Evidence map›Paper›PMID 32981348›Full record

ArticleCirculation2020

Genetic Architecture of Abdominal Aortic Aneurysm in the Million Veteran Program.

Derek Klarin, Shefali Setia Verma, Renae Judy, Ozan Dikilitas, Brooke N Wolford, Ishan Paranjpe, Michael G Levin, Cuiping Pan, Catherine Tcheandjieu, Joshua M Spin and 44 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Circulation, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 77 papers, 7 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
77citing papers in PubMed, 7 pooled it
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

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.

2 · The registry

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.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

77 citing papers in PubMed, 7 syntheses or guidelines pooled it.

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  4. Dissecting the Genetic Architecture of Intracranial Aneurysms.Circulation. Genomic and precision medicine · 2025
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  10. Abdominal aortic aneurysm progression: A review of preclinical and clinical data.Clinical research in cardiology : official journal of the German Cardiac Society · 2026
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17 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

54 authors.

Derek KlarinMalcolm Randall VA Medical Center, Gainesville, FL (D.K., S.T.S., S.A.B.).
Shefali Setia VermaDepartment of Genetics (S.S.V., M.R.), Perelman School of Medicine, University of Pennsylvania, Philadelphia.
Renae JudyDepartment of Surgery (R.J., S.M.D.), Perelman School of Medicine, University of Pennsylvania, Philadelphia.
Ozan DikilitasDepartment of Cardiovascular Medicine, Mayo Clinic, Rochester, MN (O.D., I.J.K.).
Brooke N WolfordDepartment of Computational Medicine and Bioinformatics (B.N.W., C.W.), University of Michigan Medical School, Ann Arbor.
Ishan ParanjpeDepartment of Medicine, Icahn School of Medicine at Mount Sinai, New York, NY (I.P., G.N.).
Michael G LevinDivision of Cardiovascular Medicine (M.G.L.), Perelman School of Medicine, University of Pennsylvania, Philadelphia.
Cuiping PanPalo Alto Epidemiology Research and Information Center for Genomics (C.P.), CA.
Catherine TcheandjieuVA Palo Alto Health Care System (C.T., J.M.S., T.L.A., P.S.T.), CA.
Joshua M SpinVA Palo Alto Health Care System (C.T., J.M.S., T.L.A., P.S.T.), CA.
Julie LynchEdith Nourse VA Medical Center, Bedford, MA (J.L.).
Themistocles L AssimesVA Palo Alto Health Care System (C.T., J.M.S., T.L.A., P.S.T.), CA.
Linn Åldstedt NyrønningDepartment of Vascular Surgery, St. Olavs Hospital, Trondheim, Norway (L.Å.N., E.M.).
Erney MattssonDepartment of Vascular Surgery, St. Olavs Hospital, Trondheim, Norway (L.Å.N., E.M.).
Todd L EdwardsDivision of Epidemiology, Department of Medicine, Vanderbilt-Ingram Cancer Center (T.L.E.), Vanderbilt University Medical Center, Nashville, TN.
Josh DennyVanderbilt Genetics Institute (T.L.E., J.D.), Vanderbilt University Medical Center, Nashville, TN.
Eric LarsonDepartment of Biomedical Informatics (J.D., E.L., D.C.), Vanderbilt University Medical Center, Nashville, TN.
Ming Ta Michael LeeGenomic Medicine Institute, Geisinger Health System, Danville, PA (M.T.M.L., Y.Z.).
David CarrellDepartment of Biomedical Informatics (J.D., E.L., D.C.), Vanderbilt University Medical Center, Nashville, TN.
Yanfei ZhangGenomic Medicine Institute, Geisinger Health System, Danville, PA (M.T.M.L., Y.Z.).
Gail P JarvikDivision of Medical Genetics, Departments of Medicine and Genome Sciences (G.P.J.), University of Washington, Seattle.
