Common variation in PHACTR1 is associated with susceptibility to cervical artery dissection (original) (raw)

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Acknowledgements

The authors thank the staff and participants of all CADISP centers for their important contributions. The CADISP study has been supported by INSERM, Lille 2 University, Institut Pasteur de Lille and Lille University Hospital and received funding from the European Regional Development Fund (FEDER funds) and Région Nord-Pas-de-Calais in the framework of Contrat de Projets Etat-Region 2007–2013 Région Nord-Pas-de-Calais (grant 09120030), Centre National de Génotypage, the Emil Aaltonen Foundation, the Paavo Ilmari Ahvenainen Foundation, the Helsinki University Central Hospital Research Fund, the Helsinki University Medical Foundation, the Päivikki and Sakari Sohlberg Foundation, the Aarne Koskelo Foundation, the Maire Taponen Foundation, the Aarne and Aili Turunen Foundation, the Lilly Foundation, the Alfred Kordelin Foundation, the Finnish Medical Foundation, the Orion Farmos Research Foundation, the Maud Kuistila Foundation, the Finnish Brain Foundation, the Biomedicum Helsinki Foundation, Projet Hospitalier de Recherche Clinique Régional, Fondation de France, Génopôle de Lille, Adrinord, the Basel Stroke Funds, the Käthe-Zingg-Schwichtenberg-Fonds of the Swiss Academy of Medical Sciences and the Swiss Heart Foundation.

L.H.B., S.T.E. and P.A.L. were supported, in part, by a grant from the Swiss National Science Foundation (33CM30-124119). S.D. is supported by a Chair of Excellence from the French National Research Agency (ANR). S.D. and M.D. are supported by a grant from the Leducq Foundation. M.D. is supported by the Vascular Dementia Research Foundation. I.F.-C. is supported by the Miguel Servet programme (CP12/03298) from the Spanish Ministry of Health (Instituto de Salud Carlos III). G.K. is a member of the Deutsche Forschungsgemeinschaft Cluster of Excellence 'Inflammation at Interfaces'. P.S. is supported by a Department of Health (UK) senior fellowship. A.M.S. is supported by the American Heart Association/American Stroke Association National Clinical Research Program (AHA 3CRP14140001). V.T. is supported by Fonds Wetenschappelijk Onderzoek Flanders.

More detailed acknowledgments can be found in the Supplementary Note.

