ArticleNature genetics2020
Genome-wide association study of intracranial aneurysms identifies 17 risk loci and genetic overlap with clinical risk factors.
Erratum issued Registry-linked trialOpen access · greenAbstract read
In one paragraph
Article in Nature genetics, 2020. 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 179 papers, 18 of them syntheses that pooled it.
0numbers the graph read from it
0cells of the map it votes in
179citing papers in PubMed, 18 pooled it
13.8field-weighted citation impact, top 1% of its field
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.
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.
@neurIST : Informatique biomédicale intégrée Pour la Gestion Des anévrismes cérébraux
Who cites it
179 citing papers in PubMed, 18 syntheses or guidelines pooled it, 334 citations in OpenAlex.
- Lipid Traits and Risk of Subarachnoid Haemorrhage: A Systematic Review and Mendelian Randomization Study in UK Biobank.Translational stroke research · 2026Pooled it
- Exploring the causal effect of genetically predicted blood and cerebrospinal fluid metabolites and metabolic pathways on intracranial aneurysm.The Journal of international medical research · 2026Pooled it
- Integrative Genome-wide Association Meta-analysis of Aortic Aneurysm and Dissection Identifies Five Novel Genes.Genomics, proteomics & bioinformatics · 2025Pooled it
- Impact of Smoking on Recurrence and Angiographic Outcomes after Endovascular Treatment of Intracranial Aneurysms: A Systematic Review and Meta-Analysis.AJNR. American journal of neuroradiology · 2025Pooled it
- Dissecting the Genetic Architecture of Intracranial Aneurysms.Circulation. Genomic and precision medicine · 2025Pooled it
- Genetically proxied liability to migraine and risk of intracranial aneurysm and subarachnoid hemorrhage.Headache · 2025Pooled it
- The causal relationship between steroid hormones and risk of stroke: evidence from a two-sample Mendelian randomization study.Molecular brain · 2025Pooled it
- Risk Factors for Intracerebral Hemorrhage: Genome-Wide Association Study and Mendelian Randomization Analyses.Stroke · 2024Pooled it
- The association between hematologic traits and aneurysm-related subarachnoid hemorrhage: a two-sample mendelian randomization study.Scientific reports · 2024Pooled it
- A Genome-Wide Association Study of Outcome After Aneurysmal Subarachnoid Haemorrhage: Discovery Analysis.Translational stroke research · 2023Pooled it
- Pooled it
- FHL5 Controls Vascular Disease-Associated Gene Programs in Smooth Muscle Cells.Circulation research · 2023Pooled it
- Genetic variation in NFE2L2 is associated with outcome following aneurysmal subarachnoid haemorrhage.European journal of neurology · 2023Pooled it
- Genetic association between the lncRNA ANRIL rs10757272 polymorphism and intracranial aneurysm susceptibility in Asians.Neurosurgical review · 2022Pooled it
- Genetic Liability to Rheumatoid Arthritis in Relation to Coronary Artery Disease and Stroke Risk.Arthritis & rheumatology (Hoboken, N.J.) · 2022Pooled it
- Sleep-disordered breathing-related symptoms and risk of stroke: cohort study and Mendelian randomization analysis.Journal of neurology · 2022Pooled it
- Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology.Nature genetics · 2021Pooled it
- Genetic investigation of fibromuscular dysplasia identifies risk loci and shared genetics with common cardiovascular diseases.Nature communications · 2021Pooled it
- DNA methylation-estimated phenotypes, telomere length, aging and risk of intracranial aneurysms: Evidence from genetic studies.IBRO neuroscience reports · 2026Article
- Ruptured intraventricular aneurysm in the setting of diffuse cerebral venous congenital abnormalities in a pediatric patient.Radiology case reports · 2026Article
119 more citing papers are in PubMed but not listed here.
Corrections and comments
- Erratum issued
Authors and funding
81 authors at 20 institutions in 14 countries.
Mark K BakkerDepartment of Neurology and Neurosurgery, University Medical Center Utrecht Brain Center, Utrecht University, Utrecht, the Netherlands. m.k.bakker-25@umcutrecht.nl.ORCID http://orcid.org/0000-0002-7887-9014
Rick A A van der SpekDepartment of Neurology and Neurosurgery, University Medical Center Utrecht Brain Center, Utrecht University, Utrecht, the Netherlands.
Wouter van RheenenDepartment of Neurology and Neurosurgery, University Medical Center Utrecht Brain Center, Utrecht University, Utrecht, the Netherlands.ORCID http://orcid.org/0000-0002-5860-1533
Sandrine MorelDepartment of Pathology and Immunology, Faculty of Medicine, University of Geneva, Geneva, Switzerland.ORCID http://orcid.org/0000-0003-1538-3553
Romain Bourcierl'institut du thorax Université de Nantes, CHU Nantes, INSERM, CNRS, Nantes, France.