Ali G GharaviDivision of Nephrology and Center for Precision Medicine and Genomics, Columbia University, New York, NY (A.G.G.).
John HarleyCenter for Autoimmune Genomics and Etiology (CAGE), Cincinnati Children's Hospital Medical Center, OH (J.H.).
Frank MentchCenter for Applied Genomics, The Children's Hospital of Philadelphia, PA (F.M., H.H.).
Jennifer A PachecoCenter for Genetic Medicine, Northwestern University Feinberg School of Medicine, Chicago, IL (J.A.P.).
Hakon HakonarsonDepartment of Pediatrics (H.H.), Perelman School of Medicine, University of Pennsylvania, Philadelphia.
Anne Heidi SkogholtFaculty of Medicine and Health Sciences (A.H.S., L.T., M.E.G., K.H., J.B.N.), Norwegian University of Science and Technology, Trondheim, Norway.
Laurent ThomasFaculty of Medicine and Health Sciences (A.H.S., L.T., M.E.G., K.H., J.B.N.), Norwegian University of Science and Technology, Trondheim, Norway.
Maiken Elvestad GabrielsenFaculty of Medicine and Health Sciences (A.H.S., L.T., M.E.G., K.H., J.B.N.), Norwegian University of Science and Technology, Trondheim, Norway.
Kristian HveemFaculty of Medicine and Health Sciences (A.H.S., L.T., M.E.G., K.H., J.B.N.), Norwegian University of Science and Technology, Trondheim, Norway.
Jonas Bille NielsenFaculty of Medicine and Health Sciences (A.H.S., L.T., M.E.G., K.H., J.B.N.), Norwegian University of Science and Technology, Trondheim, Norway.
Wei ZhouCenter for Genomic Medicine (D.K., W.Z., P.N.), Massachusetts General Hospital, Harvard Medical School, Boston.
Lars FritscheDepartment of Biostatistics (L.F.), University of Michigan Medical School, Ann Arbor.
Jie HuangBoston VA Healthcare System, MA (J.H., P.N., K.C., C.J.O.).
Pradeep NatarajanCenter for Genomic Medicine (D.K., W.Z., P.N.), Massachusetts General Hospital, Harvard Medical School, Boston.
Yan V SunDepartment of Epidemiology, Emory University Rollins School of Public Health, Atlanta, GA (Y.V.S.).
Scott L DuVallVA Informatics and Computing Infrastructure, VA Salt Lake City Health Care System, UT (J.L., S.L.D.).
Daniel J RaderDepartment of Medicine (M.G.L., D.J.R., K.-M.C.), Perelman School of Medicine, University of Pennsylvania, Philadelphia.
Kelly ChoBoston VA Healthcare System, MA (J.H., P.N., K.C., C.J.O.).
Kyong-Mi ChangDepartment of Medicine (M.G.L., D.J.R., K.-M.C.), Perelman School of Medicine, University of Pennsylvania, Philadelphia.
Peter W F WilsonAtlanta VA Health Care System, Decatur, GA (Y.V.S., P.W.F.W.).
Christopher J O'DonnellBoston VA Healthcare System, MA (J.H., P.N., K.C., C.J.O.).
Sekar KathiresanVerve Therapeutics, Cambridge, MA (S.K.).
Salvatore T ScaliMalcolm Randall VA Medical Center, Gainesville, FL (D.K., S.T.S., S.A.B.).
Scott A BerceliMalcolm Randall VA Medical Center, Gainesville, FL (D.K., S.T.S., S.A.B.).
Cristen WillerDepartment of Computational Medicine and Bioinformatics (B.N.W., C.W.), University of Michigan Medical School, Ann Arbor.
Gregory T JonesDepartment of Surgical Sciences, Dunedin School of Medicine, University of Otago, New Zealand (G.T.J.).
Matthew J BownDepartment of Cardiovascular Sciences and NIHR Leicester Biomedical Research Centre, University of Leicester, United Kingdom (M.J.B.).
Girish NadkarniDepartment of Medicine, Icahn School of Medicine at Mount Sinai, New York, NY (I.P., G.N.).
Iftikhar J KulloDepartment of Cardiovascular Medicine, Mayo Clinic, Rochester, MN (O.D., I.J.K.).
Marylyn RitchieDepartment of Genetics (S.S.V., M.R.), Perelman School of Medicine, University of Pennsylvania, Philadelphia.
Scott M DamrauerDepartment of Surgery (R.J., S.M.D.), Perelman School of Medicine, University of Pennsylvania, Philadelphia.
Philip S TsaoVA Palo Alto Health Care System (C.T., J.M.S., T.L.A., P.S.T.), CA.
Veterans Affairs Million Veteran Program†

