SynthesisCirculation research2017
Meta-Analysis of Genome-Wide Association Studies for Abdominal Aortic Aneurysm Identifies Four New Disease-Specific Risk Loci.
Open access · greenAbstract readMeta-Analysis
In one paragraph
Synthesis in Circulation research, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 128 papers, 9 of them syntheses that pooled it.
0numbers the graph read from it
0cells of the map it votes in
128citing papers in PubMed, 9 pooled it
16.1field-weighted citation impact, top 1% of its field
What it found
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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
128 citing papers in PubMed, 9 syntheses or guidelines pooled it, 221 citations in OpenAlex.
- Integrative Genome-wide Association Meta-analysis of Aortic Aneurysm and Dissection Identifies Five Novel Genes.Genomics, proteomics & bioinformatics · 2025Pooled it
- Integrative bioinformatics frameworks for abdominal aortic aneurysm using GWAS meta-analysis, biological network construction, and structural modeling.Scientific reports · 2025Pooled it
- Genome-wide association meta-analysis identifies risk loci for abdominal aortic aneurysm and highlights PCSK9 as a therapeutic target.Nature genetics · 2023Pooled it
- Genetic and clinical determinants of abdominal aortic diameter: genome-wide association studies, exome array data and Mendelian randomization study.Human molecular genetics · 2022Pooled it
- Shared genetic architecture of hernias: A genome-wide association study with multivariable meta-analysis of multiple hernia phenotypes.PloS one · 2022Pooled it
- Genetic investigation of fibromuscular dysplasia identifies risk loci and shared genetics with common cardiovascular diseases.Nature communications · 2021Pooled it
- Meta-analysis of matrix metalloproteinase (MMP)-9 C1562T polymorphism and susceptibility to ischemic stroke in the Chinese population.The Journal of international medical research · 2020Pooled it
- Replication of Newly Identified Genetic Associations Between Abdominal Aortic Aneurysm and SMYD2, LINC00540, PCIF1/MMP9/ZNF335, and ERG.European journal of vascular and endovascular surgery : the official journal of the European Society for Vascular Surgery · 2020Pooled it
- Genetic Association of Lipids and Lipid Drug Targets With Abdominal Aortic Aneurysm: A Meta-analysis.JAMA cardiology · 2018Pooled it
- Cocktail Therapy Combining SGLT2 Inhibitor, Entresto, and Adipose-Derived Mesenchymal Stem Cells Prevents Abdominal Aortic Aneurysmal Complication Syndrome in Rodents.Acta Cardiologica Sinica · 2026Article
- Performance of Polygenic Risk Scores for Atherosclerotic Cardiovascular Disease in theCirculation. Genomic and precision medicine · 2026Article
- The Role of Furin in Hallmarks of Aneurysms: A Focus On Its Substrates.Current atherosclerosis reports · 2026Review
- ERG preserves endothelial identity to limit atherosclerosis.Nature communications · 2026Article
- Women with Abdominal Aortic Aneurysms Have a Different Pattern of Genetic Variability, Compared to Men.Biomedicines · 2026Article
- Tet2-driven clonal hematopoiesis drives aortic aneurysm via macrophage-to-osteoclast-like differentiation.The Journal of clinical investigation · 2026Article
- Domestic water hardness, genetic susceptibility, and risk of symptomatic abdominal aortic aneurysm: a cohort study of UK biobank.BMC cardiovascular disorders · 2026Article
- Associations of biological ageing and genetic risk with incident abdominal aortic aneurysm.Communications medicine · 2026Article
- Systemic inflammation, polygenic risk score, and risk of incident abdominal aortic aneurysm in the UK biobank.BMC public health · 2025Article
- Epigenomic landscape of single vascular cells reflects developmental origin and disease risk loci.Molecular systems biology · 2025Article
- Genetic Pathogenesis of Abdominal Aortic Aneurysm and the Role of PCSK9 (Proprotein Convertase Subtilisin/Kexin Type 9).Vascular specialist international · 2025Review
68 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
117 authors at 16 institutions in 21 countries.
