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Article Dans Une Revue Nature Genetics Année : 2014

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, 27) , Elisabeth Medeiros (28) , Simone Beretta (29) , Leo H Bonati (7) , Armin J Grau (30) , Patrik Michel (31) , Jennifer J Majersik (32) , Pankaj Sharma (33, 34) , Ludmila Kalashnikova (35) , Maria Nazarova (35, 36) , Larisa Dobrynina (35) , Eva Bartels (37) , Benoit Guillon (38) , Evita G van den Herik (39) , Israel Fernandez-Cadenas (40, 41) , Katarina Jood (42) , Michael A Nalls (43) , Frank-Erik de Leeuw (44) , Christina Jern (44) , Yu-Ching Cheng (25) , Inge Werner (6) , Antti J Metso (5) , Christoph Lichy (6) , Philippe A Lyrer (7) , Tobias Brandt (45) , Giorgio B Boncoraglio (22) , Heinz-Erich Wichmann (46) , Christian Gieger (46) , Andrew D Johnson (47) , Thomas Böttcher (48) , Maurizio Castellano (8) , Dominique Arveiler (49) , M Arfan Ikram (39, 50, 51) , Monique M B Breteler (52, 50) , Alessandro Padovani (8) , James F Meschia (53) , Gregor Kuhlenbäumer (54) , Arndt Rolfs (48) , 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) , Olivier Godefroy (27, 63) , Sandrine Canaple (27, 63)
1 Epidémiologie des maladies chroniques: impact des intéractions gène environnement sur la santé des populations
2 Epidémiologie et Biostatistique [Bordeaux]
3 CNG - Centre National de Génotypage
4 RIKEN IMS - RIKEN Center for Integrative Medical Sciences [Yokohama]
5 HUS - Helsinki University Hospital [Finland]
6 Heidelberg University Hospital [Heidelberg]
7 University Hospital Basel [Basel]
8 UniBs - Università degli Studi di Brescia = University of 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 Maximilian University [Munich] = 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
18 CHU Pitié-Salpêtrière [AP-HP]
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 = University of 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 LNFP - Laboratoire de Neurosciences Fonctionnelles et Pathologies - UR UPJV 4559
28 CHRU Besançon - Centre Hospitalier Régional Universitaire de Besançon
29 UNIMIB - Università degli Studi di Milano-Bicocca = University of Milano-Bicocca
30 Klinikum Ludwigshafen [Germany]
31 Service of Neurology [CHUV, Lausanne, Switzerland]
32 University of Utah School of Medicine [Salt Lake City]
33 ICR2UL - Institute of Cardiovascular Research
34 Ashford and St Peter's hospitals NHS foundation trust
35 RAS - Russian Academy of Sciences [Moscow]
36 Centre for Cognition and Decision Making [HSE, Moscow]
37 Zentrum für neurologische Gefäßdiagnostik - Center for Neurological Vascular Diagnostics [Munich, Germany]
38 Service de neurologie [Nantes]
39 Department of Neurology [Erasmus MC, Rotterdam]
40 Hospital Universitario Mutua de Terrassa
41 Vall d'Hebron University Hospital [Barcelona]
42 Insitute of Neuroscience and Physiology
43 NIA - National Institute on Aging [Bethesda, USA]
44 Donders Institute for Brain, Cognition and Behaviour
45 Schmieder Klinik [Heidelberg, Germany]
46 Helmholtz Zentrum München = German Research Center for Environmental Health
47 Framingham Heart Study
48 University Hospital Rostock
49 Progression tumorale et microenvironnement. Approches translationnelles et épidémiologie
50 Erasmus MC - Erasmus University Medical Center [Rotterdam]
51 NCHA - Netherlands Consortium for Healthy Aging [Leiden, Netherlands]
52 DZNE - German Research Center for Neurodegenerative Diseases - Deutsches Zentrum für Neurodegenerative Erkrankungen
53 Mayo Clinic [Jacksonville]
54 IEM - Institute of Experimental Medicine - Institut für Experimentelle Medizin [Kiel, Germany]
55 WWU - Westfälische Wilhelms-Universität Münster = University of Münster
56 CEPH - Centre d'Etude du Polymorphisme Humain
57 McGill University and Genome Quebec Innovation Centre
58 CHRU Lille - Centre Hospitalier Régional Universitaire [CHU 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
63 CHU Amiens-Picardie

Résumé

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.
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Dates et versions

hal-01253336 , version 1 (16-02-2024)

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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, 2014, 47 (1), pp.78-83. ⟨10.1038/ng.3154⟩. ⟨hal-01253336⟩
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