ArticleNature communications2024
Rare variant contribution to the heritability of coronary artery disease.
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Article in Nature communications, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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16citing papers in PubMed
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Who cites it
16 citing papers in PubMed.
- 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
- Assessing genetic risk factors for early-onset coronary artery disease in Iranians.Research and practice in thrombosis and haemostasis · 2026Article
- UK Biobank whole-genome sequencing reveals robust contributions of rare variants to complex-trait heritability.Genome biology · 2026Article
- Improving Polygenic Risk Prediction for Atherosclerotic Cardiovascular Disease in East Asian Populations.JACC. Asia · 2026Review
- Whole Genome Sequence Analysis of Weight Loss in 16 972 Participants With COPD Reveals Novel Risk Loci in DRAIC and RFX3.Journal of cachexia, sarcopenia and muscle · 2026Article
- Genetic factors contributing to atherosclerosis.Current opinion in cardiology · 2026Review
- Pitfalls in estimating and interpreting the contribution of ultra-rare genetic variants to the heritability of complex traits.medRxiv : the preprint server for health sciences · 2026Article
- Statistical uncertainty explains the poor agreement in polygenic scoring for type 2 diabetes.medRxiv : the preprint server for health sciences · 2026Article
- Whole-genome sequencing analysis of anthropometric traits in 672,976 individuals reveals convergence between rare and common genetic associations.Nature communications · 2026Article
- MIRAGE: A Bayesian statistical method for gene-level rare-variant analysis incorporating functional annotations.American journal of human genetics · 2026Article
- Article
- Sex differences in LMR ratio and coronary artery stenosis severity among patients with coronary artery disease.Frontiers in cardiovascular medicine · 2026Article
- Article
- Identification of novel and known variants inFrontiers in cardiovascular medicine · 2026Article
- Ancestry gaps in cardiovascular GWAS: a multi-database review of African representation in genomic studies.Frontiers in genetics · 2025Review
- TRAF3IP2 as a novel inflammatory biomarker for coronary artery disease: development and validation of a multimodal prediction model.Frontiers in endocrinology · 2025Article
Corrections and comments
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Authors and funding
57 authors.
Ghislain RocheleauThe Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA.ORCID 0000-0002-9989-7553
Shoa L ClarkeDepartment of Medicine, Stanford Prevention Research Center, Stanford University School of Medicine, Stanford, CA, USA.ORCID 0000-0002-6592-1172
Gaëlle AugusteCenter for Public Health Genomics, University of Virginia, Charlottesville, VA, USA.ORCID 0000-0003-4900-6959
Natalie R HasbaniDepartment of Epidemiology, Human Genetics, and Environmental Sciences, Human Genetics Center, School of Public Health, The University of Texas Health Science Center at Houston, Houston, TX, USA.ORCID 0000-0001-9874-3440
Alanna C MorrisonDepartment of Epidemiology, Human Genetics, and Environmental Sciences, Human Genetics Center, School of Public Health, The University of Texas Health Science Center at Houston, Houston, TX, USA.ORCID 0000-0001-6381-4296
Adam S HeathDepartment of Epidemiology, Human Genetics, and Environmental Sciences, Human Genetics Center, School of Public Health, The University of Texas Health Science Center at Houston, Houston, TX, USA.
Lawrence F BielakDepartment of Epidemiology, School of Public Health, University of Michigan, Ann Arbor, MI, USA.ORCID 0000-0002-3443-8030
Kruthika R IyerDepartment of Medicine, Division of Cardiovascular Medicine, Stanford University School of Medicine, Stanford, CA, USA.
Erica P YoungDepartment of Medicine, Division of Cardiology, Washington University School of Medicine, Saint Louis, MO, USA.ORCID 0000-0002-3671-211X
Nathan O StitzielDepartment of Medicine, Division of Cardiology, Washington University School of Medicine, Saint Louis, MO, USA.ORCID 0000-0002-4963-8211
Goo JunHuman Genetics Center, School of Public Health, The University of Texas Health Science Center at Houston, Houston, TX, USA.
