Evidence map›Paper›PMID 25420145›Full record

ArticleNature genetics2015

Common variation in PHACTR1 is associated with susceptibility to cervical artery dissection.

Stéphanie Debette, Yoichiro Kamatani, Tiina M Metso, Manja Kloss, Ganesh Chauhan, Stefan T Engelter, Alessandro Pezzini, Vincent Thijs, Hugh S Markus, Martin Dichgans and 60 more

Open access · greenAbstract readComparative Study
PubMed Full text at PMC Publisher
In one paragraph

Article in Nature genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 99 papers, 7 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
99citing papers in PubMed, 7 pooled it
13.8field-weighted citation impact, top 1% 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.

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

99 citing papers in PubMed, 7 syntheses or guidelines pooled it, 232 citations in OpenAlex.

  1. Pooled it
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  8. Susceptibility to Childhood Pneumonia: A Genome-Wide Analysis.American journal of respiratory cell and molecular biology · 2017
    Trial
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  11. Observational
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  20. Circulation research · 2024
    Article

39 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

70 authors at 20 institutions in 16 countries.

Stéphanie Debette1] INSERM U744, Lille, France. [2] Institut Pasteur de Lille, Lille, France. [3] Université Lille Nord de France, Lille, France. [4] Lille University Hospital, Lille, France. [5] Department of Neurology, Equipe d'accueil 1046, Lille, France. [6] INSERM U897, University of Bordeaux, Bordeaux, France.
Yoichiro Kamatani1] Centre National de Génotypage, Evry, France. [2] Fondation Jean Dausset, Centre d'Etude du Polymorphisme Humain (CEPH), Paris, France. [3] Center for Integrative Medical Sciences, RIKEN, Yokohama, Japan.
Tiina M MetsoDepartment of Neurology, Helsinki University Central Hospital, Helsinki, Finland.
Manja KlossDepartment of Neurology, Heidelberg University Hospital, Heidelberg, Germany.
Ganesh ChauhanINSERM U897, University of Bordeaux, Bordeaux, France.
Stefan T EngelterDepartment of Neurology, Basel University Hospital, Basel, Switzerland.
Alessandro PezziniDepartment of Clinical and Experimental Sciences, Neurology Clinic, Brescia University Hospital, Brescia, Italy.
Vincent Thijs1] Department of Neurology, Leuven University Hospital, Leuven, Belgium. [2] Vesalius Research Center, VIB, Leuven, Belgium.
Hugh S MarkusDepartment of Clinical Neurosciences, University of Cambridge, Cambridge, UK.
Martin Dichgans1] Institute for Stroke and Dementia Research, Klinikum der Universität München, Ludwig Maximilians Universität, Munich, Germany. [2] Munich Cluster for Systems Neurology (SyNergy), Munich, Germany.
Christiane Wolf1] INSERM U897, University of Bordeaux, Bordeaux, France. [2] Department of Statistical Genetics, Max Planck Institute for Psychiatry, Munich, Germany.
Ralf DittrichDepartment of Neurology, University Hospital of Münster, Münster, Germany.
Emmanuel Touzé1] Department of Neurology, University Hospital of Sainte-Anne, Paris, France. [2] Department of Neurology, University Hospital of Caen, Caen, France.
Andrew M SoutherlandDepartment of Neurology, University of Virginia, Charlottesville, Virginia, USA.
Yves SamsonUrgences Cérébro-Vasculaire, Assistance Publique-Hôpitaux de Paris Salpêtrière Urgences Cérébro-Vasculaires and Université Pierre et Marie Curie Paris Paris VI Université, Paris, France.
Shérine AbboudLaboratory of Experimental Neurology, Université Libre de Bruxelles, Brussels, Belgium.
Yannick BéjotDepartment of Neurology, Dijon University Hospital, Dijon, France.
Valeria Caso1] Stroke Unit, University of Perugia Santa Maria della Misericordia Hospital, Sant'Andrea delle Fratte, Perugia, Italy. [2] Division of Cardiovascular Medicine, University of Perugia Santa Maria della Misericordia Hospital, Sant'Andrea delle Fratte, Perugia, Italy.
Anna BersanoDepartment of Cerebrovascular Diseases, Fondazione Istituto di Ricovero e Cura a Carattere Scientifico Istituto Neurologico Carlo Besta, Milan, Italy.
Andreas Gschwendtner1] Institute for Stroke and Dementia Research, Klinikum der Universität München, Ludwig Maximilians Universität, Munich, Germany. [2] Munich Cluster for Systems Neurology (SyNergy), Munich, Germany.
Maria SessaDepartment of Neurology, Milan, San Raffaele University Hospital, Milan, Italy.
John ColeMaryland Stroke Center, Department of Neurology, University of Maryland School of Medicine, Baltimore, Maryland, USA.
Chantal LamyDepartment of Neurology, Amiens University Hospital, Amiens, France.
Elisabeth MedeirosDepartment of Neurology, Besançon University Hospital, Besançon, France.
Simone BerettaDepartment of Neurology, University of Milano Bicocca, San Gerardo Hospital, Monza, Italy.
Leo H BonatiDepartment of Neurology, Basel University Hospital, Basel, Switzerland.
Armin J GrauDepartment of Neurology, Klinikum Ludwigshafen, Ludwigshafen, Germany.
Patrik MichelDepartment of Neurology, Lausanne University Hospital, Lausanne, Switzerland.
Jennifer J MajersikDivision of Vascular Neurology, Department of Neurology, University of Utah, Salt Lake City, Utah, USA.
Pankaj Sharma1] Institute of Cardiovascular Research Royal Holloway University of London (ICR2UL), London, UK. [2] Ashford and St Peter's Hospitals, London, UK.
Ludmila KalashnikovaResearch Center of Neurology, Russian Academy of Medical Sciences, Moscow, Russia.
Maria Nazarova1] Research Center of Neurology, Russian Academy of Medical Sciences, Moscow, Russia. [2] Centre for Cognition and Decision Making, Higher School of Economics, Moscow, Russia.
