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Genome-wide association study of REM sleep behavior disorder identifies polygenic risk and brain expression effects.
Krohn, Lynne; Heilbron, Karl; Blauwendraat, Cornelis; Reynolds, Regina H; Yu, Eric; Senkevich, Konstantin; Rudakou, Uladzislau; Estiar, Mehrdad A; Gustavsson, Emil K; Brolin, Kajsa; Ruskey, Jennifer A; Freeman, Kathryn; Asayesh, Farnaz; Chia, Ruth; Arnulf, Isabelle; Hu, Michele T M; Montplaisir, Jacques Y; Gagnon, Jean-François; Desautels, Alex; Dauvilliers, Yves; Gigli, Gian Luigi; Valente, Mariarosaria; Janes, Francesco; Bernardini, Andrea; Högl, Birgit; Stefani, Ambra; Ibrahim, Abubaker; Sonka, Karel; Kemlink, David; Oertel, Wolfgang; Janzen, Annette; Plazzi, Giuseppe; Biscarini, Francesco; Antelmi, Elena; Figorilli, Michela; Puligheddu, Monica; Mollenhauer, Brit; Trenkwalder, Claudia; Sixel-Döring, Friederike; Cochen De Cock, Valérie; Monaca, Christelle Charley; Heidbreder, Anna; Ferini-Strambi, Luigi; Dijkstra, Femke; Viaene, Mineke; Abril, Beatriz; Boeve, Bradley F; Scholz, Sonja W; Ryten, Mina; Bandres-Ciga, Sara.
Afiliação
  • Krohn L; Department of Human Genetics, McGill University, Montréal, QC, Canada.
  • Heilbron K; The Neuro (Montreal Neurological Institute-Hospital), McGill University, Montréal, QC, Canada.
  • Blauwendraat C; 23andMe, Inc., Sunnyvale, CA, USA.
  • Reynolds RH; Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA.
  • Yu E; Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, University College London, London, UK.
  • Senkevich K; Great Ormond Street Institute of Child Health, Genetics and Genomic Medicine, University College London, London, UK.
  • Rudakou U; Department of Human Genetics, McGill University, Montréal, QC, Canada.
  • Estiar MA; The Neuro (Montreal Neurological Institute-Hospital), McGill University, Montréal, QC, Canada.
  • Gustavsson EK; Department of Human Genetics, McGill University, Montréal, QC, Canada.
  • Brolin K; The Neuro (Montreal Neurological Institute-Hospital), McGill University, Montréal, QC, Canada.
  • Ruskey JA; Department of Human Genetics, McGill University, Montréal, QC, Canada.
  • Freeman K; The Neuro (Montreal Neurological Institute-Hospital), McGill University, Montréal, QC, Canada.
  • Asayesh F; Department of Human Genetics, McGill University, Montréal, QC, Canada.
  • Chia R; The Neuro (Montreal Neurological Institute-Hospital), McGill University, Montréal, QC, Canada.
  • Arnulf I; Great Ormond Street Institute of Child Health, Genetics and Genomic Medicine, University College London, London, UK.
  • Hu MTM; NIHR Great Ormond Street Hospital Biomedical Research Centre, University College London, London, UK.
  • Montplaisir JY; Lund University, Translational Neurogenetics Unit, Department of Experimental Medical Science, Lund, Sweden.
  • Gagnon JF; The Neuro (Montreal Neurological Institute-Hospital), McGill University, Montréal, QC, Canada.
  • Desautels A; The Neuro (Montreal Neurological Institute-Hospital), McGill University, Montréal, QC, Canada.
  • Dauvilliers Y; The Neuro (Montreal Neurological Institute-Hospital), McGill University, Montréal, QC, Canada.
  • Gigli GL; Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA.
  • Valente M; Sleep Disorders Unit, Pitié Salpêtrière Hospital, APHP-Sorbonne, Paris Brain Insitute and Sorbonne University, Paris, France.
  • Janes F; Oxford Parkinson's Disease Centre (OPDC), University of Oxford, Oxford, UK.
  • Bernardini A; Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK.
  • Högl B; Centre d'Études Avancées en Médecine du Sommeil, Hôpital du Sacré-Cœur de Montréal, Montréal, QC, Canada.
  • Stefani A; Department of Psychiatry, Université de Montréal, Montréal, QC, Canada.
