Evidence map›Paper›PMID 27418160›Full record

ArticleJournal of the American Heart Association2016

Shared Genetic Risk Factors of Intracranial, Abdominal, and Thoracic Aneurysms.

Femke N G van 't Hof, Ynte M Ruigrok, Cue Hyunkyu Lee, Stephan Ripke, Graig Anderson, Mariza de Andrade, Annette F Baas, Jan D Blankensteijn, Erwin P Böttinger, Matthew J Bown and 61 more

Erratum issued Registry-linked trialOpen access · goldAbstract read
In one paragraph

Article in Journal of the American Heart Association, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. It is linked to trial NCT05526352 (@neurIST), which is not on this map. Cited by 35 papers, 3 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
35citing papers in PubMed, 3 pooled it
5.1field-weighted citation impact, top 4% of its field
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.

NCT05526352 recruitingnot on this map

@neurIST : Informatique biomédicale intégrée Pour la Gestion Des anévrismes cérébraux

Typeobservational_patient_registrySponsorUniversity Hospital, GenevaRan2015 to 2040Enrolled20,000ConditionsIntracranial Aneurysm
3 · Its place in the literature

Who cites it

35 citing papers in PubMed, 3 syntheses or guidelines pooled it, 70 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
  3. Pooled it
  4. Article
  5. Article
  6. Family history as the strongest predictor of aortic and peripheral aneurysms in patients with intracranial aneurysms.Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia · 2024
    Article
  7. Review
  8. Article
  9. Article
  10. Article
  11. Genetics and mechanisms of thoracic aortic disease.Nature reviews. Cardiology · 2023
    Review
  12. Article
  13. Article
  14. Article
  15. Article
  16. Article
  17. Review
  18. Article
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4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

71 authors at 20 institutions in 15 countries.