Cecelia LaurieDepartment of Biostatistics, University of Washington, Seattle, WA, USA.ORCID 0000-0001-6569-2501
Jai G BroomeDepartment of Biostatistics, University of Washington, Seattle, WA, USA.ORCID 0000-0001-7638-0749
Alyna T KhanDepartment of Biostatistics, University of Washington, Seattle, WA, USA.
Donna K ArnettCollege of Public Health, University of Kentucky, Lexington, KY, USA.
Lewis C BeckerGeneSTAR Research Program, Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Joshua C BisDepartment of Medicine, Cardiovascular Health Research Unit, University of Washington, Seattle, WA, USA.ORCID 0000-0002-3409-1110
Eric BoerwinkleDepartment of Epidemiology, Human Genetics, and Environmental Sciences, Human Genetics Center, School of Public Health, The University of Texas Health Science Center at Houston, Houston, TX, USA.
Donald W BowdenDepartment of Biochemistry, Wake Forest University School of Medicine, Winston-Salem, NC, USA.
April P CarsonDepartment of Medicine, University of Mississippi Medical Center, Jackson, MS, USA.ORCID 0000-0002-7970-6756
Patrick T EllinorCardiovascular Research Center, Massachusetts General Hospital, Boston, MA, USA.ORCID 0000-0002-2067-0533
Myriam FornageDepartment of Epidemiology, Human Genetics, and Environmental Sciences, Human Genetics Center, School of Public Health, The University of Texas Health Science Center at Houston, Houston, TX, USA.ORCID 0000-0003-0677-8158
Nora FranceschiniDepartment of Epidemiology, Gillings School of Global Public Health, University of North Carolina, Chapel Hill, NC, USA.ORCID 0009-0001-8346-3662
Barry I FreedmanDepartment of Internal Medicine, Section on Nephrology, Wake Forest University School of Medicine, Winston-Salem, NC, USA.ORCID 0000-0003-0275-5530
Nancy L Heard-CostaNational Heart, Lung, and Blood Institute and Boston University's Framingham Heart Study, Framingham, MA, USA.ORCID 0000-0001-9730-0306
Lifang HouDepartment of Preventive Medicine, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.
Yii-Der Ida ChenDepartment of Pediatrics, The Institute for Translational Genomics and Population Sciences, The Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center, Torrance, CA, USA.ORCID 0000-0003-1741-3517
Eimear E KennyDepartment of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Charles KooperbergDivision of Public Health Sciences, Fred Hutchinson Cancer Center, Seattle, WA, USA.ORCID 0000-0002-7986-8560
Brian G KralGeneSTAR Research Program, Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.ORCID 0000-0001-9493-2084
Ruth J F LoosThe Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA.ORCID 0000-0002-8532-5087
Sharon M LutzDepartment of Population Medicine, Harvard Pilgrim Health Care, Boston, MA, USA.
JoAnn E MansonDepartment of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.ORCID 0000-0002-9426-7595
Lisa W MartinSchool of Medicine and Health Sciences, George Washington University, Washington, DC, USA.ORCID 0000-0003-4352-0914
Braxton D MitchellDepartment of Medicine, University of Maryland School of Medicine, Baltimore, MD, USA.ORCID 0000-0003-4920-4744
Rami NassirDepartment of Pathology, School of Medicine, Umm Al-Qura University, Mecca, Saudi Arabia.ORCID 0000-0001-9914-7851
Nicholette D PalmerDepartment of Biochemistry, Wake Forest University School of Medicine, Winston-Salem, NC, USA.ORCID 0000-0001-8883-2511
Wendy S PostJohns Hopkins Bloomberg School of Public Health, Johns Hopkins University School of Medicine, Baltimore, MD, USA.ORCID 0000-0002-8655-5204
Michael H PreussThe Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA.ORCID 0000-0001-5266-8465
Bruce M PsatyDepartment of Medicine, Cardiovascular Health Research Unit, University of Washington, Seattle, WA, USA.ORCID 0000-0002-7278-2190
Laura M RaffieldDepartment of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
Elizabeth A ReganDepartment of Medicine, Division of Rheumatology, National Jewish Health, Denver, CO, USA.
