SynthesisNature genetics2023
Genome-wide association meta-analysis identifies risk loci for abdominal aortic aneurysm and highlights PCSK9 as a therapeutic target.
Open access · hybridAbstract readMeta-Analysis
In one paragraph
Synthesis in Nature genetics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 80 papers, 4 of them syntheses that pooled it.
0numbers the graph read from it
0cells of the map it votes in
80citing papers in PubMed, 4 pooled it
22.2field-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
80 citing papers in PubMed, 4 syntheses or guidelines pooled it, 86 citations in OpenAlex.
- Genomic and transcriptomic analyses of aortic stenosis enhance therapeutic target discovery and disease prediction.Nature genetics · 2026Pooled it
- Integrative Genome-wide Association Meta-analysis of Aortic Aneurysm and Dissection Identifies Five Novel Genes.Genomics, proteomics & bioinformatics · 2025Pooled it
- Cross-population GWAS and proteomics improve risk prediction and reveal mechanisms in atrial fibrillation.Nature communications · 2025Pooled it
- Integrative bioinformatics frameworks for abdominal aortic aneurysm using GWAS meta-analysis, biological network construction, and structural modeling.Scientific reports · 2025Pooled it
- Epigenome-Wide Association Study of Abdominal Aortic Aneurysm Identifies Central Role for Inflammatory Pathways.Circulation · 2026Article
- Integrating Genetics With Epidemiological Measurements Identifies Burden QTLs of Inflammatory Bowel Disease across 20 Countries.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026Article
- Cross-Omics Identification and Validation of PCSK9 as a Candidate Molecule Associated with Aortic Dissection and Negative Remodeling After TEVAR.Journal of cardiovascular development and disease · 2026Article
- Evidence of a Protective Effect of Metformin on Abdominal Aortic Aneurysm Risk: Insights From an Observational Study and Mendelian Randomisation Analysis Using Putative Metformin Targets.Annals of human genetics · 2026 · on this mapObservational
- Performance of Polygenic Risk Scores for Atherosclerotic Cardiovascular Disease in theCirculation. Genomic and precision medicine · 2026Article
- Abdominal aortic aneurysm progression: A review of preclinical and clinical data.Clinical research in cardiology : official journal of the German Cardiac Society · 2026Review
- Social Isolation, Genetic Susceptibility, Systemic Inflammation and Risk of Abdominal Aortic Aneurysm: A UK Biobank Cohort Study.Healthcare (Basel, Switzerland) · 2026Article
- The Role of Furin in Hallmarks of Aneurysms: A Focus On Its Substrates.Current atherosclerosis reports · 2026Review
- Calcium signaling pathway implicates a shared genetic basis between psychiatric and cardiovascular diseases.Translational psychiatry · 2026Article
- Integrative statistical genetics prioritizes candidate ASCVD susceptibility genes across tissues.Molecular medicine (Cambridge, Mass.) · 2026Article
- Cross-ancestry pleiotropic analysis of imaging-derived phenotypes enhances risk stratification of depression.Molecular psychiatry · 2026Article
- Precision medicine for atherosclerotic cardiovascular disease: Integrative genomics maps risk loci and AI-predicted functional consequences.Clinical and translational medicine · 2026Article
- Proteomics reveals spatial and molecular heterogeneities in advanced atherosclerotic carotid artery plaques.Nature cardiovascular research · 2026Article
- TCF7L2 promotes abdominal aortic aneurysm through smooth muscle cell-mediated extracellular matrix remodeling.JCI insight · 2026Article
- Integrating gene-microbiome interactions and single-cell transcriptomics reveals therapeutic strategies for aortic aneurysm.iScience · 2026Article
- Targeting PCSK9 in Vascular Smooth Muscle Cells: An Effective Strategy to Suppress Ferroptosis and Attenuate Abdominal Aortic Aneurysm Progression.Cell proliferation · 2026Article
20 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
97 authors at 20 institutions in 10 countries.
Tanmoy Roychowdhury *Department of Internal Medicine, Division of Cardiology, University of Michigan, Ann Arbor, MI, USA. tanmoy63@gmail.com.ORCID 0000-0002-1187-1720
Derek Klarin *Department of Surgery, Stanford University School of Medicine, Stanford, CA, USA.ORCID 0000-0002-4636-5780
Michael G Levin *Division of Cardiovascular Medicine, Department of Medicine, University of Pennsylvania, Perelman School of Medicine, Philadelphia, PA, USA.ORCID 0000-0002-9937-9932
Joshua M SpinVA Palo Alto Healthcare System, Palo Alto, CA, USA.ORCID 0000-0002-4256-9161
Yae Hyun RheeVA Palo Alto Healthcare System, Palo Alto, CA, USA.