Author information

Author notes

1. Mark Lathrop, Didier Leys, Philippe Amouyel and Jean Dallongeville: These authors contributed equally to this work.

Authors and Affiliations

1. INSERM U744, Lille, France
   Stéphanie Debette, Philippe Amouyel & Jean Dallongeville
2. Institut Pasteur de Lille, Lille, France
   Stéphanie Debette, Philippe Amouyel & Jean Dallongeville
3. Université Lille Nord de France, Lille, France
   Stéphanie Debette, Didier Leys, Philippe Amouyel & Jean Dallongeville
4. Lille University Hospital, Lille, France
   Stéphanie Debette, Didier Leys & Philippe Amouyel
5. Department of Neurology, Equipe d'accueil 1046, Lille, France
   Stéphanie Debette & Didier Leys
6. INSERM U897, University of Bordeaux, Bordeaux, France
   Stéphanie Debette, Ganesh Chauhan, Christiane Wolf & Didier Leys
7. Centre National de Génotypage, Evry, France
   Yoichiro Kamatani, Diana Zelenika & Mark Lathrop
8. Fondation Jean Dausset, Centre d'Etude du Polymorphisme Humain (CEPH),, Paris, France
   Yoichiro Kamatani & Mark Lathrop
9. Center for Integrative Medical Sciences, RIKEN, Yokohama, Japan
   Yoichiro Kamatani
10. Department of Neurology, Helsinki University Central Hospital, Helsinki, Finland
    Tiina M Metso, Antti J Metso & Turgut Tatlisumak
11. Department of Neurology, Heidelberg University Hospital, Heidelberg, Germany
    Manja Kloss, Inge Werner & Christoph Lichy
12. Department of Neurology, Basel University Hospital, Basel, Switzerland
    Stefan T Engelter, Leo H Bonati & Philippe A Lyrer
13. Department of Clinical and Experimental Sciences, Neurology Clinic, Brescia University Hospital, Brescia, Italy
    Alessandro Pezzini & Alessandro Padovani
14. Department of Neurology, Leuven University Hospital, Leuven, Belgium
    Vincent Thijs
15. Vesalius Research Center, VIB, Leuven, Belgium
    Vincent Thijs
16. Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK
    Hugh S Markus
17. Institute for Stroke and Dementia Research, Klinikum der Universität München, Ludwig Maximilians Universität, Munich, Germany
    Martin Dichgans & Andreas Gschwendtner
18. Munich Cluster for Systems Neurology (SyNergy), Munich, Germany
    Martin Dichgans & Andreas Gschwendtner
19. Department of Statistical Genetics, Max Planck Institute for Psychiatry, Munich, Germany
    Christiane Wolf
20. Department of Neurology, University Hospital of Münster, Münster, Germany
    Ralf Dittrich & Erich-Bernd Ringelstein
21. Department of Neurology, University Hospital of Sainte-Anne, Paris, France
    Emmanuel Touzé
22. Department of Neurology, University Hospital of Caen, Caen, France
    Emmanuel Touzé
23. Department of Neurology, University of Virginia, Charlottesville, Virginia, USA
    Andrew M Southerland & Bradford B Worrall
24. Urgences Cérébro-Vasculaire, Assistance Publique–Hôpitaux de Paris Salpêtrière Urgences Cérébro-Vasculaires and Université Pierre et Marie Curie Paris Paris VI Université, Paris, France
    Yves Samson
25. Laboratory of Experimental Neurology, Université Libre de Bruxelles, Brussels, Belgium
    Shérine Abboud
26. Department of Neurology, Dijon University Hospital, Dijon, France
    Yannick Béjot
27. Stroke Unit, University of Perugia Santa Maria della Misericordia Hospital, Sant'Andrea delle Fratte, Perugia, Italy
    Valeria Caso
28. Division of Cardiovascular Medicine, University of Perugia Santa Maria della Misericordia Hospital, Sant'Andrea delle Fratte, Perugia, Italy
    Valeria Caso
29. Department of Cerebrovascular Diseases, Fondazione Istituto di Ricovero e Cura a Carattere Scientifico Istituto Neurologico Carlo Besta, Milan, Italy
    Anna Bersano & Giorgio B Boncoraglio
30. Department of Neurology, Milan, San Raffaele University Hospital, Milan, Italy
    Maria Sessa
31. Department of Neurology, Maryland Stroke Center, University of Maryland School of Medicine, Baltimore, Maryland, USA
