ArticleCirculation. Genomic and precision medicine2022
Gene Sequencing Identifies Perturbation in Nitric Oxide Signaling as a Nonlipid Molecular Subtype of Coronary Artery Disease.
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Article in Circulation. Genomic and precision medicine, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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8citing papers in PubMed
0.8field-weighted citation impact, top 31% of its field
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Who cites it
8 citing papers in PubMed, 10 citations in OpenAlex.
- Nitric Oxide Signaling in Cardiovascular Physiology and Pathology: Mechanisms, Dysregulation, and Therapeutic Frontiers.International journal of molecular sciences · 2026Review
- ThebioRxiv : the preprint server for biology · 2025Article
- Rare coding variant analysis for human diseases across biobanks and ancestries.Nature genetics · 2024Article
- Exome sequence analysis identifies rare coding variants associated with a machine learning-based marker for coronary artery disease.Nature genetics · 2024Article
- The Role of Endothelial Cells in Atherosclerosis: Insights from Genetic Association Studies.The American journal of pathology · 2024Review
- Article
- exFINDER: identify external communication signals using single-cell transcriptomics data.Nucleic acids research · 2023Article
- The potential relationship of coronary artery disease and hyperuricemia: A cardiometabolic risk factor.Heliyon · 2023Review
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Authors and funding
26 authors at 19 institutions in 10 countries.
Amit V Khera *Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA (A.V.K.).ORCID 0000-0001-6535-5839
Minxian Wang *Center for Genomic Medicine, Massachusetts General Hospital, Boston, (A.V.K., M.W., C.A.E., S.K.).ORCID 0000-0002-3753-508X
Mark ChaffinProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA (M.W., M.C., C.A.E., S.G., E.S.L.).ORCID 0000-0002-1234-5562
Connor A EmdinCenter for Genomic Medicine, Massachusetts General Hospital, Boston, (A.V.K., M.W., C.A.E., S.K.).ORCID 0000-0002-2385-8259
Nilesh J SamaniDepartment of Cardiovascular Sciences, University of Leicester, United Kingdom (N.J.S.).ORCID 0000-0002-2385-8259
Heribert SchunkertDepartment of Cardiology, German Heart Center Munich, Technical University of Munich, Germany (H.S.).ORCID 0000-0001-6428-3001
Hugh WatkinsDivision of Cardiovascular Medicine, Radcliffe Department of Medicine, University of Oxford, Headington, United Kingdom (H.W.).ORCID 0000-0002-5287-9016
Ruth McPhersonInstitute for Cardiogenetics, University of Lübeck, Schleswig-Holstein, Germany (R.M., J.E.).ORCID 0000-0002-9087-6107
Jeanette ErdmannDZHK (German Center for Cardiovascular Research), Partner site Munich, Munich Heart Alliance, Munich, Germany (H.S., J.E.).
Roberto ElosuaCardiovascular Epidemiology and Genetics, Hospital del Mar Research Institute, Barcelona, Spain (R.E.).ORCID 0000-0001-8235-0095
Eric BoerwinkleCenter for Human Genetics and Department of Epidemiology, University of Texas Health Science Center School of Public Health, Houston, TX (E.B.).ORCID 0000-0001-8813-0544
Diego ArdissinoCardiology, Azienda Ospedaliero-Universitaria di Parma, University of Parma, Italy (D.A.).ORCID 0000-0003-0410-3528
Adam S ButterworthBritish Heart Foundation Cardiovascular Epidemiology Unit, Department of Public Health and Primary Care, (A.S.B., E.D.A., J.D., R.C.).ORCID 0000-0002-6915-9015
Emanuele Di AngelantonioBritish Heart Foundation Cardiovascular Epidemiology Unit, Department of Public Health and Primary Care, (A.S.B., E.D.A., J.D., R.C.).ORCID 0000-0001-8776-6719
Aliya NaheedInitiative for Noncommunicable Bangladesh, Diseases, Health Systems and Population Studies Division, International Center for Diarrheal Disease Research, Dhaka, Bangladesh (A.N.).
John DaneshBritish Heart Foundation Cardiovascular Epidemiology Unit, Department of Public Health and Primary Care, (A.S.B., E.D.A., J.D., R.C.).
Rajiv ChowdhuryBritish Heart Foundation Cardiovascular Epidemiology Unit, Department of Public Health and Primary Care, (A.S.B., E.D.A., J.D., R.C.).
Harlan M KrumholzSection of Cardiovascular Medicine, Department of Medicine, Yale University, New Haven, CT (H.M.K.).ORCID 0000-0003-2046-127X
Wayne H-H SheuCardiovascular Research Center, Department of Medicine, National Yang Ming University School of Medicine, Taipei, Taiwan (W.H.-H.S.).ORCID 0000-0002-8805-8340
Stephen S RichCenter for Public Health Genomics, University of Virginia, Charlottesville, (S.S.R.).ORCID 0000-0003-3872-7793
Jerome I RotterThe Institute for Translational Genomics and Population Sciences, Department of Pediatrics, The Lundquist Inst for Biomedical Innovation at Harbor-UCLA Medical Center, Torrance, CA (J.I.R., Y.-d.I.C.).ORCID 0000-0001-7191-1723
Yii-der Ida ChenThe Institute for Translational Genomics and Population Sciences, Department of Pediatrics, The Lundquist Inst for Biomedical Innovation at Harbor-UCLA Medical Center, Torrance, CA (J.I.R., Y.-d.I.C.).ORCID 0000-0003-1741-3517
Stacey GabrielProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA (M.W., M.C., C.A.E., S.G., E.S.L.).
