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

Stéphanie Debette 1 Yoichiro Kamatani 2, 3 Tiina M Metso Manja Kloss Ganesh Chauhan 4 Stefan T Engelter Alessandro Pezzini Vincent Thijs Hugh S Markus 5 Martin Dichgans 6 Christiane Wolf 7 Ralf Dittrich 8 Emmanuel Touzé Andrew M Southerland Yves Samson 9 Shérine Abboud 10 Yannick Béjot 11 Valeria Caso Anna Bersano Andreas Gschwendtner Maria Sessa John Cole Chantal Lamy 12 Elisabeth Medeiros Simone Beretta 13, 14 Leo H Bonati Armin J Grau 15 Patrik Michel 16 Jennifer J Majersik Pankaj Sharma Ludmila Kalashnikova Maria Nazarova Larisa Dobrynina Eva Bartels Benoit Guillon 17 Evita G Van den Herik Israel Fernandez-Cadenas Katarina Jood 18 Michael A Nalls 19 Frank-Erik De Leeuw 20 Christina Jern 18 Yu-Ching Cheng 21 Inge Werner 22 Antti J Metso Christoph Lichy Philippe A Lyrer Tobias Brandt Giorgio B Boncoraglio Heinz-Erich Wichmann 23 Christian Gieger 24 Andrew D Johnson Thomas Böttcher Maurizio Castellano Dominique Arveiler 25 M Arfan Ikram 26, 27, 28 Monique M B Breteler 29, 30 Alessandro Padovani 31 James F Meschia Gregor Kuhlenbäumer 32 Arndt Rolfs 33 Bradford B Worrall Erich-Bernd Ringelstein 34 Diana Zelenika 35 Turgut Tatlisumak Mark Lathrop 36 Didier Leys Philippe Amouyel 37, 38 Jean Dallongeville 39
1 INSERM U897, University of Bordeaux, France
2 IG - Institut de Génomique d'Evry
3 CNG - Centre National de Génotypage
4 INSERM Research Center for Epidemiology and Biostatistics (U897) Team Neuroepidemiology, Bordeaux, France College of Health Sciences, University of Bordeaux, Bordeaux, France
5 UNSW - University of New South Wales [Sydney]
6 SyNergy - Munich Center for Systems Neurology
7 imagine - Extraction de Caractéristiques et Identification
LIRIS - Laboratoire d'InfoRmatique en Image et Systèmes d'information
8 University Hospital Erlangen
9 NEMESIS-CRICM - Equipe NEMESIS - Centre de Recherches de l'Institut du Cerveau et de la Moelle épinière
CRICM - Centre de Recherche de l'Institut du Cerveau et de la Moelle épinière
10 Department of Medical Neurobiology [Jérusalem]
11 Service de Neurologie générale, vasculaire et dégénérative (CHU de Dijon)
12 CESCM - Centre d'Etudes Supérieures de Civilisation médiévale
13 Laboratory of Experimental Stroke Research
14 Neuromi
15 LEPSE - Écophysiologie des Plantes sous Stress environnementaux
16 Lausanne University Hospital
17 LIST - Laboratoire d'Intégration des Systèmes et des Technologies
18 Insitute of Neuroscience and Physiology
19 Laboratory of Neurogenetics, Intramural Research Program, National Institute on Aging, National Institutes of Health (NIH), Bethesda, Maryland, USA
20 Netherlands Environmental Assessment Agency
21 Photonics and photonic materials group, Departement of Physics, University of bath
22 Aquatic Toxicology Laboratory
23 Institute of Epidemiology
24 HZM - Helmholtz-Zentrum München
25 Faculté de Médecine, EA 3430 Laboratoire d’Epidémiologie et de Santé Publique
26 Netherlands Consortium for Healthy Ageing, Leiden, The Netherlands
27 Department of Neurology, Erasmus Medical Center University Medical Center, Rotterdam, The Netherlands
28 Department of Radiology, Erasmus Medical Center University Medical Center, Rotterdam, The Netherlands
29 Department of Epidemiology, Harvard School of Public Health, Harvard University, Boston, Massachusetts, USA
30 Population Health Sciences, German Center for Neurodegenerative Diseases (DZNE), Bonn, Germany
31 University of Brescia
32 Institute of Experimental Medicine
33 Albrecht-Kossel-Institut fur Neuroregeneration
34 WWU - Westfälische Wilhelms-Universität Münster
35 CNG - Centre National de Génotypage
36 Centre National de Genotypage
37 Institut Pasteur de Lille
38 Université de Lille
39 U 744, Laboratoire d’Epidémiologie et de Santé Publique
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.
Type de document :
Article dans une revue
Nature Genetics, Nature Publishing Group, 2014, 47 (1), pp.78-83
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https://hal.inria.fr/hal-01253336
Contributeur : Olivier Colliot <>
Soumis le : samedi 9 janvier 2016 - 18:50:54
Dernière modification le : jeudi 20 septembre 2018 - 14:00:21

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Stéphanie Debette, Yoichiro Kamatani, Tiina M Metso, Manja Kloss, Ganesh Chauhan, et al.. Common variation in PHACTR1 is associated with susceptibility to cervical artery dissection.. Nature Genetics, Nature Publishing Group, 2014, 47 (1), pp.78-83. 〈hal-01253336〉

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