Stephen S RichCenter for Public Health Genomics, University of Virginia, Charlottesville, VA, USA.ORCID 0000-0003-3872-7793
Jennifer A SmithDepartment of Epidemiology, School of Public Health, University of Michigan, Ann Arbor, MI, USA.ORCID 0000-0002-3575-5468
Kent D TaylorDepartment of Pediatrics, The Institute for Translational Genomics and Population Sciences, The Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center, Torrance, CA, USA.
Lisa R YanekGeneSTAR Research Program, Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.ORCID 0000-0001-7117-1075
Kendra A YoungDepartment of Epidemiology, Colorado School of Public Health, University of Colorado Anschutz Medical Campus, Aurora, CO, USA.ORCID 0000-0002-8664-7635
NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium
Austin T HilliardVA Palo Alto Health Care System, Palo Alto, CA, USA.ORCID 0000-0002-1289-4377
Catherine TcheandjieuDepartment of Medicine, Division of Cardiovascular Medicine, Stanford University School of Medicine, Stanford, CA, USA.ORCID 0000-0001-9559-4339
Patricia A PeyserDepartment of Epidemiology, School of Public Health, University of Michigan, Ann Arbor, MI, USA.ORCID 0000-0002-9717-8459
Ramachandran S VasanNational Heart, Lung, and Blood Institute and Boston University's Framingham Heart Study, Framingham, MA, USA.ORCID 0000-0001-7357-5970
Jerome I RotterDepartment of Pediatrics, The Institute for Translational Genomics and Population Sciences, The Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center, Torrance, CA, USA.ORCID 0000-0001-7191-1723
Clint L MillerCenter for Public Health Genomics, University of Virginia, Charlottesville, VA, USA.ORCID 0000-0003-4276-3607
Themistocles L AssimesDepartment of Medicine, Division of Cardiovascular Medicine, Stanford University School of Medicine, Stanford, CA, USA.ORCID 0000-0003-2349-0009
Paul S de VriesDepartment of Epidemiology, Human Genetics, and Environmental Sciences, Human Genetics Center, School of Public Health, The University of Texas Health Science Center at Houston, Houston, TX, USA.ORCID 0000-0003-0964-0111
Ron DoThe Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA. ron.do@mssm.edu.ORCID 0000-0002-3144-3627
Funding
Large Scale Sequencing and Analysis of GenomesU54HG003067 · NHGRI · MASSACHUSETTS INSTITUTE OF TECHNOLOGY · PI GABRIEL, STACEY, LANDER, ERIC S · 2004 to 2015
$568.6MThe Human Genome Sequencing CenterU54HG003273 · NHGRI · BAYLOR COLLEGE OF MEDICINE · PI GIBBS, RICHARD A · 2004 to 2015
$341.3MSupplement Proposal: Accelerated Genome Aggregation and Joint Variant Calling EffortUM1HG008853 · NHGRI · WASHINGTON UNIVERSITY · PI HALL, IRA M, MILBRANDT, JEFFREY D · 2016 to 2020
$76.2MConduits: Mount Sinai Health System Translational Science HubUL1TR004419 · NCATS · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI Rosalind J Wright · 2022 to 2026
$46.4MUNC-CH CENTER FOR ENVIRONMENTAL HEALTH &SUSCEPTIBILITYP30ES010126 · NIEHS · UNIV OF NORTH CAROLINA CHAPEL HILL · PI Hazel B Nichols · 2001 to 2026
$36.3MUniversity of Maryland Claude D. Pepper Older Americans Independence Center (UM-OAIC)P30AG028747 · NIA · UNIVERSITY OF MARYLAND BALTIMORE · PI ALICE S. RYAN · 2006 to 2026
$28.9MIDENTIFICATION 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(2 of 2) Genetic Epidemiology of COPDR01HL089856 · NHLBI · BRIGHAM AND WOMEN'S HOSPITAL · PI SILVERMAN, EDWIN K · 2012 to 2016