Alicia DengVA Palo Alto Healthcare System, Palo Alto, CA, USA.
Colwyn A HeadleyVA Palo Alto Healthcare System, Palo Alto, CA, USA.ORCID 0000-0001-6041-7615
Noah L TsaoDepartment of Surgery, University of Pennsylvania, Perelman School of Medicine, Philadelphia, PA, USA.ORCID 0000-0002-5743-0795
Corry GellatlyDepartment of Cardiovascular Sciences and NIHR Leicester Biomedical Research Centre, University of Leicester, Leicester, UK.ORCID 0000-0001-7458-2988
Verena ZuberDepartment of Epidemiology and Biostatistics, School of Public Health, Imperial College London, London, UK.ORCID 0000-0001-9827-1877
Fred ShenUniversity of Michigan Medical Scientist Training Program, University of Michigan, Ann Arbor, MI, USA.
Whitney E HornsbyDepartment of Internal Medicine, Division of Cardiology, University of Michigan, Ann Arbor, MI, USA.
Ina Holst LaursenDepartment of Clinical Immunology, Copenhagen University Hospital-Rigshospitalet, Copenhagen, Denmark.ORCID 0000-0002-9534-8581
Shefali S VermaDepartment of Pathology and Laboratory Medicine, Perelman School of Medicine, Philadelphia, PA, USA.ORCID 0000-0001-5216-4670
Adam E LockeRegeneron Genetics Center, LLC, Tarrytown, NY, USA.ORCID 0000-0001-6227-198X
Gudmundur EinarssondeCODE genetics/Amgen Inc., Reykjavik, Iceland.ORCID 0000-0002-1326-2339
Gudmar ThorleifssondeCODE genetics/Amgen Inc., Reykjavik, Iceland.ORCID 0000-0003-4623-9087
Sarah E GrahamDepartment of Internal Medicine, Division of Cardiology, University of Michigan, Ann Arbor, MI, USA.ORCID 0000-0003-1271-2489
Ozan DikilitasDepartment of Internal Medicine, Mayo Clinic Rochester, Rochester, MN, USA.ORCID 0000-0002-9906-8608
Jack W PatteeUniversity of Minnesota, Minneapolis, MN, USA.
Renae L JudyDepartment of Surgery, University of Pennsylvania, Perelman School of Medicine, Philadelphia, PA, USA.
Ferran Pauls-VergesUnit of Genomics of Complex Diseases, Sant Pau Biomedical Research Institute (IIB Sant Pau), Barcelona, Spain.
Jonas B NielsenDepartment of Internal Medicine, Division of Cardiology, University of Michigan, Ann Arbor, MI, USA.
Brooke N WolfordDepartment of Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, MI, USA.ORCID 0000-0003-3153-1552
Ben M BrumptonHUNT Research Centre, Department of Public Health and Nursing, NTNU, Norwegian University of Science and Technology, Levanger, Norway.ORCID 0000-0002-3058-1059
Jaume DilméDepartment of Vascular and Endovascular Surgery, Hospital de la Santa Creu i Sant Pau, Universitat Autonoma de Barcelona, Barcelona, Spain.ORCID 0000-0003-0127-0064
Olga PeypochUnit of Genomics of Complex Diseases, Sant Pau Biomedical Research Institute (IIB Sant Pau), Barcelona, Spain.ORCID 0000-0002-9795-5553
Laura Calsina JuscafresaVascular Surgery Department, Parc de Salut Mar-Hospital del Mar, Barcelona, Spain.ORCID 0000-0002-8140-7800
Todd L EdwardsDivision of Epidemiology, Department of Medicine, Vanderbilt Genetics Institute, Vanderbilt University Medical Center, Nashville, TN, USA.
Dadong LiRegeneron Genetics Center, LLC, Tarrytown, NY, USA.ORCID 0000-0003-0868-4884
Karina BanasikNovo Nordisk Foundation Center for Protein Research, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.ORCID 0000-0003-2489-2499
Søren BrunakNovo Nordisk Foundation Center for Protein Research, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.ORCID 0000-0003-0316-5866
Rikke L JacobsenDepartment of Clinical Immunology, Copenhagen University Hospital-Rigshospitalet, Copenhagen, Denmark.ORCID 0000-0002-7988-7964
Minerva T Garcia-BarrioDepartment of Internal Medicine, Division of Cardiology, University of Michigan, Ann Arbor, MI, USA.