Femke N G van 't HofUtrecht Stroke Center, Department of Neurology and Neurosurgery, Rudolf Magnus Institute of Neuroscience, University Medical Center Utrecht, Utrecht, The Netherlands.
Ynte M RuigrokUtrecht Stroke Center, Department of Neurology and Neurosurgery, Rudolf Magnus Institute of Neuroscience, University Medical Center Utrecht, Utrecht, The Netherlands.
Cue Hyunkyu LeeDepartment of Convergence Medicine, University of Ulsan College of Medicine and Asan Institute for Life Sciences Asan Medical Center, Seoul, Korea Department of Neurosurgery, Helsinki University Central Hospital, Helsinki, Finland.
Stephan RipkeAnalytic and Translational Genetics Unit, Massachusetts General Hospital and Harvard Medical School, Boston, MA Department of Psychiatry and Psychotherapy, Charité, Universitätsmedizin Berlin, Berlin, Germany.
Graig AndersonThe George Institute for International Health, University of Sydney, Australia.
Mariza de AndradeMayo Clinic, Rochester, NY.
Annette F BaasDepartment of Medical Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, The Netherlands.
Jan D BlankensteijnDepartment of Vascular Surgery, VU Medical Center, Amsterdam, The Netherlands.
Erwin P BöttingerIcahn School of Medicine Mount Sinai, The Charles Bronfman Institute for Personalized Medicine, New York, NY.
Matthew J BownDepartment of Cardiovascular Sciences and the NIHR Leicester Cardiovascular Biomedical Research Unit, University of Leicester, United Kingdom.
Joseph BroderickDepartment of Neurology, University of Cincinnati School of Medicine, Cincinnati, OH.
Philippe BijlengaHôpitaux Universitaire de Genève et Faculté de médecine de Genève, Geneva, Switzerland.
David S CarrellGroup Health Research Institute, Seattle, WA.
Dana C CrawfordDepartment of Epidemiology and Biostatistics, Institute for Computational Biology, Case Western Reserve University, Cleveland, OH Center for Human Genetics Research, Vanderbilt University, Nashville, TN.
David R CrosslinDivision of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA.
Christian EbelingFraunhofer Institut Algorithmen und Wissenschaftliches Rechnen, Sankt Augustin, Germany.
Johan G ErikssonDepartment of Chronic Disease Prevention, National Institute for Health and Welfare, Helsinki, Finland Folkhälsan Research Center, Helsinki, Finland Department of General Practice and Primary Health Care, and Helsinki University Hospital, University of Helsinki, Finland.
Myriam FornageHuman Genetics Center and Institute of Molecular Medicine, University of Texas Health Science Center, Houston, TX.
Tatiana ForoudDepartment of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN.
Mikael von Und Zu FraunbergNeurosurgery of NeuroCenter, Kuopio University Hospital, Kuopio, Finland.
Christoph M FriedrichDepartment of Computer Science, University of Applied Science and Arts, Dortmund, Germany.
Emília I GaálInstitute for Molecular Medicine Finland (FIMM), University of Helsinki, Finland Public Health Genomics Unit, Department of Chronic Disease Prevention, National Institute for Health and Welfare, Helsinki, Finland Department of Neurosurgery, Helsinki University Central Hospital, Helsinki, Finland.
Omri GottesmanIcahn School of Medicine Mount Sinai, The Charles Bronfman Institute for Personalized Medicine, New York, NY.
Dong-Chuan GuoDepartment of Internal Medicine, The University of Texas Medical School at Houston, TX.
Seamus C HarrisonDepartment of Cardiovascular Science, University of Leicester, United Kingdom.
Juha HernesniemiDepartment of Neurosurgery, Helsinki University Central Hospital, Helsinki, Finland.
Albert HofmanDepartment of Epidemiology, Erasmus Medical Center, Rotterdam, The Netherlands.
Ituro InoueDivision of Human Genetics, National Institute of Genetics, Mishima, Japan.
Juha E JääskeläinenNeurosurgery of NeuroCenter, Kuopio University Hospital, Kuopio, Finland.
Gregory T JonesSurgery Department, University of Otago, Dunedin, New Zealand.
Lambertus A L M KiemeneyRadboud University Medical Center, Radboud Institute for Health Sciences, Nijmegen, The Netherlands.
Riku KivisaariDepartment of Neurosurgery, Helsinki University Central Hospital, Helsinki, Finland.
Nerissa KoDepartment of Neurology, University of California, San Francisco, CA.
Seppo KoskinenDepartment of Health, Functional Capacity and Welfare, National Institute for Health and Welfare, Helsinki, Finland.
Michiaki KuboCenter for Integrative Medical Sciences, RIKEN, Kanagawa, Japan.
Iftikhar J KulloMayo Clinic, Rochester, NY.
Helena KuivaniemiRadboud University Medical Center, Radboud Institute for Health Sciences, Nijmegen, The Netherlands The Sigfried and Janet Weis Center for Research, Geisinger Health System, Danville, PA Department of Surgery, Temple University School of Medicine, Philadelphia, PA Department of Biomedical Sciences, Stellenbosch University, Tygerberg, South Africa.