Funding

JH/CIDR Genotyping for Genome-Wide Association StudiesU01HG004438 · NHGRI · JOHNS HOPKINS UNIVERSITY · PI VALLE, DAVID · 2007 to 2011
$24.2M
A Center for GEI Association StudiesU01HG004424 · NHGRI · MASSACHUSETTS INSTITUTE OF TECHNOLOGY · PI GABRIEL, STACEY · 2007 to 2010
$21.4M
Genomic Basis of Susceptibility to COVID-19 Infection and its ComplicationsU01HG006379 · NHGRI · MAYO CLINIC ROCHESTER · PI Richard R. Sharp · 2011 to 2026
$16.5M
University of Michigan Training Program in Genomic ScienceT32HG000040 · NHGRI · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI Sebastian Zoellner · 1995 to 2026
$16.4M
eMERGE Coordinating Center - Administrative SupplementU01HG006385 · NHGRI · VANDERBILT UNIVERSITY · PI HARRIS, PAUL A. · 2011 to 2014
$5.4M
Biorepository for Genomic Medicine in diverse CommunitiesU01HG006380 · NHGRI · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI BOTTINGER, ERWIN P. · 2011 to 2015
$4.5M
Geisinger eGenonic Medicine (GeM) ProgramU01HG006382 · NHGRI · GEISINGER CLINIC · PI CAREY, DAVID J., WILLIAMS, MARC S. · 2011 to 2014
$4.3M
A Personalized Genomic Medicine Pilot Program Using the NJgene eMERGE ExperienceU01HG006388 · NHGRI · NORTHWESTERN UNIVERSITY AT CHICAGO · PI CHISHOLM, REX L, SMITH, MAUREEN E · 2011 to 2014
$4.1M
IRIS: Incorporating Research Into SightU01HG006389 · NHGRI · ESSENTIA INSTITUTE OF RURAL HEALTH · PI MCCARTY, CATHERINE ANNE · 2011 to 2014
$4.1M
Genetic Discovery and Application in a Clinical Setting Continuing a PartnershipU01HG006375 · NHGRI · KAISER FOUNDATION HEALTH PLAN OF WASHINGTON · PI JARVIK, GAIL PAIRITZ, LARSON, ERIC B · 2011 to 2014
$4.1M
Vanderbilt Genome Electronic Records ProjectU01HG006378 · NHGRI · VANDERBILT UNIVERSITY · PI RODEN, DAN M · 2011 to 2014
$4.0M
Integrative Analysis of a GWAS Repository with EMRs from over 40,000 ChildrenU01HG006830 · NHGRI · CHILDREN'S HOSP OF PHILADELPHIA · PI HAKONARSON, HAKON · 2012 to 2014
$3.7M
BLRD VA I01 BX003340BLRD VA I01 BX004821CSRD VA IK2 CX001780NHGRI NIH HHS T32 HG000040NHGRI NIH HHS U01 HG004424NHGRI NIH HHS U01 HG004438NHGRI NIH HHS U01 HG006375NHGRI NIH HHS U01 HG006378NHGRI NIH HHS U01 HG006379NHGRI NIH HHS U01 HG006380NHGRI NIH HHS U01 HG006382NHGRI NIH HHS U01 HG006385NHGRI NIH HHS U01 HG006388NHGRI NIH HHS U01 HG006389NHGRI NIH HHS U01 HG006830
6 · The paper itself

Abstract

backgroundAbdominal aortic aneurysm (AAA) is an important cause of cardiovascular mortality; however, its genetic determinants remain incompletely defined. In total, 10 previously identified risk loci explain a small fraction of AAA heritability.

methodsWe performed a genome-wide association study in the Million Veteran Program testing ≈18 million DNA sequence variants with AAA (7642 cases and 172 172 controls) in veterans of European ancestry with independent replication in up to 4972 cases and 99 858 controls. We then used mendelian randomization to examine the causal effects of blood pressure on AAA. We examined the association of AAA risk variants with aneurysms in the lower extremity, cerebral, and iliac arterial beds, and derived a genome-wide polygenic risk score (PRS) to identify a subset of the population at greater risk for disease.

resultsThrough a genome-wide association study, we identified 14 novel loci, bringing the total number of known significant AAA loci to 24. In our mendelian randomization analysis, we demonstrate that a genetic increase of 10 mm Hg in diastolic blood pressure (odds ratio, 1.43 [95% CI, 1.24-1.66];

conclusionsWe identify novel AAA genetic associations with therapeutic implications and identify a subset of the population at significantly increased genetic risk of AAA independent of family history. Our data suggest that extending current screening guidelines to include testing to identify those with high polygenic AAA risk, once the cost of genotyping becomes comparable with that of screening ultrasound, would significantly increase the yield of current screening at reasonable cost.

Indexed as

Aortic Aneurysm, AbdominalHumansVeteransaneurysmaortic diseasesgenome-wide association studyhumans

Identifiers

PMID32981348
PMCPMC7580856

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.