Isabel C HostettlerStroke Research Centre, University College London Queen Square Institute of Neurology, London, UK.ORCID http://orcid.org/0000-0002-9004-2540
Varinder S AlgStroke Research Centre, University College London Queen Square Institute of Neurology, London, UK.
Kristel R van EijkDepartment of Neurology and Neurosurgery, University Medical Center Utrecht Brain Center, Utrecht University, Utrecht, the Netherlands.
Masaru KoidoLaboratory for Statistical and Translational Genetics, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan.ORCID http://orcid.org/0000-0002-0348-0666
Masato AkiyamaLaboratory for Statistical and Translational Genetics, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan.
Chikashi TeraoLaboratory for Statistical and Translational Genetics, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan.ORCID http://orcid.org/0000-0002-6452-4095
Koichi MatsudaGraduate School of Frontier Sciences, The University of Tokyo, Tokyo, Japan.ORCID http://orcid.org/0000-0001-7292-2686
Robin G WaltersClinical Trial Service Unit and Epidemiological Studies Unit, Nuffield Department of Population Health, University of Oxford, Oxford, UK.ORCID http://orcid.org/0000-0002-9179-0321
Kuang LinClinical Trial Service Unit and Epidemiological Studies Unit, Nuffield Department of Population Health, University of Oxford, Oxford, UK.
Liming LiDepartment of Epidemiology, School of Public Health, Peking University Health Science Center, Beijing, China.
Iona Y MillwoodClinical Trial Service Unit and Epidemiological Studies Unit, Nuffield Department of Population Health, University of Oxford, Oxford, UK.
Zhengming ChenClinical Trial Service Unit and Epidemiological Studies Unit, Nuffield Department of Population Health, University of Oxford, Oxford, UK.ORCID http://orcid.org/0000-0001-6423-105X
Guy A RouleauMontréal Neurological Institute and Hospital, McGill University, Montréal, QC, Canada.ORCID http://orcid.org/0000-0001-8403-1418
Sirui ZhouLady Davis Institute, Jewish General Hospital, McGill University, Montréal, QC, Canada.
Kristiina RannikmäeCentre for Medical Informatics, Usher Institute, University of Edinburgh, Edinburgh, UK.ORCID http://orcid.org/0000-0002-2384-7568
Cathie L M SudlowCentre for Medical Informatics, Usher Institute, University of Edinburgh, Edinburgh, UK.
Henry HouldenNeurogenetics Laboratory, The National Hospital of Neurology and Neurosurgery, London, UK.ORCID http://orcid.org/0000-0002-2866-7777
Leonard H van den BergDepartment of Neurology and Neurosurgery, University Medical Center Utrecht Brain Center, Utrecht University, Utrecht, the Netherlands.
Christian Dinal'institut du thorax Université de Nantes, CHU Nantes, INSERM, CNRS, Nantes, France.ORCID http://orcid.org/0000-0002-7722-7348
Olivier NaggaraPediatric Radiology, Necker Hospital for Sick Children, Université Paris Descartes, Paris, France.
Jean-Christophe GentricDepartment of Neuroradiology, University Hospital of Brest, Brest, France.
Eimad ShotarDepartment of Neuroradiology, Pitié-Salpêtrière Hospital, Paris, France.
François EugèneDepartment of Neuroradiology, University Hospital of Rennes, Rennes, France.ORCID http://orcid.org/0000-0001-7367-8793
Hubert Desall'institut du thorax Université de Nantes, CHU Nantes, INSERM, CNRS, Nantes, France.
Bendik S WinsvoldDepartment of Research, Innovation and Education, Division of Clinical Neuroscience, Oslo University Hospital, Oslo, Norway.ORCID http://orcid.org/0000-0003-4171-8919
Sigrid BørteK. G. Jebsen Center for Genetic Epidemiology, Department of Public Health and Nursing, Faculty of Medicine and Health Sciences, Norwegian University of Science and Technology, Trondheim, Norway.ORCID http://orcid.org/0000-0001-9540-3256
Marianne Bakke JohnsenK. G. Jebsen Center for Genetic Epidemiology, Department of Public Health and Nursing, Faculty of Medicine and Health Sciences, Norwegian University of Science and Technology, Trondheim, Norway.
Ben M BrumptonK. G. Jebsen Center for Genetic Epidemiology, Department of Public Health and Nursing, Faculty of Medicine and Health Sciences, Norwegian University of Science and Technology, Trondheim, Norway.ORCID http://orcid.org/0000-0002-3058-1059
Marie Søfteland SandveiDepartment of Public Health and Nursing, Faculty of Medicine and Health Sciences, Norwegian University of Science and Technology, Trondheim, Norway.ORCID http://orcid.org/0000-0002-8972-8254
Cristen J WillerDepartment of Internal Medicine, Division of Cardiovascular Medicine, University of Michigan, Ann Arbor, MI, USA.ORCID http://orcid.org/0000-0001-5645-4966
Kristian HveemK. G. Jebsen Center for Genetic Epidemiology, Department of Public Health and Nursing, Faculty of Medicine and Health Sciences, Norwegian University of Science and Technology, Trondheim, Norway.
