ArticleJournal of the American Heart Association2025
Unveiling the Genetic Landscape of Coronary Artery Disease Through Common and Rare Structural Variants.
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Article in Journal of the American Heart Association, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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6citing papers in PubMed
–field-weighted citation impact
What it found
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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.
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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.
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Who cites it
6 citing papers in PubMed.
- Broiler Ascites Syndrome as a Potential Spontaneous Animal Model for Human Pulmonary Arterial Hypertension: A Narrative Review.Life (Basel, Switzerland) · 2026Review
- Structural variants in human congenital heart disease disrupt distal genomic regulatory contacts of developmental genes.bioRxiv : the preprint server for biology · 2026Article
- Whole-exome sequencing in obstructive coronary artery disease identifies rare and novel variants in cardiac arrhythmia and pulmonary arterial hypertension-associated genes.Biomolecules & biomedicine · 2026Article
- In Vivo Models of Cardiovascular Disease:Biomedicines · 2025Review
- Risk Factors and Genetic Insights into Coronary Artery Disease-Related Sudden Cardiac Death: A Molecular Analysis of Forensic Investigation.International journal of molecular sciences · 2025Article
- Identifying Structural Variants and Their Contribution to Cardiovascular Disease Risk: The Long and the Short of It.Journal of the American Heart Association · 2025Article
Corrections and comments
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Authors and funding
65 authors.
Kruthika R IyerData Science and Biotechnology, Gladstone Institutes San Francisco CA USA.
Shoa L ClarkeDepartment of Medicine, Division of Cardiovascular Medicine Stanford University School of Medicine Stanford CA USA.ORCID 0000-0002-6592-1172
Rodrigo Guarischi-SousaDepartment of Medicine, Division of Cardiovascular Medicine Stanford University School of Medicine Stanford CA USA.ORCID 0000-0002-3614-9996
Ketrin GjoniData Science and Biotechnology, Gladstone Institutes San Francisco CA USA.ORCID 0000-0001-5833-1089
Adam S HeathDepartment of Epidemiology, Human Genetics Center, School of Public Health The University of Texas Health Science Center at Houston Houston TX USA.ORCID 0000-0002-5909-9055
Erica P YoungDepartment of Medicine, Division of Cardiology Washington University School of Medicine Saint Louis MO USA.
Nathan O StitzielDepartment of Medicine, Division of Cardiology Washington University School of Medicine Saint Louis MO USA.ORCID 0000-0002-4963-8211
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.ORCID 0000-0002-2240-7931
Joshua P LewisDepartment of Medicine University of Maryland School of Medicine Baltimore MD USA.ORCID 0000-0002-4107-6066
Huichun XuDepartment of Medicine University of Maryland School of Medicine Baltimore MD USA.ORCID 0000-0001-8118-9607
May E MontasserDepartment of Medicine University of Maryland School of Medicine Baltimore MD USA.ORCID 0000-0002-9558-5456
Kellan E AshleyDepartment of Medicine University of Mississippi Medical Center Jackson MS USA.
Natalie R HasbaniDepartment of Epidemiology, Human Genetics Center, School of Public Health The University of Texas Health Science Center at Houston Houston TX USA.ORCID 0000-0001-9874-3440
Eric BoerwinkleDepartment of Epidemiology, Human Genetics Center, School of Public Health The University of Texas Health Science Center at Houston Houston TX USA.ORCID 0000-0001-8813-0544
Alanna C MorrisonDepartment of Epidemiology, Human Genetics Center, School of Public Health The University of Texas Health Science Center at Houston Houston TX USA.ORCID 0000-0001-6381-4296
Nathalie ChamiThe Charles Bronfman Institute for Personalized Medicine Icahn School of Medicine at Mount Sinai New York NY USA.ORCID 0000-0002-8547-6424
Ron DoThe Charles Bronfman Institute for Personalized Medicine Icahn School of Medicine at Mount Sinai New York NY USA.ORCID 0000-0002-3144-3627
Ghislain RocheleauThe Charles Bronfman Institute for Personalized Medicine Icahn School of Medicine at Mount Sinai New York NY USA.ORCID 0000-0002-9989-7553
Donald M Lloyd-JonesDepartment of Preventive Medicine Northwestern University Chicago IL USA.ORCID 0000-0003-0847-6110
Rozenn N LemaitreDepartment of Medicine, Cardiovascular Health Research Unit University of Washington Seattle WA USA.ORCID 0000-0002-7038-1844
Joshua C BisDepartment of Medicine, Cardiovascular Health Research Unit University of Washington Seattle WA USA.ORCID 0000-0002-3409-1110
James S FloydDepartment of Medicine, Cardiovascular Health Research Unit University of Washington Seattle WA USA.ORCID 0000-0002-0365-9041
Gregory L KinneyDepartment of Epidemiology Colorado School of Public Health Aurora CO USA.ORCID 0000-0002-5218-4986
Donald W BowdenDepartment of Biochemistry Wake Forest University School of Medicine Winston-Salem NC USA.
