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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 d'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 de 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 Helmholtz Zentrum München = German Research Center for Environmental Health

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 = 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 [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

Domain :

Engineering Sciences [physics] / Signal and Image processing

Computer Science [cs] / Computer Vision and Pattern Recognition [cs.CV]

Computer Science [cs] / Medical Imaging

Computer Science [cs] / Image Processing [eess.IV]

Life Sciences [q-bio] / Bioengineering / Imaging

Life Sciences [q-bio] / Neurons and Cognition [q-bio.NC] / Neurobiology

Complete list of metadata

https://hal.inria.fr/hal-01253336
Contributor : Olivier Colliot Connect in order to contact the contributor
Submitted on : Saturday, January 9, 2016 - 6:50:54 PM
Last modification on : Friday, August 5, 2022 - 3:05:12 PM