Larisa DobryninaResearch Center of Neurology, Russian Academy of Medical Sciences, Moscow, Russia.
Eva BartelsCenter for Neurological Vascular Diagnostics, Munich, Germany.
Benoit GuillonDepartment of Neurology, Nantes University Hospital, Nantes, France.
Evita G van den HerikDepartment of Neurology, Erasmus MC University Medical Center, Rotterdam, the Netherlands.
Israel Fernandez-Cadenas1] Stroke Pharmacogenomics and Genetics, Fundació Docència i Recerca MutuaTerrassa, Terrassa, Spain. [2] Laboratorio Neurovascular, Institut de Recerca, Hospital Vall d'Hebron, Barcelona, Spain.
Katarina JoodInstitute of Neuroscience and Physiology, Sahlgrenska Academy at the University of Gothenburg, Gothenburg, Sweden.
Michael A NallsMolecular Genetics Section, Laboratory of Neurogenetics, National Institute on Aging, US National Institutes of Health, Bethesda, Maryland, USA.
Frank-Erik De LeeuwDonders Institute for Brain, Cognition and Behaviour, Centre for Neuroscience, Department of Neurology, Radboud University Nijmegen Medical Centre, Nijmegen, the Netherlands.
Christina JernDonders Institute for Brain, Cognition and Behaviour, Centre for Neuroscience, Department of Neurology, Radboud University Nijmegen Medical Centre, Nijmegen, the Netherlands.
Yu-Ching ChengMaryland Stroke Center, Department of Neurology, University of Maryland School of Medicine, Baltimore, Maryland, USA.
Inge WernerDepartment of Neurology, Heidelberg University Hospital, Heidelberg, Germany.
Antti J MetsoDepartment of Neurology, Helsinki University Central Hospital, Helsinki, Finland.
Christoph LichyDepartment of Neurology, Heidelberg University Hospital, Heidelberg, Germany.
Philippe A LyrerDepartment of Neurology, Basel University Hospital, Basel, Switzerland.
Tobias BrandtDepartment of Rehabilitation, Schmieder Klinik, Heidelberg, Germany.
Giorgio B BoncoraglioDepartment of Cerebrovascular Diseases, Fondazione Istituto di Ricovero e Cura a Carattere Scientifico Istituto Neurologico Carlo Besta, Milan, Italy.
Heinz-Erich WichmannInstitute of Epidemiology, Helmholtz Center Munich, Neuherberg, Germany.
Christian GiegerInstitute of Genetic Epidemiology, Helmholtz Center Munich, Neuherberg, Germany.
Andrew D JohnsonNational Heart, Lung, and Blood Institute's Framingham Heart Study Cardiovascular Epidemiology and Human Genomics Branch, Framingham, Massachusetts, USA.
Thomas BöttcherDepartment of Neurology, Rostock University Hospital, Rostock, Germany.
Maurizio CastellanoDepartment of Clinical and Experimental Sciences, Clinica Medica, Brescia University Hospital, Brescia, Italy.
Dominique ArveilerDepartment of Epidemiology and Public Health, EA 3430, Strasbourg University, Strasbourg, France.
M Arfan Ikram1] Department of Neurology, Erasmus MC University Medical Center, Rotterdam, the Netherlands. [2] Department of Epidemiology, Erasmus MC University Medical Center, Rotterdam, the Netherlands. [3] Department of Radiology, Erasmus MC University Medical Center, Rotterdam, the Netherlands. [4] Netherlands Consortium for Healthy Aging, Leiden, the Netherlands.
Monique M B Breteler1] Department of Epidemiology, Erasmus MC University Medical Center, Rotterdam, the Netherlands. [2] Population Health Sciences, German Center for Neurodegenerative Diseases (DZNE), Bonn, Germany.
Alessandro PadovaniDepartment of Clinical and Experimental Sciences, Neurology Clinic, Brescia University Hospital, Brescia, Italy.
James F MeschiaDepartment of Neurology, Mayo Clinic Florida, Jacksonville, Florida, USA.
Gregor KuhlenbäumerInstitute of Experimental Medicine, University of Kiel, Kiel, Germany.
Arndt RolfsDepartment of Neurology, Rostock University Hospital, Rostock, Germany.
Bradford B Worrall1] Department of Neurology, University of Virginia, Charlottesville, Virginia, USA. [2] Department of Public Health Sciences, University of Virginia, Charlottesville, Virginia, USA.
International Stroke Genetics Consortium
Erich-Bernd RingelsteinDepartment of Neurology, University Hospital of Münster, Münster, Germany.
Diana ZelenikaCentre National de Génotypage, Evry, France.
Turgut TatlisumakDepartment of Neurology, Helsinki University Central Hospital, Helsinki, Finland.
Mark Lathrop1] Centre National de Génotypage, Evry, France. [2] Fondation Jean Dausset, Centre d'Etude du Polymorphisme Humain (CEPH), Paris, France. [3] Génome Québec, McGill University, Montreal, Quebec, Canada.
Didier Leys1] Université Lille Nord de France, Lille, France. [2] Lille University Hospital, Lille, France. [3] Department of Neurology, Equipe d'accueil 1046, Lille, France. [4] INSERM U897, University of Bordeaux, Bordeaux, France.
Philippe Amouyel1] INSERM U744, Lille, France. [2] Institut Pasteur de Lille, Lille, France. [3] Université Lille Nord de France, Lille, France. [4] Lille University Hospital, Lille, France.
Jean Dallongeville1] INSERM U744, Lille, France. [2] Institut Pasteur de Lille, Lille, France. [3] Université Lille Nord de France, Lille, France.
CADISP Group
Heidelberg University · DEUniversité de Bordeaux · FRUniversity of Maryland, Baltimore · USHelsinki University Hospital · FIMunich Cluster for Systems Neurology · DEUniversity Hospital of Basel · CHCenter for Environmental Health · USCentre Hospitalier Universitaire de Besançon · FRCentre National de Recherche en Génomique Humaine · FRErasmus MC · NLGerman Center for Neurodegenerative Diseases · DEInserm · FRJacksonville College · USRussian Academy of Sciences · RUSorbonne Université · FRUniversity of Cambridge · GBUniversity of Perugia · ITUniversity of Utah · USBrescia University · USCentre Hospitalier Sainte-Anne · FR

