A genome-wide association meta-analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosis

Human Molecular Genetics - Tập 23 Số 8 - Trang 2220-2231 - 2014
Isabella Fogh1,2,3, Antonia Ratti1,3, Cinzia Gellera4, K. Lin2, John E. Landers1,5, Valentina Escott‐Price6, Lucia Corrado7, Gianni Sorarù8, Cristina Cereda9, Stefania Corti3,10, Davide Gentilini11, Daniela Calini1, Barbara Castellotti4, Letizia Mazzini7,12, Marka van Blitterswijk8, Stella Gagliardi9, Dongsheng Fan3,10, F. L. Conforti13, Gabriele Siciliano14, Maurizio Inghilleri15, Francesco Saccà16, Paolo Bongioanni17, Silvana Penco18, Massimo Corbo19, Sandro Sorbi20, Massimiliano Filosto21, Alessandra Ferlini22, Anna Maria Di Blasio11, Stefano Signorini23, Aleksey Shatunov24, Ashley Jones24, Pamela J. Shaw25, Karen Morrison26,27, Anne Farmer28, Philip Van Damme29,30, Adriano Chiò31,32, Bryan J. Traynor33, Michael Sendtner34, Judith Field35, Vincent Meininger36, Orla Hardiman37, Peter M. Andersen38, Nigel P. Leigh39, Jonathan D. Glass40, Daniel J. Overste41, Frank P. Diekstra41, Jan H. Veldink41, Michael A. van Es41, Christopher E. Shaw24, Michael E. Weale42,28, Cathryn M. Lewis42,28, Julie Williams6, Robert H. Brown43, Nicola Ticozzi1,3, Mauro Ceroni44, Elena Pegoraro8, Giacomo P. Comi3,10, Sandra D’Alfonso7, Leonard H. van den Berg41, Franco Taroni4, Ammar Al‐Chalabi24, John Powell2, Vincenzo Silani1,3, Vincenzo Brescia Morra, Alessandro Filla, Massimo Falconi, Angela Marsili, Viviana Pensato, Giorgia Puorro, Vincenzo La Bella, Giancarlo Logroscino, Maria Sofia Cotelli, Aldo Quattrone, Isabella Laura Simone, Kreshnik Ahmeti, Senda Ajroud‐Driss, Jennifer A. Armstrong, Annachiara Cagnin, Hylke M. Blauw, Lucie Bruijn, W. Chen, Mary C. Comeau, Simon Cronin, Ghasemi Soraya, J. D. Grab, Emma J. Groen, Jonathan L. Haines, Sandra Heller, Jie Huang, W.-Y. Hung, ITALSGEN Consortium, James Jaworski, Humaira Majeed Khan, Carl D. Langefeld, Adam Adler, Russell L. McLaughlin, Jack W. Miller, Gabriele Mora, Margaret A. Pericak‐Vance, Evadnie Rampersaud, Nailah Siddique, Teepu Siddique, Benjamin N. Smith, Robert Sufit, Simon Topp, Caroline Vance, Paul van Vught, Yi Yang, Juefei Zheng
1Department of Neurology and Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, 20149 Milano, Italy
2Department of Neuroscience,
3Department of Pathophysiology and Tranplantation, 'Dino Ferrari' Center and
4Unit of Genetics of Neurodegenerative and Metabolic Diseases, Fondazione IRCCS Istituto Neurologico 'Carlo Besta', 20133 Milano, Italy
5Doctoral School in Molecular Medicine, Università degli Studi di Milano, 20122 Milano, Italy
6Department of Psychological Medicine and Neurology, School of Medicine, MRC Centre for Neuropsychiatric Genetics and Genomics, Cardiff University, Cardiff CF14 4XN, UK
7Department of Health Sciences, Interdisciplinary Research Center of Autoimmune Diseases, 'A. Avogadro' University, 28100 Novara, Italy
8Department of Neurosciences, University of Padova, 35128 Padova, Italy
9Laboratory of Experimental Neurobiology and
10Neurologic Unit, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, 20122 Milano, Italy
11Laboratory of Molecular Biology, IRCCS Istituto Auxologico Italiano, 20095 Cusano Milanino, Italy
12Department of Neurology, ALS Center, Maggiore della Carità University Hospital, 28100 Novara, Italy