Jifeng ZhangDepartment of Internal Medicine, Division of Cardiology, University of Michigan, Ann Arbor, MI, USA.
Lars M RasmussenDepartment of Clinical Biochemistry, Odense University Hospital, Elite Research Centre of Individualized Medicine in Arterial Disease (CIMA), Odense, Denmark.
Regent LeeNuffield Department of Surgical Sciences, University of Oxford, Oxford, UK.
Ashok HandaNuffield Department of Surgical Sciences, University of Oxford, Oxford, UK.
Anders WanhainenDepartment of Surgical Sciences, Vascular Surgery, Uppsala University, Uppsala, Sweden.
Kevin ManiDepartment of Surgical Sciences, Vascular Surgery, Uppsala University, Uppsala, Sweden.
Jes S LindholtDepartment of Cardiothoracic and Vascular Surgery, Odense University Hospital, Elite Research Centre of Individualized Medicine in Arterial Disease (CIMA), Odense, Denmark.
Lasse M ObelDepartment of Cardiothoracic and Vascular Surgery, Odense University Hospital, Elite Research Centre of Individualized Medicine in Arterial Disease (CIMA), Odense, Denmark.ORCID 0000-0003-0037-8962
Ewa StraussInstitute of Human Genetics, Polish Academy of Sciences, Poznan, Poland.ORCID 0000-0001-8275-3126
Grzegorz OszkinisDepartment of General and Vascular Surgery, Poznan University of Medical Sciences, Poznan, Poland.
Christopher P NelsonDepartment of Cardiovascular Sciences and NIHR Leicester Biomedical Research Centre, University of Leicester, Leicester, UK.
Katie L SaxbyDepartment of Cardiovascular Sciences and NIHR Leicester Biomedical Research Centre, University of Leicester, Leicester, UK.ORCID 0000-0002-8183-7659
Joost A van HerwaardenDepartment of Vascular Surgery, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.ORCID 0000-0003-1165-5179
Sander W van der LaanCentral Diagnostics Laboratory, Division Laboratories, Pharmacy, and Biomedical genetics, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.ORCID 0000-0001-6888-1404
Jessica van SettenDepartment of Cardiology, Division Heart and Lungs, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.
Mercedes CamachoUnit of Genomics of Complex Diseases, Sant Pau Biomedical Research Institute (IIB Sant Pau), Barcelona, Spain.ORCID 0000-0001-5970-3294
Frank M DavisDepartment of Surgery, University of Michigan, Ann Arbor, MI, USA.
Rachael WasikowskiDepartment of Dermatology, University of Michigan Medical School, Ann Arbor, MI, USA.
Lam C TsoiDepartment of Dermatology, University of Michigan Medical School, Ann Arbor, MI, USA.
Johann E GudjonssonDepartment of Dermatology, University of Michigan Medical School, Ann Arbor, MI, USA.
Jonathan L EliasonDepartment of Surgery, Section of Vascular Surgery, University of Michigan, Ann Arbor, MI, USA.
Dawn M ColemanDepartment of Surgery, Section of Vascular Surgery, University of Michigan, Ann Arbor, MI, USA.
Peter K HenkeDepartment of Surgery, Section of Vascular Surgery, University of Michigan, Ann Arbor, MI, USA.ORCID 0000-0002-6544-4927
Santhi K GaneshDepartment of Internal Medicine, Division of Cardiology, University of Michigan, Ann Arbor, MI, USA.ORCID 0000-0002-3663-5249
Y Eugene ChenDepartment of Internal Medicine, Division of Cardiology, University of Michigan, Ann Arbor, MI, USA.
Weihua GuanDivision of Biostatistics, School of Public Health, University of Minnesota, Minneapolis, MN, USA.
James S PankowDivision of Epidemiology and Community Health, School of Public Health, University of Minnesota, Minneapolis, MN, USA.ORCID 0000-0001-7076-483X
Nathan PankratzDepartment of Laboratory Medicine and Pathology, School of Medicine, University of Minnesota, Minneapolis, MN, USA.ORCID 0000-0001-5958-693X
Ole B PedersenDepartment of Clinical Immunology, Zealand University Hospital-Køge, Køge, Denmark.ORCID 0000-0003-2312-5976
Christian ErikstrupDepartment of Clinical Immunology, Aarhus University Hospital, Aarhus, Denmark.ORCID 0000-0001-6551-6647
Weihong TangDivision of Epidemiology and Community Health, School of Public Health, University of Minnesota, Minneapolis, MN, USA.
