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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; [...]

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

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  • Medientyp: E-Artikel
  • Titel: Genome-wide association study of REM sleep behavior disorder identifies polygenic risk and brain expression effects
  • Beteiligte: 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; [...]
  • Erschienen: Springer Science and Business Media LLC, 2022
  • Erschienen in: Nature Communications
  • Sprache: Englisch
  • DOI: 10.1038/s41467-022-34732-5
  • ISSN: 2041-1723
  • Schlagwörter: General Physics and Astronomy ; General Biochemistry, Genetics and Molecular Biology ; General Chemistry ; Multidisciplinary
  • Entstehung:
  • Anmerkungen:
  • Beschreibung: <jats:title>Abstract</jats:title><jats:p>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 <jats:italic>SNCA, GBA, TMEM175, INPP5F, and SCARB2</jats:italic>. Expression analyses highlight <jats:italic>SNCA-AS1</jats:italic> and potentially <jats:italic>SCARB2</jats:italic> differential expression in different brain regions in RBD, with <jats:italic>SNCA-AS1</jats:italic> 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.</jats:p>
  • Zugangsstatus: Freier Zugang