ArticleNature genetics2023
Genome-wide association study of thoracic aortic aneurysm and dissection in the Million Veteran Program.
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In one paragraph
Article in Nature genetics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 49 papers, 5 of them syntheses that pooled it.
0numbers the graph read from it
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49citing papers in PubMed, 5 pooled it
15.0field-weighted citation impact, top 1% of its field
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.
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.
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Who cites it
49 citing papers in PubMed, 5 syntheses or guidelines pooled it, 56 citations in OpenAlex.
- Genome and Transcriptome-Wide Analyses Identify Multiple Candidate Genes and a Significant Polygenic Contribution in Bicuspid Aortic Valve.Circulation · 2026Pooled it
- Large-scale multi-trait genome-wide analysis for inflammatory bowel disease reveals new insights into its molecular mechanisms and emphasizes the roles of systemic immune regulation.Briefings in bioinformatics · 2025Pooled it
- Integrative Genome-wide Association Meta-analysis of Aortic Aneurysm and Dissection Identifies Five Novel Genes.Genomics, proteomics & bioinformatics · 2025Pooled it
- Dissecting the Genetic Architecture of Intracranial Aneurysms.Circulation. Genomic and precision medicine · 2025Pooled it
- X-linked genetic associations in sporadic thoracic aortic dissection.American journal of medical genetics. Part A · 2024Pooled it
- Gene-Based Rare Variant Burden Analyses Across Biobanks Identify Novel High-Risk Genes for Thoracic Aortic Disease.medRxiv : the preprint server for health sciences · 2026Article
- The aorta in Marfan syndrome: from molecular mechanisms to mechanobiological dysfunction.Cardiovascular research · 2026Review
- Potential association of genetic variants with thoracic aortic aneurysm and dissection: Evidence from a Japanese community-based cohort.General thoracic and cardiovascular surgery · 2026Article
- A D-dimer and ADAMTS8 based multi-marker score for the diagnosis of acute aortic dissection.Scientific reports · 2026Article
- Multi-trait and Gene-Based Analyses Identify Genetic Variants Associated with Spontaneous Coronary Artery Dissection.medRxiv : the preprint server for health sciences · 2026Article
- REPLY: Mendelian Randomization Suggests a Causal Link Between Glycemic Traits and Thoracic Aortic Structures and Diseases.JACC. Basic to translational science · 2026Article
- Comprehensive evaluation of plasma biomarkers in patients with abdominal aortic aneurysm using high-throughput, label-free quantitative proteomic profiling.American journal of physiology. Heart and circulatory physiology · 2026Article
- Targeting modulated vascular smooth muscle cells in atherosclerosis via FAP-directed immunotherapy.Science (New York, N.Y.) · 2026Article
- Integrative cross-tissue transcriptome-wide association and metabolomic analysis reveals novel genetic risk loci for aortic aneurysm.Frontiers in nutrition · 2026Article
- Genetic Causes of Thoracic Aortic Aneurysm: A Review.Methodist DeBakey cardiovascular journal · 2026Review
- Clinically Translatable Mutation-Based Biomarkers in Ascending Aortic Aneurysm: A Bibliometric Study.Human mutation · 2026Article
- The association between reduced hypothalamic subregion volume and aortic aneurysm risk: a Mendelian randomization and multi-omics study with clinical MRI validation.Frontiers in cardiovascular medicine · 2026Article
- Multitrait analyses identify genetic variants associated with aortic valve function and aortic stenosis risk.Nature genetics · 2026Article
- Integrative multi-omics and network biology in cardiovascular disease: a systems-level framework for translational discovery.Frontiers in systems biology · 2026Review
- Mendelian Randomization Suggests a Causal Link Between Glycemic Traits and Thoracic Aortic Structures and Diseases.JACC. Basic to translational science · 2025Article
Corrections and comments
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Authors and funding
37 authors at 14 institutions in 3 countries.
Derek Klarin *Veterans Affairs (VA) Palo Alto Healthcare System, Palo Alto, CA, USA. dklarin@stanford.edu.ORCID 0000-0002-4636-5780
Poornima Devineni *Center for Data and Computational Sciences, VA Boston Healthcare System, Boston, MA, USA.
Anoop K Sendamarai *Center for Data and Computational Sciences, VA Boston Healthcare System, Boston, MA, USA.ORCID 0000-0002-0476-5428
Anthony R AngueiraInstitute for Diabetes, Obesity and Metabolism, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.
Sarah E GrahamDepartment of Internal Medicine, Division of Cardiology, University of Michigan, Ann Arbor, MI, USA.ORCID 0000-0003-1271-2489
Ying H ShenDivision of Cardiothoracic Surgery, Michael E. DeBakey Department of Surgery, Baylor College of Medicine, Houston, TX, USA.
Michael G LevinDivision of Cardiovascular Medicine, Department of Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA.ORCID 0000-0002-9937-9932
James P PirruccelloDivision of Cardiology, University of California San Francisco, San Francisco, CA, USA.ORCID 0000-0001-6088-4037
Ida SurakkaDepartment of Internal Medicine, Division of Cardiology, University of Michigan, Ann Arbor, MI, USA.
