Skip to Main content Skip to Navigation
Journal articles

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

Stéphanie Debette 1, 2, * Yoichiro Kamatani 3, 4 Tiina M Metso 5 Manja Kloss 6 Ganesh Chauhan 2 Stefan T Engelter 7 Alessandro Pezzini 8 Vincent Thijs 9, 10 Hugh S Markus 11 Martin Dichgans 12 Christiane Wolf 2, 13 Ralf Dittrich 14 Emmanuel Touzé 15, 16 Andrew M Southerland 17 Yves Samson 18 Shérine Abboud 19 Yannick Béjot 20 Valeria Caso 21 Anna Bersano 22 Andreas Gschwendtner 12, 23 Maria Sessa 24 John Cole 25 Chantal Lamy 26 Elisabeth Medeiros 27 Simone Beretta 28 Leo H Bonati 7 Armin J Grau 29 Patrik Michel 30 Jennifer J Majersik 31 Pankaj Sharma 32, 33 Ludmila Kalashnikova 34 Maria Nazarova 34, 35 Larisa Dobrynina 34 Eva Bartels 36 Benoit Guillon 37 Evita G van den Herik 38 Israel Fernandez-Cadenas 39, 40 Katarina Jood 41 Michael A Nalls 42 Frank-Erik de Leeuw 43 Christina Jern 43 Yu-Ching Cheng 25 Inge Werner 6 Antti J Metso 5 Christoph Lichy 6 Philippe A Lyrer 7 Tobias Brandt 44 Giorgio B Boncoraglio 22 Heinz-Erich Wichmann 45 Christian Gieger 45 Andrew D Johnson 46 Thomas Böttcher 47 Maurizio Castellano 8 Dominique Arveiler 48 M Arfan Ikram 38, 49, 50 Monique M B Breteler 51, 49 Alessandro Padovani 52 James F Meschia 53 Gregor Kuhlenbäumer 54 Arndt Rolfs 47 Bradford B Worrall 17 Erich-Bernd Ringelstein 55 Diana Zelenika 3 Turgut Tatlisumak 5 Mark Lathrop 3, 56, 57 Didier Leys 2, 58, 59, 60 Philippe Amouyel 61, 59, 62, 58 Jean Dallongeville 62, 61, 59
* Corresponding author
1 Epidémiologie des maladies chroniques: impact des intéractions gène environnement sur la santé des populations
2 Epidemiologie-Biostatistique [Bordeaux]
3 CNG - Centre National de Génotypage
4 RIKEN IMS - RIKEN Center for Integrative Medical Sciences [Yokohama]
5 HUCH - Helsinki University Central Hospital [Finland]
6 Heidelberg University Hospital [Heidelberg]
7 University Hospital Basel [Basel]
8 Università degli Studi di Brescia [Brescia]
9 University Hospitals Leuven [Leuven]
10 VIB-KU-CCB - Leuven Center for Cancer Biology
11 CAM - University of Cambridge [UK]
12 ISD - Institute for Stroke and Dementia Research
13 LMU - Ludwig-Maximilians-Universität München
14 UKM - University Hospital Münster - Universitaetsklinikum Muenster [Germany]
15 Centre Hospitalier Sainte Anne [Paris]
16 Service de Neurologie [CHU Caen]
17 University of Virginia [Charlottesville]
18 Service des Urgences Cérébro-Vasculaires [CHU Pitié-Salpêtrière]]
19 ULB 257 - Laboratoire de Neurochirurgie Expérimentale [Brussels]
20 Service de Neurologie générale, vasculaire et dégénérative (CHU de Dijon)
21 UNIPG - Università degli Studi di Perugia
22 Fondazione IRCCS Istituto Neurologico "Carlo Besta"
23 SyNergy - Munich Cluster for systems neurology [Munich]
24 Ospedale San Raffaele
25 University of Maryland School of Medicine
26 Service de neurologie [Amiens]
27 CHRU Besançon - Centre Hospitalier Régional Universitaire [Besançon]
28 UNIMIB - Università degli Studi di Milano-Bicocca [Milano]
29 Klinikum Ludwigshafen [Germany]
30 Service of Neurology [CHUV, Lausanne, Switzerland]
31 University of Utah School of Medicine [Salt Lake City]
32 ICR2UL - Institute of Cardiovascular Research
RHUL - Royal Holloway [University of London]
33 Ashford and St Peter's hospitals NHS foundation trust
34 RAS - Russian Academy of Sciences [Moscow]
35 Centre for Cognition and Decision Making [HSE, Moscow]
36 Zentrum für neurologische Gefäßdiagnostik - Center for Neurological Vascular Diagnostics [Munich, Germany]
37 Service de neurologie [Nantes]
38 Department of Neurology [Erasmus MC, Rotterdam]
39 Hospital Universitario Mutua de Terrassa
40 Vall d'Hebron University Hospital [Barcelona]
41 Insitute of Neuroscience and Physiology
42 NIA - National Institute on Aging [Bethesda, USA]
43 Donders Institute for Brain, Cognition and Behaviour
44 Schmieder Klinik [Heidelberg, Germany]
45 HZM - Helmholtz-Zentrum München
46 Framingham Heart Study
47 University Hospital Rostock
48 Progression tumorale et microenvironnement. Approches translationnelles et épidémiologie
49 Erasmus MC - Erasmus University Medical Center [Rotterdam]
50 NCHA - Netherlands Consortium for Healthy Aging [Leiden, Netherlands]
51 DZNE - German Research Center for Neurodegenerative Diseases - Deutsches Zentrum für Neurodegenerative Erkrankungen
52 University of Brescia
53 Mayo Clinic [Jacksonville]
54 IEM - Institute of Experimental Medicine - Institut für Experimentelle Medizin [Kiel, Germany]
55 WWU - Westfälische Wilhelms-Universität Münster
56 CEPH - Centre d'Etude du Polymorphisme Humain
57 McGill University and Genome Quebec Innovation Centre
58 CHRU Lille - Centre Hospitalier Régional Universitaire [Lille]
59 Université de Lille
60 Pharmacologie de la mort neuronale et de la plasticité cérébrale
61 Institut Pasteur de Lille
62 Epidémiologie des maladies chroniques : impact des interactions gène environnement sur la santé des populations
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.
Document type :
Journal articles
Complete list of metadata
https://hal.inria.fr/hal-01253336
Contributor : Olivier Colliot <>
Submitted on : Saturday, January 9, 2016 - 6:50:54 PM
Last modification on : Friday, June 11, 2021 - 9:26:02 AM

Links full text

pubmedcentral

Identifiers

Collections

RIIP_LILLE | CEA | JACOB | CEA-DRF | RIIP | UNIV-LILLE | UNICAEN | COMUE-NORMANDIE | FNCLCC | UNIV-NANTES | SITE-ALSACE | UNIV-PARIS7 | USPC | UNIV-PARIS | SORBONNE-UNIVERSITE | SU-TI

Citation

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. ⟨10.1038/ng.3154⟩. ⟨hal-01253336⟩

Export

BibTeX TEI DC DCterms EndNote

Share

Metrics

Record views

1378

 

Contact                    Legal Notice                    Personal Data