    John Cole & Yu-Ching Cheng
32. Department of Neurology, Amiens University Hospital, Amiens, France
    Chantal Lamy
33. Department of Neurology, Besançon University Hospital, Besançon, France
    Elisabeth Medeiros
34. Department of Neurology, University of Milano Bicocca, San Gerardo Hospital, Monza, Italy
    Simone Beretta
35. Department of Neurology, Klinikum Ludwigshafen, Ludwigshafen, Germany
    Armin J Grau
36. Department of Neurology, Lausanne University Hospital, Lausanne, Switzerland
    Patrik Michel
37. Division of Vascular Neurology, Department of Neurology, University of Utah, Salt Lake City, Utah, USA
    Jennifer J Majersik
38. Institute of Cardiovascular Research Royal Holloway University of London (ICR2UL), London, UK
    Pankaj Sharma
39. Ashford and St Peter's Hospitals, London, UK
    Pankaj Sharma
40. Research Center of Neurology, Russian Academy of Medical Sciences, Moscow, Russia
    Ludmila Kalashnikova, Maria Nazarova & Larisa Dobrynina
41. Centre for Cognition and Decision Making, Higher School of Economics, Moscow, Russia
    Maria Nazarova
42. Center for Neurological Vascular Diagnostics, Munich, Germany
    Eva Bartels
43. Department of Neurology, Nantes University Hospital, Nantes, France
    Benoit Guillon
44. Department of Neurology, Erasmus MC University Medical Center, Rotterdam, the Netherlands
    Evita G van den Herik & M Arfan Ikram
45. Stroke Pharmacogenomics and Genetics, Fundació Docència i Recerca MutuaTerrassa, Terrassa, Spain
    Israel Fernandez-Cadenas
46. Laboratorio Neurovascular, Institut de Recerca, Hospital Vall d'Hebron, Barcelona, Spain
    Israel Fernandez-Cadenas
47. Institute of Neuroscience and Physiology, Sahlgrenska Academy at the University of Gothenburg, Gothenburg, Sweden
    Katarina Jood
48. Molecular Genetics Section, Laboratory of Neurogenetics, National Institute on Aging, US National Institutes of Health, Bethesda, Maryland, USA
    Michael A Nalls
49. Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Centre for Neuroscience, Radboud University Nijmegen Medical Centre, Nijmegen, the Netherlands
    Frank-Erik De Leeuw & Christina Jern
50. Department of Rehabilitation, Schmieder Klinik, Heidelberg, Germany
    Tobias Brandt
51. Institute of Epidemiology, Helmholtz Center Munich, Neuherberg, Germany
    Heinz-Erich Wichmann
52. Institute of Genetic Epidemiology, Helmholtz Center Munich, Neuherberg, Germany
    Christian Gieger
53. National Heart, Lung, and Blood Institute's Framingham Heart Study Cardiovascular Epidemiology and Human Genomics Branch, Framingham, Massachusetts, USA
    Andrew D Johnson
54. Department of Neurology, Rostock University Hospital, Rostock, Germany
    Thomas Böttcher & Arndt Rolfs
55. Department of Clinical and Experimental Sciences, Clinica Medica, Brescia University Hospital, Brescia, Italy
    Maurizio Castellano
56. Department of Epidemiology and Public Health, EA 3430, Strasbourg University, Strasbourg, France
    Dominique Arveiler
57. Department of Epidemiology, Erasmus MC University Medical Center, Rotterdam, the Netherlands
    M Arfan Ikram & Monique M B Breteler
58. Department of Radiology, Erasmus MC University Medical Center, Rotterdam, the Netherlands
    M Arfan Ikram
59. Netherlands Consortium for Healthy Aging, Leiden, the Netherlands
    M Arfan Ikram
60. Population Health Sciences, German Center for Neurodegenerative Diseases (DZNE), Bonn, Germany
    Monique M B Breteler
61. Department of Neurology, Mayo Clinic Florida, Jacksonville, Florida, USA
    James F Meschia
62. Institute of Experimental Medicine, University of Kiel, Kiel, Germany
    Gregor Kuhlenbäumer
63. Department of Public Health Sciences, University of Virginia, Charlottesville, Virginia, USA
    Bradford B Worrall
64. Génome Québec, McGill University, Montreal, Quebec, Canada
    Mark Lathrop