Purushotham R KarnamCenter for Data and Computational Sciences, VA Boston Healthcare System, Boston, MA, USA.
Tanmoy RoychowdhuryDepartment of Internal Medicine, Division of Cardiology, University of Michigan, Ann Arbor, MI, USA.
Yanming LiDivision of Cardiothoracic Surgery, Michael E. DeBakey Department of Surgery, Baylor College of Medicine, Houston, TX, USA.ORCID 0000-0002-8213-9166
Minxian WangCAS Key Laboratory of Genome Sciences and Information, Beijing Institute of Genomics, Chinese Academy of Sciences and China National Center for Bioinformation, Beijing, China.ORCID 0000-0002-3753-508X
Krishna G AragamDepartment of Medicine, Harvard Medical School, Boston, MA, USA.ORCID 0000-0003-3223-9131
Kaavya ParuchuriDepartment of Medicine, Harvard Medical School, Boston, MA, USA.ORCID 0000-0003-1228-1674
Verena ZuberDepartment of Epidemiology and Biostatistics, School of Public Health, Imperial College London, London, UK.ORCID 0000-0001-9827-1877
Gabrielle E ShaktDivision of Cardiovascular Medicine, Department of Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA.
Noah L TsaoDivision of Cardiovascular Medicine, Department of Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA.ORCID 0000-0002-5743-0795
Renae L JudyDepartment of Surgery, Perelman School of Medicine, University of Pennsylvania, Philadelphia, USA.
Ha My T VyIcahn School of Medicine at Mount Sinai, New York, NY, USA.
Shefali S VermaDepartment of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.ORCID 0000-0001-5216-4670
Daniel J RaderDivision of Translational Medicine and Human Genetics, Department of Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.ORCID 0000-0002-9245-9876
Ron DoIcahn School of Medicine at Mount Sinai, New York, NY, USA.ORCID 0000-0002-3144-3627
Joseph E BavariaDivision of Cardiovascular Surgery, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Girish N NadkarniIcahn School of Medicine at Mount Sinai, New York, NY, USA.ORCID 0000-0001-6319-4314
Marylyn D RitchieDepartment of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.ORCID 0000-0002-1208-1720
VA Million Veteran Program
Stephen BurgessMedical Research Council Biostatistics Unit, University of Cambridge, Cambridge, UK.ORCID 0000-0001-5365-8760
Dong-Chuan GuoDivision of Medical Genetics, Department of Internal Medicine, McGovern Medical School, University of Texas Health Science Center at Houston, Houston, TX, USA.ORCID 0000-0002-7402-3104
Patrick T EllinorCardiovascular Research Center, Massachusetts General Hospital, Boston, MA, USA.ORCID 0000-0002-2067-0533
Scott A LeMaireDivision of Cardiothoracic Surgery, Michael E. DeBakey Department of Surgery, Baylor College of Medicine, Houston, TX, USA.ORCID 0000-0002-8736-4266
Dianna M MilewiczDivision of Medical Genetics, Department of Internal Medicine, McGovern Medical School, University of Texas Health Science Center at Houston, Houston, TX, USA.ORCID 0000-0002-7806-0068
Cristen J WillerDepartment of Internal Medicine, Division of Cardiology, University of Michigan, Ann Arbor, MI, USA.ORCID 0000-0001-5645-4966
Pradeep NatarajanDepartment of Medicine, Harvard Medical School, Boston, MA, USA.ORCID 0000-0001-8402-7435
Philip S Tsao *Veterans Affairs (VA) Palo Alto Healthcare System, Palo Alto, CA, USA.ORCID 0000-0001-7274-9318
Saiju Pyarajan *Center for Data and Computational Sciences, VA Boston Healthcare System, Boston, MA, USA.ORCID 0000-0002-9047-3762
Scott M Damrauer *Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA. scott.damrauer@pennmedicine.upenn.edu.ORCID 0000-0001-8009-1632
University of Pennsylvania · USBroad Institute · USUniversity of Michigan · USBaylor College of Medicine · USIcahn School of Medicine at Mount Sinai · USHarvard University · USPhiladelphia VA Medical Center · USUniversity of Cambridge · GBVA Boston Healthcare System · USChinese Academy of Sciences · CNUK Dementia Research Institute · GBUniversity of California, San Francisco · USUniversity of Wisconsin–Madison · USVA Palo Alto Health Care System · US
Funding
IDENTIFICATION OF COMMON GENETIC VARIANTS FOR ATRIAL FIBRILLATION AND PR INTERVALR01HL092577 · NHLBI · MASSACHUSETTS GENERAL HOSPITAL · PI BENJAMIN, EMELIA J., ELLINOR, PATRICK THOMAS · 2009 to 2025