Kristian HveemHUNT Research Centre, Department of Public Health and Nursing, NTNU, Norwegian University of Science and Technology, Levanger, Norway.
Daniel GudbjartssondeCODE genetics/Amgen Inc., Reykjavik, Iceland.ORCID 0000-0002-5222-9857
Solveig GretarsdottirdeCODE genetics/Amgen Inc., Reykjavik, Iceland.ORCID 0000-0002-2616-7269
Unnur ThorsteinsdottirdeCODE genetics/Amgen Inc., Reykjavik, Iceland.
Hilma HolmdeCODE genetics/Amgen Inc., Reykjavik, Iceland.ORCID 0000-0002-9517-6636
Kari StefanssondeCODE genetics/Amgen Inc., Reykjavik, Iceland.ORCID 0000-0003-1676-864X
Manuel A FerreiraRegeneron Genetics Center, LLC, Tarrytown, NY, USA.ORCID 0000-0001-9059-1825
Aris BarasRegeneron Genetics Center, LLC, Tarrytown, NY, USA.ORCID 0000-0002-6830-3396
Iftikhar J KulloDepartment of Cardiovascular Medicine and the Gonda Vascular Center, Mayo Clinic Rochester, Rochester, MN, USA.ORCID 0000-0002-6524-3471
Marylyn D RitchieDepartment of Genetics, University of Pennsylvania, Perelman School of Medicine, Philadelphia, PA, USA.ORCID 0000-0002-1208-1720
Alex H ChristensenDepartment of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.
Kasper K IversenDepartment of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.
Nikolaj EldrupDepartment of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.
Henrik SillesenDepartment of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.
Sisse R OstrowskiDepartment of Clinical Immunology, Copenhagen University Hospital-Rigshospitalet, Copenhagen, Denmark.ORCID 0000-0001-5288-3851
Henning BundgaardDepartment of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.
Henrik UllumStatens Serum Institut, Copenhagen, Denmark.
Stephen BurgessMRC Biostatistics Unit, School of Clinical Medicine, University of Cambridge, Cambridge, UK.ORCID 0000-0001-5365-8760
Dipender GillDepartment of Epidemiology and Biostatistics, School of Public Health, Imperial College London, London, UK.ORCID 0000-0001-7312-7078
Katherine GallagherDepartment of Surgery, University of Michigan, Ann Arbor, MI, USA.
Maria Sabater-LlealUnit of Genomics of Complex Diseases, Sant Pau Biomedical Research Institute (IIB Sant Pau), Barcelona, Spain.ORCID 0000-0002-0128-379X
DiscovEHR
Regeneron Genetics Center
UK Aneurysm Growth Study
DBDS Genomic Consortium
VA Million Veteran Program
Ida SurakkaDepartment of Internal Medicine, Division of Cardiology, University of Michigan, Ann Arbor, MI, USA.
Gregory T JonesDepartment of Surgical Sciences, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand.ORCID 0000-0002-6950-4210
Matthew J BownDepartment of Cardiovascular Sciences and NIHR Leicester Biomedical Research Centre, University of Leicester, Leicester, UK.ORCID 0000-0002-6180-3611
Philip S TsaoVA Palo Alto Healthcare System, Palo Alto, CA, USA.ORCID 0000-0001-7274-9318
Cristen J WillerDepartment of Internal Medicine, Division of Cardiology, University of Michigan, Ann Arbor, MI, USA. cristen@umich.edu.ORCID 0000-0001-5645-4966
Scott M DamrauerDepartment of Surgery, Corporal Michael Crescenz VA Medical Center, Philadelphia, PA, USA. damrauer@upenn.edu.ORCID 0000-0001-8009-1632
University of Michigan · USUniversity of Copenhagen · DKUniversity of Leicester · GBdeCODE Genetics (Iceland) · ISVA Palo Alto Health Care System · USUniversity of Minnesota · USNorwegian University of Science and Technology · NORegeneron (United States) · USUniversity of Pennsylvania · USHospital de Sant Pau · ESOdense University Hospital · DKUtrecht University · NLCopenhagen University Hospital · DKMayo Clinic · USPoznan University of Medical Sciences · PLUniversitat Autònoma de Barcelona · ESUniversity of Oxford · GBUppsala University · SEAarhus University Hospital · DKNovo Nordisk (Denmark) · DK
Funding