13Institute of Neurological Sciences, National Research Council, 87050 Mangone, Italy
14Division of Neurology, Department of Clinical and Experimental Medicine, University of Pisa, Nuovo Ospedale S.Chiara-Cisanello, 56126 Pisa, Italy
15Department of Neurology and Psychiatry, University of Rome 'Sapienza', 00185 Roma, Italy
16Department of Neurological Sciences, University Federico II, 80131 Napoli, Italy
17Neurorehabilitation Unit, Azienda Ospedaliero-Universitaria Pisana, 56126 Pisa, Italy
18Department of Laboratory Medicine, Medical Genetics Unit, Niguarda Ca' Granda Hospital, 20162 Milano, Italy
19NeuroMuscular Omnicentre (NEMO), Fondazione Serena Onlus, Niguarda Ca' Granda Hospital, 20162 Milano, Italy
20Department of Neurological and Psychiatric Sciences, University of Firenze, 50139 Firenze, Italy
21Clinical Neurology, Section for Neuromuscular Diseases and Neuropathies, University Hospital 'Spedali Civili', 25123 Brescia, Italy
22Department of Medical Sciences, University of Ferrara, 44100 Ferrara, Italy
23Azienda Ospedaliera di Desio e Vimercate, 20871 Vimercate, Italy
24Department of Clinical Neuroscience and
25Academic Neurology Unit, Department of Neuroscience, Faculty of Medicine, Dentistry and Health, University of Sheffield, Sheffield S10 2HQ, UK
26Neurosciences Division, University Hospitals Birmingham NHS Foundation Trust, Birmingham B15 2TT, UK
27School of Clinical and Experimental Medicine, College of Medicine and Dentistry, University of Birmingham, and
28MRC Social, Genetic and Developmental Psychiatry Centre, Institute of Psychiatry, King's College London, London, SE5 8AF, UK
29Department of Neurology, University Hospital LeuvenLeuven, Belgium
30Laboratory for Neurobiology, Vesalius Research Center, VIB, University of Leuven, 3000 Leuven, Belgium
31Azienda Ospedaliera Città della Salute e della Scienza, 10126 Torino, Italy
32Department of Neuroscience, University of Torino, Torino, Italy
33Neuromuscular Diseases Research Group, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD 20892, USA
34Institute for Clinical Neurobiology, University Hospital Wurzburg, 97078 Wurzburg, Germany
35INSERM UMR-788 and University of Paris 11, Bicetre Hospital, Paris, Cedex 94275, France
36Assistance Publique - Hôpitaux de Paris, Université Pierre et Marie Curie, Hôpital de la Salpêtrière, 75013 Paris, France
37Academic Neurology Unit, Trinity Biomedical Sciences Institute, Trinity College Dublin, Dublin2, Ireland
38Department of Clinical Neuroscience, Umeå University, SE-901 85 Umeå, Sweden
39Brighton and Sussex Medical School, Trafford Centre for Biomedical Research, University of Sussex, Falmer East Sussex BN1 9RY, UK
40Department of Neurology, Emory University, Atlanta, GA 30322, USA,
41Department of Neurology, Rudolf Magnus Institute of Neuroscience, University Medical Centre Utrecht, 3508 GA Utrecht, The Netherlands
42Department of Medical and Molecular Genetics, King's College London, London SE1 9RT, UK.
43Department of Neurology, University of Massachusetts Medical School, Worcester, MA 01605, USA
44Division of General Neurology, IRCCS 'C. Mondino' National Institute of Neurology Foundation, 27100 Pavia, Italy

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Human Molecular Genetics

Tập 23 Số 8

2220-2231

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