Nicholette D PalmerDepartment of Biochemistry Wake Forest University School of Medicine Winston-Salem NC USA.ORCID 0000-0001-8883-2511
Emelia J BenjaminDepartment of Medicine, Cardiovascular Medicine, Boston Medical Center Boston University Chobanian & Avedisian School of Medicine Boston MA USA.ORCID 0000-0003-4076-2336
Matthew NayorDepartment of Medicine, Cardiovascular Medicine Boston University Chobanian & Avedisian School of Medicine Boston MA USA.ORCID 0000-0002-6993-9396
Lisa R YanekDepartment of Medicine Johns Hopkins University School of Medicine Baltimore MD USA.ORCID 0000-0001-7117-1075
Brian G KralDepartment of Medicine Johns Hopkins University School of Medicine Baltimore MD USA.ORCID 0000-0001-9493-2084
Lewis C BeckerDepartment of Medicine Johns Hopkins University School of Medicine Baltimore MD USA.ORCID 0000-0003-4805-3403
Sharon L R KardiaDepartment of Epidemiology University of Michigan School of Public Health Ann Arbor MI USA.ORCID 0000-0002-9853-3379
Jennifer A SmithDepartment of Epidemiology University of Michigan School of Public Health Ann Arbor MI USA.ORCID 0000-0002-3575-5468
Lawrence F BielakDepartment of Epidemiology University of Michigan School of Public Health Ann Arbor MI USA.ORCID 0000-0002-3443-8030
Arnita F NorwoodDepartment of Medicine University of Mississippi Medical Center Jackson MS USA.
Yuan-I MinDepartment of Medicine University of Mississippi Medical Center Jackson MS USA.ORCID 0000-0003-2470-0004
April P CarsonDepartment of Medicine University of Mississippi Medical Center Jackson MS USA.ORCID 0000-0002-7970-6756
Wendy S PostDepartment of Medicine, Division of Cardiology Johns Hopkins University Baltimore MD USA.ORCID 0000-0002-8655-5204
Stephen S RichDepartment of Genome Sciences University of Virginia School of Medicine Charlottesville VA USA.ORCID 0000-0003-3872-7793
David HerringtonDepartment of Medicine Wake Forest University School of Medicine Winston-Salem NC USA.ORCID 0000-0002-7670-6400
Xiuqing GuoDepartment 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 0000-0002-5264-5068
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.ORCID 0000-0002-2756-4370
JoAnn E MansonDepartment of Medicine Brigham and Women's Hospital, Harvard Medical School Boston MA USA.
Nora FranceschiniDepartment of Epidemiology University of North Carolina at Chapel Hill Chapel Hill NC USA.ORCID 0009-0001-8346-3662
Katherine S PollardData Science and Biotechnology, Gladstone Institutes San Francisco CA USA.ORCID 0000-0002-9870-6196
Braxton D MitchellDepartment of Medicine University of Maryland School of Medicine Baltimore MD USA.ORCID 0000-0003-4920-4744
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
Myriam FornageBrown Foundation Institute of Molecular Medicine University of Texas Health Science Center at Houston Houston TX USA.ORCID 0000-0003-0677-8158
Lifang HouDepartment of Preventive Medicine Northwestern University Chicago IL USA.ORCID 0000-0003-4877-0031
Bruce M PsatyDepartment of Medicine, Cardiovascular Health Research Unit University of Washington Seattle WA USA.ORCID 0000-0002-7278-2190
Kendra A YoungDepartment of Epidemiology Colorado School of Public Health Aurora CO USA.