Authors

1. Stéphanie Debette
2. Yoichiro Kamatani
3. Tiina M Metso
4. Manja Kloss
5. Ganesh Chauhan
6. Stefan T Engelter
7. Alessandro Pezzini
8. Vincent Thijs
9. Hugh S Markus
10. Martin Dichgans
11. Christiane Wolf
12. Ralf Dittrich
13. Emmanuel Touzé
14. Andrew M Southerland
15. Yves Samson
16. Shérine Abboud
17. Yannick Béjot
18. Valeria Caso
19. Anna Bersano
20. Andreas Gschwendtner
21. Maria Sessa
22. John Cole
23. Chantal Lamy
24. Elisabeth Medeiros
25. Simone Beretta
26. Leo H Bonati
27. Armin J Grau
28. Patrik Michel
29. Jennifer J Majersik
30. Pankaj Sharma
31. Ludmila Kalashnikova
32. Maria Nazarova
33. Larisa Dobrynina
34. Eva Bartels
35. Benoit Guillon
36. Evita G van den Herik
37. Israel Fernandez-Cadenas
38. Katarina Jood
39. Michael A Nalls
40. Frank-Erik De Leeuw
41. Christina Jern
42. Yu-Ching Cheng
43. Inge Werner
44. Antti J Metso
45. Christoph Lichy
46. Philippe A Lyrer
47. Tobias Brandt
48. Giorgio B Boncoraglio
49. Heinz-Erich Wichmann
50. Christian Gieger
51. Andrew D Johnson
52. Thomas Böttcher
53. Maurizio Castellano
54. Dominique Arveiler
55. M Arfan Ikram
56. Monique M B Breteler
57. Alessandro Padovani
58. James F Meschia
59. Gregor Kuhlenbäumer
60. Arndt Rolfs
61. Bradford B Worrall
62. Erich-Bernd Ringelstein
63. Diana Zelenika
64. Turgut Tatlisumak
65. Mark Lathrop
66. Didier Leys
67. Philippe Amouyel
68. Jean Dallongeville

Consortia

International Stroke Genetics Consortium

the CADISP group

Contributions

Study conception and design were performed by S.D., Y.K., M.L., D.L., P.A. and J.D. Acquisition of data was carried out by S.D., T.M.M., M.K., S.T.E., A. Pezzini, V.T., H.S.M., M.D., R.D., E.T., A.M.S., Y.S., S.A., Y.B., V.C., A.B., A.G., M.S., J.C., C. Lamy, E.M., S.B., L.H.B., A.J.G., P.M., J.J.M., P.S., E.B., B.G., E.G.v.d.H., I.F.-C., K.J., I.W., M.A.N., F.-E.D.L., C.J., Y.-C.C., A.J.M., C. Lichy, L.D., L.K., M.N., P.A.L., T. Brandt, G.B.B., H.-E.W., C.G., T. Böttcher, M.C., D.A., M.A.I., M.M.B.B., A. Padovani, J.F.M., G.K., A.R., B.B.W., E.-B.R., D.Z., T.T., M.L., D.L., P.A. and J.D. Statistical analysis and interpretation of the data were performed by S.D., Y.K., C.W., Y.-C.C., G.C., M.L., P.A. and J.D. The manuscript was drafted by S.D., Y.K., M.L., P.A. and J.D. Critical revision of the manuscript was performed by S.D., Y.K., T.M.M., S.T.E., C.W., M.L., P.A., J.D., A. Pezzini, V.T., H.S.M., E.T., A.M.S., J.C., J.J.M., P.S., I.F.-C., A.J.M., P.A.L., M.A.I., D.Z., T.T., M.L., D.L., P.A. and J.D. Annotation for expression quantitative trait loci was performed by A.D.J. Funding was obtained by S.D., S.T.E., A. Pezzini, V.T., H.S.M., M.D., S.B., A.J.G., P.M., J.J.M., P.S., B.G., F.-E.D.L., C.J., P.A.L., G.B.B., H.-E.W., M.C., D.A., M.M.B.B., J.F.M., A.R., B.B.W., E.-B.R., D.Z., T.T., M.L., D.L., P.A. and J.D.

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Correspondence toStéphanie Debette.

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The authors declare no competing financial interests.

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A list of contributing members appears in the Supplementary Note.

A list of members and affiliations appears in the Supplementary Note.

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Debette, S., Kamatani, Y., Metso, T. et al. Common variation in PHACTR1 is associated with susceptibility to cervical artery dissection.Nat Genet 47, 78–83 (2015). https://doi.org/10.1038/ng.3154

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• Received: 27 September 2013
• Accepted: 31 October 2014
• Published: 24 November 2014
• Issue date: January 2015
• DOI: https://doi.org/10.1038/ng.3154