Institutional Research Information Service
UCL Logo
Please report any queries concerning the funding data grouped in the sections named "Externally Awarded" or "Internally Disbursed" (shown on the profile page) to your Research Finance Administrator. Your can find your Research Finance Administrator at https://www.ucl.ac.uk/finance/research/rs-contacts.php by entering your department
Please report any queries concerning the student data shown on the profile page to:

Email: portico-services@ucl.ac.uk

Help Desk: http://www.ucl.ac.uk/ras/portico/helpdesk
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:
  • Status:
  • Keyword:
    23andMe Research Team


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.
Publication data is maintained in RPS. Visit https://rps.ucl.ac.uk
 More search options
UCL Researchers Show More
Genetics & Genomic Medicine Dept
UCL Queen Square Institute of Neurology
Genetics & Genomic Medicine Dept
Genetics & Genomic Medicine Dept
University College London - Gower Street - London - WC1E 6BT Tel:+44 (0)20 7679 2000

© UCL 1999–2011

Search by