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Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology.
van Rheenen, Wouter; van der Spek, Rick A A; Bakker, Mark K; van Vugt, Joke J F A; Hop, Paul J; Zwamborn, Ramona A J; de Klein, Niek; Westra, Harm-Jan; Bakker, Olivier B; Deelen, Patrick; Shireby, Gemma; Hannon, Eilis; Moisse, Matthieu; Baird, Denis; Restuadi, Restuadi; Dolzhenko, Egor; Dekker, Annelot M; Gawor, Klara; Westeneng, Henk-Jan; Tazelaar, Gijs H P; van Eijk, Kristel R; Kooyman, Maarten; Byrne, Ross P; Doherty, Mark; Heverin, Mark; Al Khleifat, Ahmad; Iacoangeli, Alfredo; Shatunov, Aleksey; Ticozzi, Nicola; Cooper-Knock, Johnathan; Smith, Bradley N; Gromicho, Marta; Chandran, Siddharthan; Pal, Suvankar; Morrison, Karen E; Shaw, Pamela J; Hardy, John; Orrell, Richard W; Sendtner, Michael; Meyer, Thomas; Basak, Nazli; van der Kooi, Anneke J; Ratti, Antonia; Fogh, Isabella; Gellera, Cinzia; Lauria, Giuseppe; Corti, Stefania; Cereda, Cristina; Sproviero, Daisy; D'Alfonso, Sandra.
Afiliação
  • van Rheenen W; Department of Neurology, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands. w.vanrheenen-2@umcutrecht.nl.
  • van der Spek RAA; Department of Neurology, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands.
  • Bakker MK; Department of Neurology, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands.
  • van Vugt JJFA; Department of Neurology, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands.
  • Hop PJ; Department of Neurology, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands.
  • Zwamborn RAJ; Department of Neurology, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands.
  • de Klein N; Department of Genetics, University of Groningen, University Medical Centre Groningen, Groningen, the Netherlands.
  • Westra HJ; Department of Genetics, University of Groningen, University Medical Centre Groningen, Groningen, the Netherlands.
  • Bakker OB; Department of Genetics, University of Groningen, University Medical Centre Groningen, Groningen, the Netherlands.
  • Deelen P; Department of Genetics, University of Groningen, University Medical Centre Groningen, Groningen, the Netherlands.
  • Shireby G; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands.
  • Hannon E; University of Exeter Medical School, College of Medicine and Health, University of Exeter, Exeter, UK.
  • Moisse M; University of Exeter Medical School, College of Medicine and Health, University of Exeter, Exeter, UK.
  • Baird D; Department of Neurosciences, Experimental Neurology and Leuven Brain Institute (LBI), KU Leuven-University of Leuven, Leuven, Belgium.
  • Restuadi R; Laboratory of Neurobiology, VIB, Center for Brain & Disease Research, Leuven, Belgium.
  • Dolzhenko E; Department of Neurology, University Hospitals Leuven, Leuven, Belgium.
  • Dekker AM; Translational Biology, Biogen, Boston, MA, USA.
  • Gawor K; MRC Integrative Epidemiology Unit (IEU), Population Health Sciences, University of Bristol, Bristol, UK.
  • Westeneng HJ; Institute for Molecular Bioscience, University of Queensland, Brisbane, Queensland, Australia.
  • Tazelaar GHP; Illumina, San Diego, CA, USA.
  • van Eijk KR; Department of Neurology, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands.
  • Kooyman M; Department of Neurology, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands.
  • Byrne RP; Department of Neurology, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands.
  • Doherty M; Department of Neurology, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands.
  • Heverin M; Department of Neurology, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands.
  • Al Khleifat A; Department of Neurology, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands.
  • Iacoangeli A; Complex Trait Genomics Laboratory, Smurfit Institute of Genetics, Trinity College Dublin, Dublin, Ireland.
  • Shatunov A; Complex Trait Genomics Laboratory, Smurfit Institute of Genetics, Trinity College Dublin, Dublin, Ireland.
  • Ticozzi N; Academic Unit of Neurology, Trinity Biomedical Sciences Institute, Trinity College Dublin, Dublin, Ireland.
  • Cooper-Knock J; Maurice Wohl Clinical Neuroscience Institute, Department of Basic and Clinical Neuroscience, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK.
  • Smith BN; Maurice Wohl Clinical Neuroscience Institute, Department of Basic and Clinical Neuroscience, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK.
  • Gromicho M; Department of Biostatistics and Health Informatics, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK.
  • Chandran S; National Institute for Health Research Biomedical Research Centre and Dementia Unit, South London and Maudsley NHS Foundation Trust and King's College London, London, UK.
  • Pal S; Maurice Wohl Clinical Neuroscience Institute, Department of Basic and Clinical Neuroscience, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK.
  • Morrison KE; Department of Neurology, Stroke Unit and Laboratory of Neuroscience, Istituto Auxologico Italiano IRCCS, Milan, Italy.
  • Shaw PJ; Department of Pathophysiology and Transplantation, 'Dino Ferrari' Center, Università degli Studi di Milano, Milan, Italy.
  • Hardy J; Sheffield Institute for Translational Neuroscience (SITraN), University of Sheffield, Sheffield, UK.
  • Orrell RW; Maurice Wohl Clinical Neuroscience Institute, Department of Basic and Clinical Neuroscience, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK.
  • Sendtner M; Instituto de Fisiologia, Instituto de Medicina Molecular João Lobo Antunes, Faculdade de Medicina, Universidade de Lisboa, Lisbon, Portugal.
  • Meyer T; Euan MacDonald Centre for Motor Neurone Disease Research, Edinburgh, UK.
  • Basak N; UK Dementia Research Institute, University of Edinburgh, Edinburgh, UK.
  • van der Kooi AJ; Euan MacDonald Centre for Motor Neurone Disease Research, Edinburgh, UK.
  • Ratti A; UK Dementia Research Institute, University of Edinburgh, Edinburgh, UK.
  • Fogh I; School of Medicine, Dentistry and Biomedical Sciences, Queen's University Belfast, Belfast, UK.
  • Gellera C; Sheffield Institute for Translational Neuroscience (SITraN), University of Sheffield, Sheffield, UK.
  • Lauria G; Department of Molecular Neuroscience, Institute of Neurology, University College London, London, UK.
  • Corti S; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, UK.
  • Cereda C; Institute of Clinical Neurobiology, University Hospital Würzburg, Würzburg, Germany.
  • Sproviero D; Charité University Hospital, Humboldt University, Berlin, Germany.
  • D'Alfonso S; Koç University, School of Medicine, KUTTAM-NDAL, Istanbul, Turkey.
Nat Genet ; 53(12): 1636-1648, 2021 12.
Article em En | MEDLINE | ID: mdl-34873335
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Estudo de Associação Genômica Ampla / Esclerose Lateral Amiotrófica / Mutação / Neurônios Tipo de estudo: Clinical_trials / Etiology_studies / Prognostic_studies / Risk_factors_studies / Systematic_reviews Limite: Female / Humans / Male Idioma: En Revista: Nat Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Holanda
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Estudo de Associação Genômica Ampla / Esclerose Lateral Amiotrófica / Mutação / Neurônios Tipo de estudo: Clinical_trials / Etiology_studies / Prognostic_studies / Risk_factors_studies / Systematic_reviews Limite: Female / Humans / Male Idioma: En Revista: Nat Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Holanda