Funding

Cardiovascular Genomics and Bioinformatics projectsZIAHL006170 · NHLBI · NATIONAL HEART, LUNG, AND BLOOD INSTITUTE · PI JOHNSON, ANDREW · 2013 to 2025
$25.3M
Intramural NIH HHS Z99 AG999999
6 · The paper itself

Abstract

Cervical artery dissection (CeAD), a mural hematoma in a carotid or vertebral artery, is a major cause of ischemic stroke in young adults although relatively uncommon in the general population (incidence of 2.6/100,000 per year). Minor cervical traumas, infection, migraine and hypertension are putative risk factors, and inverse associations with obesity and hypercholesterolemia are described. No confirmed genetic susceptibility factors have been identified using candidate gene approaches. We performed genome-wide association studies (GWAS) in 1,393 CeAD cases and 14,416 controls. The rs9349379[G] allele (PHACTR1) was associated with lower CeAD risk (odds ratio (OR) = 0.75, 95% confidence interval (CI) = 0.69-0.82; P = 4.46 × 10(-10)), with confirmation in independent follow-up samples (659 CeAD cases and 2,648 controls; P = 3.91 × 10(-3); combined P = 1.00 × 10(-11)). The rs9349379[G] allele was previously shown to be associated with lower risk of migraine and increased risk of myocardial infarction. Deciphering the mechanisms underlying this pleiotropy might provide important information on the biological underpinnings of these disabling conditions.

Indexed as

AllelesPolymorphism, Single NucleotideAdultBrain IschemiaCarotid Artery, Internal, DissectionFemaleFinlandFollow-Up StudiesGenetic PleiotropyGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansHypercholesterolemiaHypertensionMaleMicrofilament ProteinsMicrofilament ProteinsPHACTR1 protein, human

Identifiers

PMID25420145
PMCPMC5824623
OpenAlexW1988886385

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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.