$20.6MMULTIDISCIPLINARY RESEARCH TRAINING IN CARDIOLOGYT32HL007208 · NHLBI · MASSACHUSETTS GENERAL HOSPITAL · PI Patrick Thomas Ellinor, David E Sosnovik · 1985 to 2026
$16.1MPolygenic Risk Scores for Diverse Populations - Bridging Research and Clinical CareR01HL151152 · NHLBI · FRED HUTCHINSON CANCER RESEARCH CENTER · PI Christy Leigh Avery, Jennifer Below · 2020 to 2026
$12.3MTraining Program in Cardiovascular Biology and MedicineT32HL007843 · NHLBI · UNIVERSITY OF PENNSYLVANIA · PI THOMAS P. CAPPOLA, Sharlene M Day · 1996 to 2026
$11.0MUsing genetics to discover mechanisms of myocardial infarctionR01HL109946 · NHLBI · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI YUQING Eugene CHEN, Ida Liisa Surakka · 2011 to 2026
$8.9MGenetic Predisposition To Thoracic Aortic Aneurysms/DissectionsR01HL109942 · NHLBI · UNIVERSITY OF TEXAS HLTH SCI CTR HOUSTON · PI MILEWICZ, DIANNA M · 2012 to 2023
$7.5MUsing genetic variation to study biology of blood lipids & coronary heart diseaseR01HL127564 · NHLBI · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI Pradeep Natarajan, Gina Marie Peloso · 2015 to 2026
$7.3MClonal hematopoiesis in humans: determinants of development and progressionR01HL148050 · NHLBI · BAYLOR COLLEGE OF MEDICINE · PI BALLANTYNE, CHRISTIE MITCHELL, NATARAJAN, PRADEEP · 2019 to 2022
$5.9MEnabling improved applicability and transferability of polygenic scores across populationsU01HG011719 · NHGRI · MASSACHUSETTS GENERAL HOSPITAL · PI Alicia Martin · 2021 to 2026
$5.5MWhole genome sequences in individuals to comprehensively characterize the genetic mechanisms of dyslipidemiasR01HL142711 · NHLBI · MASSACHUSETTS GENERAL HOSPITAL · PI Satoshi Koyama, Gina Marie Peloso · 2019 to 2026
$4.7MTowards an integrated map of causal connections for common, complex diseasesR35GM124836 · NIGMS · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI Ron Do · 2017 to 2026
$3.9MElucidating hereditary transthyretin-mediated heart failure risk using machine learning, polygenic risk and recall by genotype approaches in African ancestry individualsR01HL155915 · NHLBI · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI DO, RON, NADKARNI, GIRISH NITIN · 2021 to 2024
$3.4MBLRD VA I01 BX003362BLRD VA IK2 BX005759CSRD VA IK2 CX001780Medical Research Council MC_UU_00002/7Medical Research Council MR/S019669/1Medical Research Council MR/W029790/1NHGRI NIH HHS U01 HG011719NHLBI NIH HHS K08 HL153937NHLBI NIH HHS K08 HL159346NHLBI NIH HHS R01 HL062594NHLBI NIH HHS R01 HL092577NHLBI NIH HHS R01 HL109942NHLBI NIH HHS R01 HL109946NHLBI NIH HHS R01 HL127564NHLBI NIH HHS R01 HL139731NHLBI NIH HHS R01 HL139865NHLBI NIH HHS R01 HL142711NHLBI NIH HHS R01 HL143359NHLBI NIH HHS R01 HL148050NHLBI NIH HHS R01 HL151152NHLBI NIH HHS R01 HL151283NHLBI NIH HHS R01 HL155915NHLBI NIH HHS R01 HL157635NHLBI NIH HHS R01 HL158157NHLBI NIH HHS R01 HL159988NHLBI NIH HHS T32 HL007208NHLBI NIH HHS T32 HL007843NIDDK NIH HHS F30 DK120062NIGMS NIH HHS R35 GM124836NIH HHS S10 OD026880NIH HHS S10 OD030463Wellcome Trust 100114Wellcome Trust 204623/Z/16/Z
Abstract
The current understanding of the genetic determinants of thoracic aortic aneurysms and dissections (TAAD) has largely been informed through studies of rare, Mendelian forms of disease. Here, we conducted a genome-wide association study (GWAS) of TAAD, testing ~25 million DNA sequence variants in 8,626 participants with and 453,043 participants without TAAD in the Million Veteran Program, with replication in an independent sample of 4,459 individuals with and 512,463 without TAAD from six cohorts. We identified 21 TAAD risk loci, 17 of which have not been previously reported. We leverage multiple downstream analytic methods to identify causal TAAD risk genes and cell types and provide human genetic evidence that TAAD is a non-atherosclerotic aortic disorder distinct from other forms of vascular disease. Our results demonstrate that the genetic architecture of TAAD mirrors that of other complex traits and that it is not solely inherited through protein-altering variants of large effect size.
Indexed as
Aortic Aneurysm, ThoracicAortic DissectionVeteransAzidesDeoxyglucoseGenome-Wide Association StudyHumansPedigree1,3,4,6-tetra-O-acetyl-2-azido-2-deoxyglucopyranoseAzidesDeoxyglucose
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