Mitja I KurkiNeurosurgery of NeuroCenter, Kuopio University Hospital, Kuopio, Finland Center for Human Genetics Research, Massachusetts General Hospital, Boston, MA Medical and Population Genetics Program, Broad Institute, Boston, MA.
Aki LaaksoPublic Health Genomics Unit, Department of Chronic Disease Prevention, National Institute for Health and Welfare, Helsinki, Finland.
Dongbing LaiDepartment of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN.
Suzanne M LealCenter for Statistical Genetics, Baylor College of Medicine, Houston, TX.
Hanna LehtoDepartment of Neurosurgery, Helsinki University Central Hospital, Helsinki, Finland.
Scott A LeMaireMichael E. DeBakey Department of Surgery, Baylor College of Medicine and the Texas Heart Institute, Houston, TX.
Siew-Kee LowCenter for Integrative Medical Sciences, RIKEN, Kanagawa, Japan.
Jennifer MalinowskiCenter for Human Genetics Research, Vanderbilt University, Nashville, TN Department of Surgery, Yale School of Medicine, New Haven, CT.
Catherine A McCartyResearch Division, Essentia Institute of Rural Health, Duluth, MN.
Dianna M MilewiczDepartment of Internal Medicine, The University of Texas Medical School at Houston, TX.
Thomas H MosleyDepartment of Medicine, University of Mississippi Medical Center, Jackson, MS.
Yusuke NakamuraSection of Hematology and Oncology, Department of Medicine, University of Chicago, IL.
Hirofumi NakaokaDivision of Human Genetics, National Institute of Genetics, Mishima, Japan.
Mika NiemeläDepartment of Neurosurgery, Helsinki University Central Hospital, Helsinki, Finland.
Jennifer PachecoCenter for Genetic Medicine, Northwestern University Feinberg School of Medicine, Chicago, IL.
Peggy L PeissigCenter for Human Genetics, Marshfield Clinic Research Foundation, Marshfield, WI.
Joanna PeraDepartment of Neurology, Jagiellonian University, Krakow, Poland.
Laura Rasmussen-TorvikDepartment of Preventive Medicine, Northwestern University Feinberg School of Medicine, Chicago, IL.
Marylyn D RitchieCenter for Systems Genomics, The Pennsylvania State University, Pennsylvania, PA.
Fernando RivadeneiraDepartment of Internal Medicine, Erasmus Medical Center, Rotterdam, The Netherlands.
Andre M van RijSurgery Department, University of Otago, Dunedin, New Zealand.
Regie Lyn P Santos-CortezCenter for Statistical Genetics, Baylor College of Medicine, Houston, TX.
Athanasios SaratzisDepartment of Cardiovascular Sciences and the NIHR Leicester Cardiovascular Biomedical Research Unit, University of Leicester, United Kingdom.
Agnieszka SlowikDepartment of Neurology, Jagiellonian University, Krakow, Poland.
Atsushi TakahashiCenter for Integrative Medical Sciences, RIKEN, Kanagawa, Japan.
Gerard TrompThe Sigfried and Janet Weis Center for Research, Geisinger Health System, Danville, PA Department of Biomedical Sciences, Stellenbosch University, Tygerberg, South Africa.
André G UitterlindenDepartment of Epidemiology, Erasmus Medical Center, Rotterdam, The Netherlands Department of Internal Medicine, Erasmus Medical Center, Rotterdam, The Netherlands.
Shefali S VermaCenter for Systems Genomics, The Pennsylvania State University, Pennsylvania, PA.
Sita H VermeulenRadboud University Medical Center, Radboud Institute for Health Sciences, Nijmegen, The Netherlands.
Gao T WangCenter for Statistical Genetics, Baylor College of Medicine, Houston, TX.
Aneurysm Consortium; Vascular Research Consortium of New Zealand
Buhm HanDepartment of Convergence Medicine, University of Ulsan College of Medicine and Asan Institute for Life Sciences Asan Medical Center, Seoul, Korea.
Gabriël J E RinkelUtrecht Stroke Center, Department of Neurology and Neurosurgery, Rudolf Magnus Institute of Neuroscience, University Medical Center Utrecht, Utrecht, The Netherlands.
Paul I W de BakkerDepartment of Epidemiology, Julius Center for Health Sciences and Primary Care, University Medical Center Utrecht, Utrecht, The Netherlands pdebakker@umcutrecht.nl.
University Medical Center Utrecht · NLUniversity of Leicester · GBBaylor College of Medicine · USHelsinki University Hospital · FIRadboud University Nijmegen · NLErasmus MC · NLRIKEN Center for Integrative Medical Sciences · JPUniversity of Otago · NZAmsterdam UMC Location Vrije Universiteit Amsterdam · NLFinnish Institute for Health and Welfare · FIIcahn School of Medicine at Mount Sinai · USIndiana University School of MedicineJagiellonian University · PLKuopio University Hospital · FIMayo Clinic · USNational Institute of Genetics · JPNorthwestern University · USPennsylvania State University · USThe University of Texas at Austin · USUlsan College · KR