$18.9MHYPERGEN: GENETICS OF LEFT VENTRICULAR HYPERTROPHYR01HL055673 · NHLBI · UNIVERSITY OF MINNESOTA TWIN CITIES · PI ARNETT, DONNA K · 1996 to 2016
$18.1MStudies of Rare Genetic Variation in the Isolated Population of SardiniaR01HL117626 · NHLBI · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI ABECASIS, GONCALO · 2013 to 2016
$10.5MCHARGE Consortium: Omics Discovery for CVD and Aging PhenotypesR01HL105756 · NHLBI · UNIVERSITY OF WASHINGTON · PI Bruce M Psaty, NICHOLAS L SMITH · 2011 to 2026
$9.5MRare variants and NHLBI traits in deeply phenotyped cohortsR01HL120393 · NHLBI · UNIVERSITY OF WASHINGTON · PI PSATY, BRUCE M, RICE, KENNETH M. · 2014 to 2016
$8.9MBLRD VA I01 BX005831NCATS NIH HHS UL1 TR004419NHGRI NIH HHS U54 HG003067NHGRI NIH HHS U54 HG003273NHGRI NIH HHS UM1 HG008853NHLBI NIH HHS HHSN268201100037CNHLBI NIH HHS HHSN268201500014CNHLBI NIH HHS HHSN268201500015CNHLBI NIH HHS HHSN268201800001CNHLBI NIH HHS R01 HL055673NHLBI NIH HHS R01 HL089856NHLBI NIH HHS R01 HL092577NHLBI NIH HHS R01 HL105756NHLBI NIH HHS R01 HL112064NHLBI NIH HHS R01 HL117626NHLBI NIH HHS R01 HL120393NHLBI NIH HHS R01 HL121007NHLBI NIH HHS R01 HL139731NHLBI NIH HHS R01 HL139865NHLBI NIH HHS R01 HL146860NHLBI NIH HHS R01 HL148239NHLBI NIH HHS R01 HL155915NHLBI NIH HHS R01 HL157635NHLBI NIH HHS R01 HL164577NHLBI NIH HHS R01 HL167072NHLBI NIH HHS U01 HL120393NIA NIH HHS P30 AG028747NIEHS NIH HHS HHSN268201600033CNIEHS NIH HHS P30 ES010126NIGMS NIH HHS R35 GM124836NIH HHS S10 OD026880NIH HHS S10 OD030463U.S. Department of Health & Human Services | NIH | National Heart, Lung, and Blood Institute (NHLBI) R01-HL139865, R01-HL155915U.S. Department of Health & Human Services | NIH | National Institute of General Medical Sciences (NIGMS) R35-GM124836
Abstract
Whole genome sequences (WGS) enable discovery of rare variants which may contribute to missing heritability of coronary artery disease (CAD). To measure their contribution, we apply the GREML-LDMS-I approach to WGS of 4949 cases and 17,494 controls of European ancestry from the NHLBI TOPMed program. We estimate CAD heritability at 34.3% assuming a prevalence of 8.2%. Ultra-rare (minor allele frequency ≤ 0.1%) variants with low linkage disequilibrium (LD) score contribute ~50% of the heritability. We also investigate CAD heritability enrichment using a diverse set of functional annotations: i) constraint; ii) predicted protein-altering impact; iii) cis-regulatory elements from a cell-specific chromatin atlas of the human coronary; and iv) annotation principal components representing a wide range of functional processes. We observe marked enrichment of CAD heritability for most functional annotations. These results reveal the predominant role of ultra-rare variants in low LD on the heritability of CAD. Moreover, they highlight several functional processes including cell type-specific regulatory mechanisms as key drivers of CAD genetic risk.
Indexed as
Coronary Artery DiseaseGenetic Predisposition to DiseaseLinkage DisequilibriumPolymorphism, Single NucleotideCase-Control StudiesFemaleGene FrequencyGenetic VariationGenome-Wide Association StudyHumansMaleMiddle AgedWhite PeopleWhole Genome Sequencing
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