Gregory T JonesFor the author affiliations, please see the Appendix. m.bown@le.ac.uk greg.jones@otago.ac.nz.
Gerard TrompFor the author affiliations, please see the Appendix.
Helena KuivaniemiFor the author affiliations, please see the Appendix.
Solveig GretarsdottirFor the author affiliations, please see the Appendix.
Annette F BaasFor the author affiliations, please see the Appendix.
Betti GiustiFor the author affiliations, please see the Appendix.
Ewa StraussFor the author affiliations, please see the Appendix.
Femke N G Van't HofFor the author affiliations, please see the Appendix.
Thomas R WebbFor the author affiliations, please see the Appendix.
Robert ErdmanFor the author affiliations, please see the Appendix.
Marylyn D RitchieFor the author affiliations, please see the Appendix.
James R ElmoreFor the author affiliations, please see the Appendix.
Anurag VermaFor the author affiliations, please see the Appendix.
Sarah PendergrassFor the author affiliations, please see the Appendix.
Iftikhar J KulloFor the author affiliations, please see the Appendix.
Zi YeFor the author affiliations, please see the Appendix.
Peggy L PeissigFor the author affiliations, please see the Appendix.
Omri GottesmanFor the author affiliations, please see the Appendix.
Shefali S VermaFor the author affiliations, please see the Appendix.
Jennifer MalinowskiFor the author affiliations, please see the Appendix.
Laura J Rasmussen-TorvikFor the author affiliations, please see the Appendix.
Kenneth M BorthwickFor the author affiliations, please see the Appendix.
Diane T SmelserFor the author affiliations, please see the Appendix.
David R CrosslinFor the author affiliations, please see the Appendix.
Mariza de AndradeFor the author affiliations, please see the Appendix.
Evan J RyerFor the author affiliations, please see the Appendix.
Catherine A McCartyFor the author affiliations, please see the Appendix.
Erwin P BöttingerFor the author affiliations, please see the Appendix.
Jennifer A PachecoFor the author affiliations, please see the Appendix.
Dana C CrawfordFor the author affiliations, please see the Appendix.
David S CarrellFor the author affiliations, please see the Appendix.
Glenn S GerhardFor the author affiliations, please see the Appendix.
David P FranklinFor the author affiliations, please see the Appendix.
David J CareyFor the author affiliations, please see the Appendix.
Victoria L PhillipsFor the author affiliations, please see the Appendix.
Michael J A WilliamsFor the author affiliations, please see the Appendix.
Wenhua WeiFor the author affiliations, please see the Appendix.
Ross BlairFor the author affiliations, please see the Appendix.
Andrew A HillFor the author affiliations, please see the Appendix.
Thodor M VasudevanFor the author affiliations, please see the Appendix.
David R LewisFor the author affiliations, please see the Appendix.
Ian A ThomsonFor the author affiliations, please see the Appendix.
Jo KrysaFor the author affiliations, please see the Appendix.
Geraldine B HillFor the author affiliations, please see the Appendix.
Justin RoakeFor the author affiliations, please see the Appendix.
Tony R MerrimanFor the author affiliations, please see the Appendix.
Grzegorz OszkinisFor the author affiliations, please see the Appendix.
Silvia GaloraFor the author affiliations, please see the Appendix.
Claudia SaraciniFor the author affiliations, please see the Appendix.
Rosanna AbbateFor the author affiliations, please see the Appendix.
Raffaele PulliFor the author affiliations, please see the Appendix.
Carlo PratesiFor the author affiliations, please see the Appendix.
Athanasios SaratzisFor the author affiliations, please see the Appendix.
Ana R VerissimoFor the author affiliations, please see the Appendix.
Suzannah BumpsteadFor the author affiliations, please see the Appendix.
Stephen A BadgerFor the author affiliations, please see the Appendix.
