Analysis of the KIFAP3 gene in amyotrophic lateral sclerosis: a multicenter survival study.

Autor: van Doormaal PT; Department of Neurology, University Medical Center Utrecht, Rudolf Magnus Institute of Neuroscience, Utrecht, the Netherlands., Ticozzi N; Unit of Neurology and Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, Milan, Italy; Department of Pathophysiology and Transplantation, 'Dino Ferrari' Center, Università degli Studi di Milano, Milan, Italy., Gellera C; Unit of Genetics of Neurodegenerative and Metabolic Diseases, IRCCS Carlo Besta Neurological Institute, Milan, Italy., Ratti A; Unit of Neurology and Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, Milan, Italy; Department of Pathophysiology and Transplantation, 'Dino Ferrari' Center, Università degli Studi di Milano, Milan, Italy., Taroni F; Unit of Genetics of Neurodegenerative and Metabolic Diseases, IRCCS Carlo Besta Neurological Institute, Milan, Italy., Chiò A; 'Rita Levi Montalcini' Department of Neuroscience, University of Turin, Turin, Italy., Calvo A; 'Rita Levi Montalcini' Department of Neuroscience, University of Turin, Turin, Italy., Mora G; ALS Center, Salvatore Maugeri Foundation, IRCSS, Milan, Italy., Restagno G; Laboratory of Molecular Genetics, Città della Salute e della Scienza Hospital, Turin, Italy., Traynor BJ; Neuromuscular Diseases Research Group, Laboratory of Neurogenetics, National Institute on Aging, Bethesda, MD, USA., Birve A; The Institute of Pharmacology and Clinical Neuroscience, Umeå University, Umeå, Sweden., Lemmens R; Leuven Institute for Neurodegenerative Disorders (LIND), University of Leuven, Leuven, Belgium; Vesalius Research Center Center (VRC), Flanders Institute for Biotechnology (VIB), Leuven, Belgium; Department of Clinical and Experimental Neurology, University Hospital Leuven, University of Leuven, Leuven, Belgium., van Es MA; Department of Neurology, University Medical Center Utrecht, Rudolf Magnus Institute of Neuroscience, Utrecht, the Netherlands., Saris CG; Department of Neurology, University Medical Center Utrecht, Rudolf Magnus Institute of Neuroscience, Utrecht, the Netherlands., Blauw HM; Department of Neurology, University Medical Center Utrecht, Rudolf Magnus Institute of Neuroscience, Utrecht, the Netherlands., van Vught PW; Department of Neurology, University Medical Center Utrecht, Rudolf Magnus Institute of Neuroscience, Utrecht, the Netherlands., Groen EJ; Department of Neurology, University Medical Center Utrecht, Rudolf Magnus Institute of Neuroscience, Utrecht, the Netherlands., Corrado L; Department of Health Sciences and Interdisciplinary Research Center of Autoimmune Diseases (IRCAD), University of Eastern Piedmont, Novara, Italy., Mazzini L; Department of Neurology, A. Avogadro University and Maggiore della Carità Hospital, Novara, Italy., Del Bo R; Department of Pathophysiology and Transplantation, 'Dino Ferrari' Center, Università degli Studi di Milano, Milan, Italy; Neurologic Unit, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy., Corti S; Department of Pathophysiology and Transplantation, 'Dino Ferrari' Center, Università degli Studi di Milano, Milan, Italy; Neurologic Unit, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy., Waibel S; Department of Neurology, University of Ulm, Ulm, Germany., Meyer T; Department of Neurology, Charité University Hospital, Humboldt-University, Berlin, Germany., Ludolph AC; Department of Neurology, University of Ulm, Ulm, Germany., Goris A; Leuven Institute for Neurodegenerative Disorders (LIND), University of Leuven, Leuven, Belgium; Laboratory for Neuroimmunology, Section for Experimental Neurology, KU Leuven, Leuven, Belgium., van Damme P; Leuven Institute for Neurodegenerative Disorders (LIND), University of Leuven, Leuven, Belgium; Vesalius Research Center Center (VRC), Flanders Institute for Biotechnology (VIB), Leuven, Belgium; Department of Clinical and Experimental Neurology, University Hospital Leuven, University of Leuven, Leuven, Belgium., Robberecht W; Leuven Institute for Neurodegenerative Disorders (LIND), University of Leuven, Leuven, Belgium; Vesalius Research Center Center (VRC), Flanders Institute for Biotechnology (VIB), Leuven, Belgium; Department of Clinical and Experimental Neurology, University Hospital Leuven, University of Leuven, Leuven, Belgium., Shatunov A; Department of Clinical Neuroscience, King's College London, Institute of Psychiatry, London, UK., Fogh I; Department of Clinical Neuroscience, King's College London, Institute of Psychiatry, London, UK., Andersen PM; The Institute of Pharmacology and Clinical Neuroscience, Umeå University, Umeå, Sweden., D'Alfonso S; Department of Health Sciences and Interdisciplinary Research Center of Autoimmune Diseases (IRCAD), University of Eastern Piedmont, Novara, Italy., Hardiman O; Trinity College Institute of Neurosciences, Trinity College, Dublin, Ireland; Department of Neurology, Beaumont Hospital, Dublin, Ireland., Cronin S; Department of Neurology, Beaumont Hospital, Dublin, Ireland; Department of Clinical Neurological Sciences, Royal College of Surgeons in Ireland, Dublin, Ireland., Rujescu D; Department of Psychiatry, University of Halle, Halle, Germany., Al-Chalabi A; Department of Clinical Neuroscience, King's College London, Institute of Psychiatry, London, UK., Landers JE; Department of Neurology, University of Massachusetts Medical School, Worcester, MA, USA., Silani V; Unit of Neurology and Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, Milan, Italy; Department of Pathophysiology and Transplantation, 'Dino Ferrari' Center, Università degli Studi di Milano, Milan, Italy., van den Berg LH; Department of Neurology, University Medical Center Utrecht, Rudolf Magnus Institute of Neuroscience, Utrecht, the Netherlands., Veldink JH; Department of Neurology, University Medical Center Utrecht, Rudolf Magnus Institute of Neuroscience, Utrecht, the Netherlands. Electronic address: j.h.veldink@umcutrecht.nl.
Jazyk: angličtina
Zdroj: Neurobiology of aging [Neurobiol Aging] 2014 Oct; Vol. 35 (10), pp. 2420.e13-4. Date of Electronic Publication: 2014 Apr 19.
DOI: 10.1016/j.neurobiolaging.2014.04.014
Abstrakt: Sporadic amyotrophic lateral sclerosis is a multifactorial disease of environmental and genetic origin. In a previous large multicenter genome wide study, common genetic variation in the Kinesin-Associated Protein 3 (KIFAP3) gene (rs1541160) was reported to have a significant effect on survival in amyotrophic lateral sclerosis patients. However, this could not be replicated in 3 smaller independent cohorts. We conducted a large multicenter multivariate survival analysis (n = 2362) on the effect of genetic variation in rs1541160. The previously reported beneficial genotype did not show a significant improvement in survival in this patient group.
(Copyright © 2014 Elsevier Inc. All rights reserved.)
Databáze: MEDLINE
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