Genomic Basis of Susceptibility to COVID-19 Infection and its ComplicationsU01HG006379 · NHGRI · MAYO CLINIC ROCHESTER · PI Richard R. Sharp · 2011 to 2026
$16.5MEpidemiology of Venous Thrombosis & Pulmonary EmbolismR01HL059367 · NHLBI · UNIVERSITY OF MINNESOTA TWIN CITIES · PI TANG, WEIHONG · 1998 to 2024
$11.8MTraining 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
$8.9MT32 Training Program in Mechanisms and Innovation in Vascular DiseaseT32HL098049 · NHLBI · STANFORD UNIVERSITY · PI Nicholas James Leeper, Philip S Tsao · 2010 to 2026
$6.3MUsing Genetics to Inform Mechanism of Cardiovascular DiseaseR35HL135824 · NHLBI · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI WILLER, CRISTEN J · 2017 to 2022
$5.4MGenomic and Functional Studies of Dysplasia-Associated Arterial DiseasesR35HL161016 · NHLBI · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI SANTHI K GANESH · 2022 to 2026
$4.6MPolygenic Risk of Disease in Populations of Diverse AncestryU01HG011710 · NHGRI · MAYO CLINIC ROCHESTER · PI SCHAID, DANIEL J. · 2021 to 2025
$3.2MIdentifying Proteomics Risk Markers for Abdominal Aortic AneurysmR01HL155209 · NHLBI · UNIVERSITY OF MINNESOTA · PI TANG, WEIHONG · 2021 to 2024
$3.1MImpact of PCSK9 inhibition on abdominal aortic aneurysm pathobiology and growthR01HL166991 · NHLBI · UNIVERSITY OF PENNSYLVANIA · PI Scott Michael Damrauer · 2023 to 2026
$2.6MIdentifying Epidemiological Risk Factors for Abdominal Aortic AneurysmR01HL103695 · NHLBI · UNIVERSITY OF MINNESOTA · PI TANG, WEIHONG · 2011 to 2014
$2.3MIntegrative analysis to uncover biology of blood lipids & coronary heart diseaseR01HL142023 · NHLBI · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI WILLER, CRISTEN J, ZHOU, XIANG · 2018 to 2019
$859kBLRD VA I01 BX003362BLRD VA I01 BX005831BLRD VA IK2 BX005759British Heart Foundation CH/F/22/90014CSRD VA IK2 CX001780Medical Research Council MC_UU_00002/7Medical Research Council MR/S019669/1Medical Research Council MR/W029790/1NHGRI NIH HHS U01 HG006379NHGRI NIH HHS U01 HG011710NHLBI NIH HHS K24 HL137010NHLBI NIH HHS R01 HL059367NHLBI NIH HHS R01 HL103695NHLBI NIH HHS R01 HL109946NHLBI NIH HHS R01 HL142023NHLBI NIH HHS R01 HL155209NHLBI NIH HHS R01 HL166991NHLBI NIH HHS R35 HL135824NHLBI NIH HHS R35 HL161016NHLBI NIH HHS T32 HL007843NHLBI NIH HHS T32 HL098049Wellcome Trust
Abstract
Abdominal aortic aneurysm (AAA) is a common disease with substantial heritability. In this study, we performed a genome-wide association meta-analysis from 14 discovery cohorts and uncovered 141 independent associations, including 97 previously unreported loci. A polygenic risk score derived from meta-analysis explained AAA risk beyond clinical risk factors. Genes at AAA risk loci indicate involvement of lipid metabolism, vascular development and remodeling, extracellular matrix dysregulation and inflammation as key mechanisms in AAA pathogenesis. These genes also indicate overlap between the development of AAA and other monogenic aortopathies, particularly via transforming growth factor β signaling. Motivated by the strong evidence for the role of lipid metabolism in AAA, we used Mendelian randomization to establish the central role of nonhigh-density lipoprotein cholesterol in AAA and identified the opportunity for repurposing of proprotein convertase, subtilisin/kexin-type 9 (PCSK9) inhibitors. This was supported by a study demonstrating that PCSK9 loss of function prevented the development of AAA in a preclinical mouse model.
Indexed as
Aortic Aneurysm, AbdominalGenome-Wide Association StudyAnimalsHumansMiceProprotein Convertase 9Proprotein ConvertasesSubtilisinPCSK9 protein, humanProprotein Convertase 9Proprotein ConvertasesSubtilisin
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