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Pracoviště: The Neuro McGill University Montréal QC Canada

1 záznamů v Medvik Filtry

Článek

Genome-wide association study of REM sleep behavior disorder identifies polygenic risk and brain expression effects

Krohn, Lynne
Autor Krohn, Lynne Department of Human Genetics, McGill University, Montréal, QC, Canada The Neuro (Montreal Neurological Institute-Hospital), McGill University, Montréal, QC, Canada
Heilbron, Karl
Autor Heilbron, Karl andMe, Inc., Sunnyvale, CA, USA
Blauwendraat, Cornelis
Autor Blauwendraat, Cornelis ORCID Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA
Reynolds, Regina H
Autor Reynolds, Regina H ORCID Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, University College London, London, UK Great Ormond Street Institute of Child Health, Genetics and Genomic Medicine, University College London, London, UK
Yu, Eric
Autor Yu, Eric ORCID Department of Human Genetics, McGill University, Montréal, QC, Canada The Neuro (Montreal Neurological Institute-Hospital), McGill University, Montréal, QC, Canada
Senkevich, Konstantin
Autor Senkevich, Konstantin Department of Human Genetics, McGill University, Montréal, QC, Canada The Neuro (Montreal Neurological Institute-Hospital), McGill University, Montréal, QC, Canada
Rudakou, Uladzislau
Autor Rudakou, Uladzislau Department of Human Genetics, McGill University, Montréal, QC, Canada The Neuro (Montreal Neurological Institute-Hospital), McGill University, Montréal, QC, Canada
Estiar, Mehrdad A
Autor Estiar, Mehrdad A Department of Human Genetics, McGill University, Montréal, QC, Canada The Neuro (Montreal Neurological Institute-Hospital), McGill University, Montréal, QC, Canada
Gustavsson, Emil K
Autor Gustavsson, Emil K ORCID Great Ormond Street Institute of Child Health, Genetics and Genomic Medicine, University College London, London, UK NIHR Great Ormond Street Hospital Biomedical Research Centre, University College London, London, UK
Brolin, Kajsa
Autor Brolin, Kajsa Lund University, Translational Neurogenetics Unit, Department of Experimental Medical Science, Lund, Sweden

Nature communications. 2022 ; 13 (1) : 7496. [pub] 20221205

Nat Commun
ISSN 2041-1723
Medvik
Zdroj

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.

MeSH
celogenomová asociační studie MeSH
lidé MeSH
mozek MeSH
Parkinsonova nemoc * genetika MeSH
porucha chování v REM spánku * genetika MeSH
synukleinopatie * MeSH
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lidé MeSH
Publikační typ
časopisecké články MeSH
práce podpořená grantem MeSH

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