Eric S LanderProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA (M.W., M.C., C.A.E., S.G., E.S.L.).ORCID 0000-0003-2662-4631
Danish SaleheenVerve Therapeutics, Cambridge, MA (S.K.).
Sekar KathiresanCenter for Genomic Medicine, Massachusetts General Hospital, Boston, (A.V.K., M.W., C.A.E., S.K.).ORCID 0000-0002-3711-7101
Broad Institute · USBritish Heart Foundation · GBUCLA Medical Center · USCenter for Human Genetics · USCentre for Human Genetics · GBGerman Centre for Cardiovascular Research · DEHarvard University · USInternational Centre for Diarrhoeal Disease Research · BDNational Yang Ming Chiao Tung University · TWUniversitat de Vic - Universitat Central de Catalunya · ESUniversität Hamburg · DEUniversity of Cambridge · GBUniversity of Leicester · GBUniversity of Ottawa · CAUniversity of Parma · ITUniversity of Virginia · USVerve Therapeutics (United States) · USWellcome Sanger Institute · GBYale New Haven Hospital · US
Funding
Large Scale Sequencing and Analysis of GenomesU54HG003067 · NHGRI · MASSACHUSETTS INSTITUTE OF TECHNOLOGY · PI GABRIEL, STACEY, LANDER, ERIC S · 2004 to 2015
$568.6MUCLA Clinical Translational Science InstituteUL1TR001881 · NCATS · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI ARLEEN F. BROWN, ARASH NAEIM · 2016 to 2026
$118.1MCenter for Common Disease GeneticsUM1HG008895 · NHGRI · BROAD INSTITUTE, INC. · PI DALY, MARK JOSEPH, GABRIEL, STACEY · 2016 to 2020
$111.2MYale Clinical and Translational Science Award (U Component)UL1TR001863 · NCATS · YALE UNIVERSITY · PI John H. Krystal, LUCILA OHNO-MACHADO · 2016 to 2026
$102.9MInstitute for Clinical and Translational ResearchUL1TR001079 · NCATS · JOHNS HOPKINS UNIVERSITY · PI FORD, DANIEL ERNEST · 2013 to 2017
$60.1MTransgenic & Knock-out MouseP30DK063491 · NIDDK · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI Andrea L Hevener · 2003 to 2026
$40.4MWake Forest Clinical and Translational Science AwardUL1TR001420 · NCATS · WAKE FOREST UNIVERSITY HEALTH SCIENCES · PI ARD, JAMY D, FOLEY, KRISTIE L · 2015 to 2023
$32.3MClinical and Translational Science AwardUL1TR000040 · NCATS · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI GINSBERG, HENRY N · 2012 to 2015
$26.2MTask 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
$17.2MStudies of Rare Genetic Variation in the Isolated Population of SardiniaR01HL117626 · NHLBI · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI ABECASIS, GONCALO · 2013 to 2016
$10.5MRare variants and NHLBI traits in deeply phenotyped cohortsR01HL120393 · NHLBI · UNIVERSITY OF WASHINGTON · PI PSATY, BRUCE M, RICE, KENNETH M. · 2014 to 2016
$8.9MTask Area A shall encompass annual follow-up of cohort members, clinical events investigations, study operations, and data analysis and manuscript writing. If implemented, Task A.1 will provide fundin75N92020D00005 · NHLBI · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI WATSON, KAROL E · 2020 to 2025
$5.1MBritish Heart Foundation CH/12/2/29428British Heart Foundation CH/1992001/6764British Heart Foundation RG/13/13/30194British Heart Foundation RG/18/13/33946Medical Research Council MC_PC_17228Medical Research Council MC_QA137853Medical Research Council MR/L003120/1NCATS NIH HHS UL1 TR000040NCATS NIH HHS UL1 TR001079NCATS NIH HHS UL1 TR001420NCATS NIH HHS UL1 TR001863NCATS NIH HHS UL1 TR001881NHGRI NIH HHS K08 HG010155NHGRI NIH HHS U54 HG003067NHGRI NIH HHS UM1 HG008895NHLBI NIH HHS 75N92020D00001NHLBI NIH HHS 75N92020D00002NHLBI NIH HHS 75N92020D00003NHLBI NIH HHS 75N92020D00004NHLBI NIH HHS 75N92020D00005NHLBI NIH HHS 75N92020D00006NHLBI NIH HHS 75N92020D00007NHLBI NIH HHS HHSN268201500003CNHLBI NIH HHS HHSN268201500003INHLBI 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 HL117626NHLBI NIH HHS R01 HL120393NIDDK NIH HHS P30 DK063491Wellcome Trust
Abstract
backgroundA key goal of precision medicine is to disaggregate common, complex diseases into discrete molecular subtypes. Rare coding variants in the low-density lipoprotein receptor gene (
methodsTo search for additional subtypes, we compared the frequency of rare, predicted loss-of-function and damaging missense variants aggregated within a given gene in 41 081 CAD cases versus 217 115 controls.
resultsRare variants in
conclusionsBeyond
Indexed as
Coronary Artery DiseaseHypercholesterolemiaCholesterolHumansNitric OxidePolymorphism, GeneticCholesterolNitric Oxideatherosclerosiscoronary artery diseasegenetic association studiesnitric oxide synthase type IIIprecision medicine
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