John-Anker ZwartDepartment of Research, Innovation and Education, Division of Clinical Neuroscience, Oslo University Hospital, Oslo, Norway.ORCID http://orcid.org/0000-0001-5721-0154
W M Monique VerschurenJulius Center for Health Sciences and Primary Care, University Medical Center Utrecht, Utrecht, the Netherlands.
Christoph M FriedrichDortmund University of Applied Science and Arts, Dortmund, Germany.ORCID http://orcid.org/0000-0001-7906-0038
Sven HirschZurich University of Applied Sciences, School of Life Sciences and Facility Management, Zurich, Switzerland.ORCID http://orcid.org/0000-0002-5678-4110
Sabine SchillingZurich University of Applied Sciences, School of Life Sciences and Facility Management, Zurich, Switzerland.ORCID http://orcid.org/0000-0002-8318-9421
Jérôme DauvillierSIB Swiss Institute of Bioinformatics, Lausanne, Switzerland.ORCID http://orcid.org/0000-0002-1353-7478
Olivier MartinSIB Swiss Institute of Bioinformatics, Lausanne, Switzerland.
HUNT All-In Stroke
China Kadoorie Biobank Collaborative Group
BioBank Japan Project Consortium
ICAN Study Group
CADISP Group
Genetics and Observational Subarachnoid Haemorrhage (GOSH) Study investigators
International Stroke Genetics Consortium (ISGC)
Gregory T JonesDepartment of Surgery, University of Otago, Dunedin, New Zealand.ORCID http://orcid.org/0000-0002-6950-4210
Matthew J BownDepartment of Cardiovascular Sciences and National Institute for Health Research, University of Leicester, Leicester, UK.ORCID http://orcid.org/0000-0002-6180-3611
Nerissa U KoDepartment of Neurology, University of California at San Francisco, San Francisco, CA, USA.ORCID http://orcid.org/0000-0002-3439-0559
Helen KimDepartment of Anesthesia and Perioperative Care, Center for Cerebrovascular Research, University of California, San Francisco, CA, USA.ORCID http://orcid.org/0000-0002-1937-354X
Jonathan R I ColemanSocial, Genetic and Developmental Psychiatry Centre, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK.ORCID http://orcid.org/0000-0002-6759-0944
Gerome BreenSocial, Genetic and Developmental Psychiatry Centre, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK.
Jonathan G ZaroffDivision of Research, Kaiser Permanente of Northern California, Oakland, CA, USA.
Catharina J M KlijnDepartment of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.ORCID http://orcid.org/0000-0002-8495-4578
Rainer MalikInstitute for Stroke and Dementia Research, University Hospital, Ludwig-Maximilians-University, Munich, Germany.
Martin DichgansMunich Cluster for Systems Neurology (SyNergy), Munich, Germany.ORCID http://orcid.org/0000-0002-0654-387X
Muralidharan SargurupremrajINSERM U1219 Bordeaux Population Health Research Center, University of Bordeaux, Bordeaux, France.
Turgut TatlisumakDepartment of Clinical Neuroscience at Institute of Neuroscience and Physiology, University of Gothenburg, Gothenburg, Sweden.
Philippe AmouyelInstitut Pasteur de Lille, UMR1167 LabEx DISTALZ - RID-AGE Université de Lille, INSERM, Centre Hospitalier Université de Lille Lille, Lille Lille, France.ORCID http://orcid.org/0000-0001-9088-234X
Stéphanie DebetteINSERM U1219 Bordeaux Population Health Research Center, University of Bordeaux, Bordeaux, France.ORCID http://orcid.org/0000-0001-8675-7968
Gabriel J E RinkelDepartment of Neurology and Neurosurgery, University Medical Center Utrecht Brain Center, Utrecht University, Utrecht, the Netherlands.
Bradford B WorrallDepartments of Neurology and Public Health Sciences, University of Virginia School of Medicine, Charlottesville, VA, USA.
Joanna PeraDepartment of Neurology, Faculty of Medicine, Jagiellonian University Medical College, Krakow, Poland.
Agnieszka SlowikDepartment of Neurology, Faculty of Medicine, Jagiellonian University Medical College, Krakow, Poland.
Emília I Gaál-PaavolaDepartment of Neurosurgery, Helsinki University Hospital, University of Helsinki, Helsinki, Finland.
