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Publication Detail
Genome-wide association study of REM sleep behavior disorder identifies novel loci with distinct polygenic and brain expression effects
  • Publication Type:
    Working discussion paper
  • Authors:
    Krohn L, Heilbron K, Blauwendraat C, Reynolds R, Yu E, Senkevich K, Rudakou U, Estiar M, Gustavsson E, Brolin K, Ruskey J, Freeman K, Asayesh F, Chia R, Arnulf I, Hu MTM, Montplaisir J, Gagnon J-F, Desautels A, Dauvilliers Y, Gigli GL, Valente M, Janes F, Bernardini A, Högl B, Stefani A, Ibrahim A, Sonka K, Kemlink D, Oertel W, Janzen A, Plazzi G, Biscarini F, Antelmi E, Figorilli M, Puligheddu M, Mollenhauer B, Trenkwalder C, Sixel-Döring F, De Cock VC, Monaca CC, Heidbreder A, Ferini-Strambi L, Dijkstra F, Viaene M, Abril B, Boeve B, Scholz S, Ryten M, Bandres-Ciga S, Noyce A, Cannon P, Pihlstrøm L, Nalls M, Singleton A, Rouleau G, Postuma R, Gan-Or Z, 23andMe Research Team
  • Publication date:
    13/09/2021
  • Status:
    Published
  • Keyword:
    23andMe Research Team
Abstract

ABSTRACT

Rapid eye movement (REM) sleep behavior disorder (RBD), enactment of dreams during REM sleep, is an early clinical symptom of alpha-synucleinopathies. RBD also defines more severe forms of alpha-synucleinopathies. The genetic background of RBD and its underlying mechanisms are not well understood. Here, we performed the first genome-wide association study of RBD, identifying five RBD risk loci. Expression analyses highlight SNCA-AS1 and SCARB2 differential expression in different brain regions in RBD, with SNCA-AS1 further supported by colocalization analyses. Genetic risk score and other analyses provide further insights into RBD genetics, highlighting RBD as a unique subpopulation that will allow future early intervention.
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Genetics & Genomic Medicine Dept
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UCL Queen Square Institute of Neurology
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Genetics & Genomic Medicine Dept
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Genetics & Genomic Medicine Dept
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