Funding

HARVARD CLINICAL AND TRANSLATIONAL SCIENCE CENTER (UL1)UL1RR025758 · NCRR · HARVARD MEDICAL SCHOOL · PI NADLER, LEE MARSHALL · 2008 to 2011
$91.4M
Institute for Clinical and Translational Research (UL1)UL1RR025005 · NCRR · JOHNS HOPKINS UNIVERSITY · PI FORD, DANIEL ERNEST · 2007 to 2011
$75.8M
VANDERBILT UNIVERSITY CTSA FOR PEDIATRIC RESEARCHUL1RR024975 · NCRR · VANDERBILT UNIVERSITY · PI BERNARD, GORDON RAPHAEL · 2007 to 2011
$45.7M
Institutional Clinical and Translational Science AwardUL1TR000427 · NCATS · UNIVERSITY OF WISCONSIN-MADISON · PI DREZNER, MARC KENNETH · 2012 to 2016
$32.2M
U OF TEXAS HLTH SCI CTR HOUSTON CENTER FOR CLINICAL AND TRANSLATIONAL SCIENCESUL1RR024148 · NCRR · UNIVERSITY OF TEXAS HLTH SCI CTR HOUSTON · PI MCPHERSON, DAVID D · 2006 to 2010
$27.9M
JH/CIDR Genotyping for Genome-Wide Association StudiesU01HG004438 · NHGRI · JOHNS HOPKINS UNIVERSITY · PI VALLE, DAVID · 2007 to 2011
$24.2M
Indiana Clinical and Translational Sciences InstituteUL1TR001108 · NCATS · INDIANA UNIVERSITY INDIANAPOLIS · PI DENNE, SCOTT C., SHEKHAR, ANANTHA · 2013 to 2017
$23.3M
A Center for GEI Association StudiesU01HG004424 · NHGRI · MASSACHUSETTS INSTITUTE OF TECHNOLOGY · PI GABRIEL, STACEY · 2007 to 2010
$21.4M
Genome-Wide Association Analysis in Essential Hypertension (FEHGAS study)R01HL086694 · NHLBI · NEW YORK UNIVERSITY SCHOOL OF MEDICINE · PI ARAVINDA CHAKRAVARTI · 2007 to 2026
$21.2M
Genomic Basis of Susceptibility to COVID-19 Infection and its ComplicationsU01HG006379 · NHGRI · MAYO CLINIC ROCHESTER · PI Richard R. Sharp · 2011 to 2026
$16.5M
Variation, Function, and Disease Supplement ProgramU01HG008657 · NHGRI · UNIVERSITY OF WASHINGTON · PI David Russell Crosslin, Gail Pairitz Jarvik · 2015 to 2026
$13.4M
Epidemiology of Venous Thrombosis & Pulmonary EmbolismR01HL059367 · NHLBI · UNIVERSITY OF MINNESOTA TWIN CITIES · PI TANG, WEIHONG · 1998 to 2024
$11.8M
British Heart Foundation FS/11/16/28696NCATS NIH HHS UL1 TR000427NCATS NIH HHS UL1 TR001108NCRR NIH HHS UL1 RR024148NCRR NIH HHS UL1 RR024975NCRR NIH HHS UL1 RR025005NCRR NIH HHS UL1 RR025758NHGRI NIH HHS U01 HG004402NHGRI NIH HHS U01 HG004424NHGRI NIH HHS U01 HG004438NHGRI NIH HHS U01 HG004599NHGRI NIH HHS U01 HG004608NHGRI NIH HHS U01 HG004609NHGRI NIH HHS U01 HG004610NHGRI 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 HG008657NHLBI NIH HHS HHSN268201100005CNHLBI NIH HHS HHSN268201100006CNHLBI NIH HHS HHSN268201100007CNHLBI NIH HHS HHSN268201100008CNHLBI NIH HHS HHSN268201100010CNHLBI NIH HHS HHSN268201100011CNHLBI NIH HHS HHSN268201100012CNHLBI NIH HHS K08 HL080085NHLBI NIH HHS P50 HL083794NHLBI NIH HHS R01 HL059367NHLBI NIH HHS R01 HL086694NHLBI NIH HHS R01 HL087641NINDS NIH HHS R03 NS083468Wellcome TrustWellcome Trust 076113Wellcome Trust 084695Wellcome Trust 085475
6 · The paper itself

Abstract

backgroundIntracranial aneurysms (IAs), abdominal aortic aneurysms (AAAs), and thoracic aortic aneurysms (TAAs) all have a familial predisposition. Given that aneurysm types are known to co-occur, we hypothesized that there may be shared genetic risk factors for IAs, AAAs, and TAAs. METHODS AND

resultsWe performed a mega-analysis of 1000 Genomes Project-imputed genome-wide association study (GWAS) data of 4 previously published aneurysm cohorts: 2 IA cohorts (in total 1516 cases, 4305 controls), 1 AAA cohort (818 cases, 3004 controls), and 1 TAA cohort (760 cases, 2212 controls), and observed associations of 4 known IA, AAA, and/or TAA risk loci (9p21, 18q11, 15q21, and 2q33) with consistent effect directions in all 4 cohorts. We calculated polygenic scores based on IA-, AAA-, and TAA-associated SNPs and tested these scores for association to case-control status in the other aneurysm cohorts; this revealed no shared polygenic effects. Similarly, linkage disequilibrium-score regression analyses did not show significant correlations between any pair of aneurysm subtypes. Last, we evaluated the evidence for 14 previously published aneurysm risk single-nucleotide polymorphisms through collaboration in extended aneurysm cohorts, with a total of 6548 cases and 16 843 controls (IA) and 4391 cases and 37 904 controls (AAA), and found nominally significant associations for IA risk locus 18q11 near RBBP8 to AAA (odds ratio [OR]=1.11; P=4.1×10(-5)) and for TAA risk locus 15q21 near FBN1 to AAA (OR=1.07; P=1.1×10(-3)).

conclusionsAlthough there was no evidence for polygenic overlap between IAs, AAAs, and TAAs, we found nominally significant effects of two established risk loci for IAs and TAAs in AAAs. These two loci will require further replication.

Indexed as

AgedAortic Aneurysm, AbdominalAortic Aneurysm, ThoracicCase-Control StudiesCohort StudiesFemaleGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansIntracranial AneurysmLinkage DisequilibriumMaleMiddle AgedOdds RatioPolymorphism, Single NucleotideRisk Factorsabdominal aortic aneurysmgenome wide association studyintracranial aneurysmthoracic aortic aneurysm

Identifiers

PMID27418160
PMCPMC5015357
OpenAlexW2462494405

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Registered trials

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.