  • Ibrahim A; Centre d'Études Avancées en Médecine du Sommeil, Hôpital du Sacré-Cœur de Montréal, Montréal, QC, Canada.
  • Sonka K; Department of Psychology, Université du Québec à Montréal, Montreal, QC, Canada.
  • Kemlink D; Centre d'Études Avancées en Médecine du Sommeil, Hôpital du Sacré-Cœur de Montréal, Montréal, QC, Canada.
  • Oertel W; Department of Neurosciences, Université de Montréal, Montréal, QC, Canada.
  • Janzen A; National Reference Center for Narcolepsy, Sleep Unit, Department of Neurology, Gui-de-Chauliac Hospital, CHU Montpellier, University of Montpellier, Institute Neuroscience Montpellier Inserm, Montpellier, France.
  • Plazzi G; Clinical Neurology Unit, Department of Neurosciences, University Hospital of Udine, Udine, Italy.
  • Biscarini F; Clinical Neurology Unit, Department of Neurosciences, University Hospital of Udine, Udine, Italy.
  • Antelmi E; Department of Medicine (DAME), University of Udine, Udine, Italy.
  • Figorilli M; Clinical Neurology Unit, Department of Neurosciences, University Hospital of Udine, Udine, Italy.
  • Puligheddu M; Clinical Neurology Unit, Department of Neurosciences, University Hospital of Udine, Udine, Italy.
  • Mollenhauer B; Sleep Disorders Clinic, Department of Neurology, Medical University of Innsbruck, Innsbruck, Austria.
  • Trenkwalder C; Sleep Disorders Clinic, Department of Neurology, Medical University of Innsbruck, Innsbruck, Austria.
  • Sixel-Döring F; Sleep Disorders Clinic, Department of Neurology, Medical University of Innsbruck, Innsbruck, Austria.
  • Cochen De Cock V; Department of Neurology and Centre of Clinical Neuroscience, Charles University, First Faculty of Medicine and General University Hospital, Prague, Czech Republic.
  • Monaca CC; Department of Neurology and Centre of Clinical Neuroscience, Charles University, First Faculty of Medicine and General University Hospital, Prague, Czech Republic.
  • Heidbreder A; Department of Neurology, Philipps-University, Marburg, Germany.
  • Ferini-Strambi L; Department of Neurology, Philipps-University, Marburg, Germany.
  • Dijkstra F; Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio-Emilia, Modena, Italy.
  • Viaene M; IRCCS, Institute of Neurological Sciences of Bologna, Bologna, Italy.
  • Abril B; Department of Biomedical and Neuromotor Sciences (DIBINEM), Alma Mater Studiorum, University of Bologna, Bologna, Italy.
  • Boeve BF; IRCCS, Institute of Neurological Sciences of Bologna, Bologna, Italy.
  • Scholz SW; Department of Medical Sciences and Public Health, Sleep Disorder Research Center, University of Cagliari, Cagliari, Italy.
  • Ryten M; Department of Medical Sciences and Public Health, Sleep Disorder Research Center, University of Cagliari, Cagliari, Italy.
  • Bandres-Ciga S; Paracelsus-Elena-Klinik, Kassel, Germany.
Nat Commun ; 13(1): 7496, 2022 12 05.
Article em En | MEDLINE | ID: mdl-36470867
ABSTRACT
Rapid-eye movement (REM) sleep behavior disorder (RBD), enactment of dreams during REM sleep, is an early clinical symptom of alpha-synucleinopathies and defines a more severe subtype. The genetic background of RBD and its underlying mechanisms are not well understood. Here, we perform a genome-wide association study of RBD, identifying five RBD risk loci near SNCA, GBA, TMEM175, INPP5F, and SCARB2. Expression analyses highlight SNCA-AS1 and potentially SCARB2 differential expression in different brain regions in RBD, with SNCA-AS1 further supported by colocalization analyses. Polygenic risk score, pathway analysis, and genetic correlations provide further insights into RBD genetics, highlighting RBD as a unique alpha-synucleinopathy subpopulation that will allow future early intervention.
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Doença de Parkinson / Transtorno do Comportamento do Sono REM / Sinucleinopatias Idioma: En Ano de publicação: 2022 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Doença de Parkinson / Transtorno do Comportamento do Sono REM / Sinucleinopatias Idioma: En Ano de publicação: 2022 Tipo de documento: Article