
$40.4MBuilding on GWAS for NHLBI-disease: the CHARGE consortiumRC2HL102419 · NHLBI · UNIVERSITY OF TEXAS HLTH SCI CTR HOUSTON · PI BOERWINKLE, ERIC A. · 2009 to 2010
$27.6MClinical and Translational Science AwardUL1TR000040 · NCATS · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI GINSBERG, HENRY N · 2012 to 2015
$26.2MIDENTIFICATION OF COMMON GENETIC VARIANTS FOR ATRIAL FIBRILLATION AND PR INTERVALR01HL092577 · NHLBI · MASSACHUSETTS GENERAL HOSPITAL · PI BENJAMIN, EMELIA J., ELLINOR, PATRICK THOMAS · 2009 to 2025
$20.6MUCLA CLINICAL AND TRANSLATIONAL SCIENCE INSTITUTEUL1RR033176 · NCRR · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI DUBINETT, STEVEN M. · 2011 to 2011
$15.5MStudies of Rare Genetic Variation in the Isolated Population of SardiniaR01HL117626 · NHLBI · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI ABECASIS, GONCALO · 2013 to 2016
$10.5MMulti-Ethnic Study of Atherosclerosis (MESA) StudyR01HL071205 · NHLBI · CEDARS-SINAI MEDICAL CENTER · PI ROTTER, JEROME I · 2003 to 2007
$10.4MExceptional Survival: Trajectories to Functional Aging (CHS All Stars)R01AG023629 · NIA · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI NEWMAN, ANNE B. · 2004 to 2016
$9.5MBritish Heart Foundation PG/12/38/29615British Heart Foundation PG/17/59/33139British Heart Foundation RG/14/5/30893Medical Research Council G0000934Medical Research Council G0600237Medical Research Council G1001799Medical Research Council G9521010Medical Research Council MC_PC_13040Medical Research Council MC_PC_14089Medical Research Council MC_PC_U127561128Medical Research Council MC_QA137853Medical Research Council MR/K006584/1Medical Research Council MR/K007017/1Medical Research Council MR/L016311/1Medical Research Council MR/M501633/1Medical Research Council MR/M501633/2Medical Research Council MR/N005813/1Medical Research Council MR/N01104X/1Medical Research Council MR/N01104X/2Medical Research Council MR/N025083/1NCATS NIH HHS UL1 TR000040NCATS NIH HHS UL1 TR000124NCATS NIH HHS UL1 TR001079NCATS NIH HHS UL1 TR001881NCRR NIH HHS UL1 RR025005NCRR NIH HHS UL1 RR033176NHGRI NIH HHS R01 HG007022NHGRI NIH HHS R01 HG007089NHGRI NIH HHS RC2 HG005552NHGRI NIH HHS RC2 HG005581NHGRI NIH HHS U01 HG006513NHLBI NIH HHS HHSN268200800007CNHLBI NIH HHS HHSN268201000031CNHLBI NIH HHS HHSN268201100005CNHLBI NIH HHS HHSN268201100005GNHLBI NIH HHS HHSN268201100005INHLBI NIH HHS HHSN268201100006CNHLBI NIH HHS HHSN268201100007CNHLBI NIH HHS HHSN268201100007INHLBI NIH HHS HHSN268201100008CNHLBI NIH HHS HHSN268201100008INHLBI NIH HHS HHSN268201100009CNHLBI NIH HHS HHSN268201100009INHLBI NIH HHS HHSN268201100010CNHLBI NIH HHS HHSN268201100011CNHLBI NIH HHS HHSN268201100011INHLBI NIH HHS HHSN268201100012CNHLBI NIH HHS HHSN268201200036CNHLBI NIH HHS HHSN268201300046CNHLBI NIH HHS HHSN268201300047CNHLBI NIH HHS HHSN268201300049CNHLBI NIH HHS HHSN268201300050CNHLBI NIH HHS HHSN268201500001CNHLBI NIH HHS HHSN268201500001INHLBI NIH HHS HHSN268201500003CNHLBI NIH HHS HHSN268201500003INHLBI NIH HHS HHSN268201600001CNHLBI NIH HHS HHSN268201600002CNHLBI NIH HHS HHSN268201600003CNHLBI NIH HHS HHSN268201600004CNHLBI NIH HHS K23 HL114724NHLBI NIH HHS K24 HL105780NHLBI 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 HC095168NHLBI NIH HHS N01 HC095169NHLBI NIH HHS R01 HL071205NHLBI NIH HHS R01 HL071250NHLBI NIH HHS R01 HL071251NHLBI NIH HHS R01 HL071252NHLBI NIH HHS R01 HL071258NHLBI NIH HHS R01 HL071259NHLBI NIH HHS R01 HL087652NHLBI NIH HHS R01 HL092577NHLBI NIH HHS R01 HL103612NHLBI NIH HHS R01 HL105756NHLBI NIH HHS R01 HL111089NHLBI NIH HHS R01 HL116747NHLBI NIH HHS R01 HL117626NHLBI NIH HHS R01 HL120393NHLBI NIH HHS RC2 HL102419NHLBI NIH HHS U01 HL080295NHLBI NIH HHS U01 HL117626NHLBI NIH HHS U01 HL130114NIA NIH HHS R01 AG023629NIDA NIH HHS HHSN271201100005CNIDDK NIH HHS P30 DK063491NIH HHS S10 OD020069NINDS NIH HHS K23 NS059774NINDS NIH HHS R01 NS059727NINDS NIH HHS R01 NS073344Wellcome TrustWellcome Trust 068545/Z/02
Abstract
Resting heart rate is a heritable trait, and an increase in heart rate is associated with increased mortality risk. Genome-wide association study analyses have found loci associated with resting heart rate, at the time of our study these loci explained 0.9% of the variation. This study aims to discover new genetic loci associated with heart rate from Exome Chip meta-analyses.Heart rate was measured from either elecrtrocardiograms or pulse recordings. We meta-analysed heart rate association results from 104 452 European-ancestry individuals from 30 cohorts, genotyped using the Exome Chip. Twenty-four variants were selected for follow-up in an independent dataset (UK Biobank, N = 134 251). Conditional and gene-based testing was undertaken, and variants were investigated with bioinformatics methods.We discovered five novel heart rate loci, and one new independent low-frequency non-synonymous variant in an established heart rate locus (KIAA1755). Lead variants in four of the novel loci are non-synonymous variants in the genes C10orf71, DALDR3, TESK2 and SEC31B. The variant at SEC31B is significantly associated with SEC31B expression in heart and tibial nerve tissue. Further candidate genes were detected from long-range regulatory chromatin interactions in heart tissue (SCD, SLF2 and MAPK8). We observed significant enrichment in DNase I hypersensitive sites in fetal heart and lung. Moreover, enrichment was seen for the first time in human neuronal progenitor cells (derived from embryonic stem cells) and fetal muscle samples by including our novel variants.Our findings advance the knowledge of the genetic architecture of heart rate, and indicate new candidate genes for follow-up functional studies.
Indexed as
AdultAllelesExomeFemaleGene FrequencyGenetic LociGenetic Predisposition to DiseaseGenome-Wide Association StudyGenotypeHeart RateHumansMaleMiddle AgedOligonucleotide Array Sequence AnalysisPolymorphism, Single NucleotideRisk Factors
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