Mika NiemeläDepartment of Neurosurgery, Helsinki University Hospital, University of Helsinki, Helsinki, Finland.
Juha E JääskeläinenNeurosurgery NeuroCenter, Kuopio University Hospital, Kuopio, Finland.
Mikael von Und Zu FraunbergNeurosurgery NeuroCenter, Kuopio University Hospital, Kuopio, Finland.
Antti LindgrenNeurosurgery NeuroCenter, Kuopio University Hospital, Kuopio, Finland.ORCID http://orcid.org/0000-0002-1264-7667
Joseph P BroderickUniversity of Cincinnati College of Medicine, Cincinnati, OH, USA.
David J WerringStroke Research Centre, University College London Queen Square Institute of Neurology, London, UK.ORCID http://orcid.org/0000-0003-2074-1861
Daniel WooUniversity of Cincinnati College of Medicine, Cincinnati, OH, USA.
Richard Redonl'institut du thorax Université de Nantes, CHU Nantes, INSERM, CNRS, Nantes, France.ORCID http://orcid.org/0000-0001-7751-2280
Philippe BijlengaNeurosurgery Division, Department of Clinical Neurosciences, Faculty of Medicine, Geneva University Hospitals, Geneva, Switzerland.ORCID http://orcid.org/0000-0002-3586-2757
Yoichiro KamataniLaboratory for Statistical and Translational Genetics, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan.
Jan H VeldinkDepartment of Neurology and Neurosurgery, University Medical Center Utrecht Brain Center, Utrecht University, Utrecht, the Netherlands.ORCID http://orcid.org/0000-0001-5572-9657
Ynte M RuigrokDepartment of Neurology and Neurosurgery, University Medical Center Utrecht Brain Center, Utrecht University, Utrecht, the Netherlands. ij.m.ruigrok@umcutrecht.nl.ORCID http://orcid.org/0000-0002-5396-2989
Utrecht University · NLCentre National de la Recherche Scientifique · FRNorwegian University of Science and Technology · NOUniversity of Oxford · GBJagiellonian University · PLSIB Swiss Institute of Bioinformatics · CHUniversity of Helsinki · FIOslo University Hospital · NOUniversité de Bordeaux · FRDélégation Paris 5 · FRDortmund University of Applied Sciences and Arts · DEKaiser Permanente · USKing's College London · GBMontreal Neurological Institute and Hospital · CANational Hospital for Neurology and Neurosurgery · GBRadboud University Nijmegen · NLUniversity of California, San Francisco · USUniversity of Eastern Finland · FIUniversity of Geneva · CHJewish General Hospital · CA
Funding
PREDICTORS OF SPONTANEOUS CEREBRAL AVM HEMORRHAGER01NS034949 · NINDS · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI KIM, HELEN · 1995 to 2017
$6.5MBritish Heart FoundationCancer Research UKCIHRDepartment of HealthMedical Research Council MC_PC_13049Medical Research Council MC-PC-14135Medical Research Council MC_PC_14135Medical Research Council MC_PC_17228Medical Research Council MC_QA137853Medical Research Council MC_U137686851Medical Research Council MC_UU_00017/1Medical Research Council MC_UU_12026/2Medical Research Council MR/S004130/1NINDS NIH HHS R01 NS034949Wellcome Trust 088158Wellcome Trust 088158/Z/09/ZWellcome Trust 104085Wellcome Trust 104085/Z/14/ZWellcome Trust 202922Wellcome Trust 202922/Z/16/ZWellcome Trust 212946/Z/18/Z
Abstract
Rupture of an intracranial aneurysm leads to subarachnoid hemorrhage, a severe type of stroke. To discover new risk loci and the genetic architecture of intracranial aneurysms, we performed a cross-ancestry, genome-wide association study in 10,754 cases and 306,882 controls of European and East Asian ancestry. We discovered 17 risk loci, 11 of which are new. We reveal a polygenic architecture and explain over half of the disease heritability. We show a high genetic correlation between ruptured and unruptured intracranial aneurysms. We also find a suggestive role for endothelial cells by using gene mapping and heritability enrichment. Drug-target enrichment shows pleiotropy between intracranial aneurysms and antiepileptic and sex hormone drugs, providing insights into intracranial aneurysm pathophysiology. Finally, genetic risks for smoking and high blood pressure, the two main clinical risk factors, play important roles in intracranial aneurysm risk, and drive most of the genetic correlation between intracranial aneurysms and other cerebrovascular traits.
Indexed as
Asian PeopleBlood PressureCase-Control StudiesEndothelial CellsGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansHypertensionIntracranial AneurysmPolymorphism, Single NucleotideRisk FactorsSmokingSubarachnoid HemorrhageWhite People
Identifiers
What OpenQuestion holds
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Read underepoch 390
Registered trials
NCT05526352ClinicalTrials.gov
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.