Rachel E CloughFor the author affiliations, please see the Appendix.
Gillian CockerillFor the author affiliations, please see the Appendix.
Hany HafezFor the author affiliations, please see the Appendix.
D Julian A ScottFor the author affiliations, please see the Appendix.
T Simon FutersFor the author affiliations, please see the Appendix.
Simon P R RomaineFor the author affiliations, please see the Appendix.
Katherine BridgeFor the author affiliations, please see the Appendix.
Kathryn J GriffinFor the author affiliations, please see the Appendix.
Marc A BaileyFor the author affiliations, please see the Appendix.
Alberto SmithFor the author affiliations, please see the Appendix.
Matthew M ThompsonFor the author affiliations, please see the Appendix.
Frank M van BockxmeerFor the author affiliations, please see the Appendix.
Stefan E MatthiassonFor the author affiliations, please see the Appendix.
Gudmar ThorleifssonFor the author affiliations, please see the Appendix.
Unnur ThorsteinsdottirFor the author affiliations, please see the Appendix.
Jan D BlankensteijnFor the author affiliations, please see the Appendix.
Joep A W TeijinkFor the author affiliations, please see the Appendix.
Cisca WijmengaFor the author affiliations, please see the Appendix.
Jacqueline de GraafFor the author affiliations, please see the Appendix.
Lambertus A KiemeneyFor the author affiliations, please see the Appendix.
Jes S LindholtFor the author affiliations, please see the Appendix.
Anne HughesFor the author affiliations, please see the Appendix.
Declan T BradleyFor the author affiliations, please see the Appendix.
Kathleen StirrupsFor the author affiliations, please see the Appendix.
Jonathan GolledgeFor the author affiliations, please see the Appendix.
Paul E NormanFor the author affiliations, please see the Appendix.
Janet T PowellFor the author affiliations, please see the Appendix.
Steve E HumphriesFor the author affiliations, please see the Appendix.
Stephen E HambyFor the author affiliations, please see the Appendix.
Alison H GoodallFor the author affiliations, please see the Appendix.
Christopher P NelsonFor the author affiliations, please see the Appendix.
Natzi SakalihasanFor the author affiliations, please see the Appendix.
Audrey CourtoisFor the author affiliations, please see the Appendix.
Robert E FerrellFor the author affiliations, please see the Appendix.
Per ErikssonFor the author affiliations, please see the Appendix.
Lasse FolkersenFor the author affiliations, please see the Appendix.
Anders Franco-CerecedaFor the author affiliations, please see the Appendix.
John D EicherFor the author affiliations, please see the Appendix.
Andrew D JohnsonFor the author affiliations, please see the Appendix.
Christer BetsholtzFor the author affiliations, please see the Appendix.
Arno RuusaleppFor the author affiliations, please see the Appendix.
Oscar FranzénFor the author affiliations, please see the Appendix.
Eric E SchadtFor the author affiliations, please see the Appendix.
Johan L M BjörkegrenFor the author affiliations, please see the Appendix.
Leonard LipovichFor the author affiliations, please see the Appendix.
Anne M DroletFor the author affiliations, please see the Appendix.
Eric L VerhoevenFor the author affiliations, please see the Appendix.
Clark J ZeebregtsFor the author affiliations, please see the Appendix.
Robert H GeelkerkenFor the author affiliations, please see the Appendix.
Marc R van SambeekFor the author affiliations, please see the Appendix.
Steven M van SterkenburgFor the author affiliations, please see the Appendix.
Jean-Paul de VriesFor the author affiliations, please see the Appendix.
Kari StefanssonFor the author affiliations, please see the Appendix.
John R ThompsonFor the author affiliations, please see the Appendix.
Paul I W de BakkerFor the author affiliations, please see the Appendix.
Panos DeloukasFor the author affiliations, please see the Appendix.
Robert D SayersFor the author affiliations, please see the Appendix.