Elizabeth A ReganDivision of Rheumatology National Jewish Health Denver CO USA.ORCID 0000-0003-0624-9184
Barry I FreedmanDepartment of Internal Medicine, Section on Nephrology Wake Forest University School of Medicine Winston-Salem NC USA.ORCID 0000-0003-0275-5530
Ramachandran S VasanUniversity of Texas Health Sciences Center San Antonio TX USA.ORCID 0000-0001-7357-5970
Daniel LevyDivision of Intramural Research, Population Sciences Branch National Heart, Lung, and Blood Institute, National Institutes of Health Bethesda MD USA.ORCID 0000-0003-1843-8724
Rasika A MathiasDepartment of Medicine Johns Hopkins University School of Medicine Baltimore MD USA.ORCID 0000-0002-2282-9042
Patricia A PeyserDepartment of Epidemiology University of Michigan School of Public Health Ann Arbor MI USA.ORCID 0000-0002-9717-8459
Laura M RaffieldDepartment of Genetics University of North Carolina at Chapel Hill Chapel Hill NC USA.ORCID 0000-0002-7892-193X
Charles KooperbergDivision of Public Health Fred Hutchinson Cancer Center Seattle WA USA.ORCID 0000-0002-7986-8560
Alex P ReinerDivision of Public Health Fred Hutchinson Cancer Center Seattle WA USA.ORCID 0000-0002-1427-4470
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
Goo JunDepartment of Epidemiology, Human Genetics Center, School of Public Health The University of Texas Health Science Center at Houston Houston TX USA.ORCID 0000-0003-0891-0204
Paul S de VriesDepartment of Epidemiology, Human Genetics Center, School of Public Health The University of Texas Health Science Center at Houston Houston TX USA.ORCID 0000-0003-0964-0111
Themistocles L AssimesDepartment of Medicine, Division of Cardiovascular Medicine Stanford University School of Medicine Stanford CA USA.ORCID 0000-0003-2349-0009
Funding
CHARGE Consortium: Omics Discovery for CVD and Aging PhenotypesR01HL105756 · NHLBI · UNIVERSITY OF WASHINGTON · PI Bruce M Psaty, NICHOLAS L SMITH · 2011 to 2026
$9.5MWhole-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
$3.9MGenetics of kidney disease in diverse populationsR01DK117445 · NIDDK · UNIV OF NORTH CAROLINA CHAPEL HILL · PI FRANCESCHINI, NORA · 2018 to 2022
$2.7MGenetics of Cardiovascular Disease in Chronic Kidney DiseaseR01HL163972 · NHLBI · UNIV OF NORTH CAROLINA CHAPEL HILL · PI FRANCESCHINI, NORA, LI, YUN · 2022 to 2025
$1.9MMentored Training in Molecular Epidemiology of Chronic Kidney Disease in Diverse PopulationsK26DK138425 · NIDDK · UNIV OF NORTH CAROLINA CHAPEL HILL · PI Nora Franceschini · 2023 to 2026
$277kNHLBI NIH HHS R01 HL105756NHLBI NIH HHS R01 HL146860NHLBI NIH HHS R01 HL163972NIDDK NIH HHS K26 DK138425NIDDK NIH HHS R01 DK117445
Abstract
backgroundGenome-wide association studies have identified several hundred susceptibility single nucleotide variants for coronary artery disease (CAD). Despite single nucleotide variant-based genome-wide association studies improving our understanding of the genetics of CAD, the contribution of structural variants (SVs) to the risk of CAD remains largely unclear. METHOD AND
resultsWe leveraged SVs detected from high-coverage whole genome sequencing data in a diverse group of participants from the National Heart Lung and Blood Institute's Trans-Omics for Precision Medicine program. Single variant tests were performed on 58 706 SVs in a study sample of 11 556 CAD cases and 42 907 controls. Additionally, aggregate tests using sliding windows were performed to examine rare SVs. One genome-wide significant association was identified for a common biallelic intergenic duplication on chromosome 6q21 (
conclusionsOur results suggest that SVs, both common and rare, may influence the risk of coronary artery disease.
Indexed as
Coronary Artery DiseaseGenomic Structural VariationAgedCase-Control StudiesChromosomes, Human, Pair 6FemaleGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansMaleMiddle AgedPhenotypePolymorphism, Single NucleotideRisk FactorsWhole Genome Sequencingassociation testingcoronary artery diseasegeneticsstructural variantswhole‐genome sequencing
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