Seamus C HarrisonFor the author affiliations, please see the Appendix.
Andre M van RijFor the author affiliations, please see the Appendix.
Nilesh J SamaniFor the author affiliations, please see the Appendix.
Matthew J BownFor the author affiliations, please see the Appendix. m.bown@le.ac.uk greg.jones@otago.ac.nz.
TiGenix (Spain) · ESApple (Israel) · ILCouncil for Scientific and Industrial Research · ZAGleason (United States) · USBradley University · USChristendom College · USDorset HealthCare University NHS Foundation Trust · GBEricsson (Sweden) · SEGlenn Research Center · USHanseo University · KRPew Research Center · USSan Antonio College · USSt Christopher's Hospice · GBSt. Gregory's University · USThe Aerospace Corporation · USUNESCO · FR
Funding
Northwestern University Clinical and Translational Science Institute (NUCATS)UL1TR001422 · NCATS · NORTHWESTERN UNIVERSITY AT CHICAGO · PI D'AQUILA, RICHARD · 2015 to 2023
$56.8MCardiovascular Genomics and Bioinformatics projectsZIAHL006170 · NHLBI · NATIONAL HEART, LUNG, AND BLOOD INSTITUTE · PI JOHNSON, ANDREW · 2013 to 2025
$25.3MVariation, Function, and Disease Supplement ProgramU01HG008657 · NHGRI · UNIVERSITY OF WASHINGTON · PI David Russell Crosslin, Gail Pairitz Jarvik · 2015 to 2026
$13.4MGeisinger eGenonic Medicine (GeM) ProgramU01HG006382 · NHGRI · GEISINGER CLINIC · PI CAREY, DAVID J., WILLIAMS, MARC S. · 2011 to 2014
$4.3MToward Diagnostics and Therapies of Molecular Subcategories of CADR01HL125863 · NHLBI · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI BJORKEGREN, JOHAN M · 2015 to 2018
$3.2MLife, Death, and Function: The Primate-Specific Long Non-Coding RNA TranscriptomeDP2CA196375 · NCI · WAYNE STATE UNIVERSITY · PI LIPOVICH, LEONARD · 2014 to 2014
$2.3MBritish Heart Foundation FS/11/16/28696British Heart Foundation RG/14/5/30893NCATS NIH HHS UL1 TR001422NCI NIH HHS DP2 CA196375NHGRI NIH HHS U01 HG006382NHGRI NIH HHS U01 HG008657NHLBI NIH HHS R01 HL125863Wellcome Trust 084695
Abstract
rationaleAbdominal aortic aneurysm (AAA) is a complex disease with both genetic and environmental risk factors. Together, 6 previously identified risk loci only explain a small proportion of the heritability of AAA.
objectiveTo identify additional AAA risk loci using data from all available genome-wide association studies. METHODS AND
resultsThrough a meta-analysis of 6 genome-wide association study data sets and a validation study totaling 10 204 cases and 107 766 controls, we identified 4 new AAA risk loci: 1q32.3 (SMYD2), 13q12.11 (LINC00540), 20q13.12 (near PCIF1/MMP9/ZNF335), and 21q22.2 (ERG). In various database searches, we observed no new associations between the lead AAA single nucleotide polymorphisms and coronary artery disease, blood pressure, lipids, or diabetes mellitus. Network analyses identified ERG, IL6R, and LDLR as modifiers of MMP9, with a direct interaction between ERG and MMP9.
conclusionsThe 4 new risk loci for AAA seem to be specific for AAA compared with other cardiovascular diseases and related traits suggesting that traditional cardiovascular risk factor management may only have limited value in preventing the progression of aneurysmal disease.
Indexed as
Aortic Aneurysm, AbdominalGenetic LociGenetic Predisposition to DiseaseGenetic VariationGenome-Wide Association StudyHumansaortic aneurysm, abdominalcomputational biologygeneticsgenome-wide association studymatrix metalloproteinasesmeta-analysis
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