Genome-wide association study of REM sleep behavior disorder identifies polygenic risk and brain expression effects
2022 | journal article. A publication with affiliation to the University of Göttingen.
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Genome-wide association study of REM sleep behavior disorder identifies polygenic risk and brain expression effects
Krohn, L.; Heilbron, K.; Blauwendraat, C.; Reynolds, R. H.; Yu, E.; Senkevich, K. & Rudakou, U. et al. (2022)
Nature Communications, 13(1). DOI: https://doi.org/10.1038/s41467-022-34732-5
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Details
- Authors Group
- 23andMe Research Team
The authors list is uncomplete: - Authors
- Krohn, Lynne; Heilbron, Karl; Blauwendraat, Cornelis; Reynolds, Regina H.; Yu, Eric; Senkevich, Konstantin; Rudakou, Uladzislau; Estiar, Mehrdad A.; Gustavsson, Emil K.; Brolin, Kajsa; Gan-Or, Ziv
- Abstract
- 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.
- Issue Date
- 2022
- Journal
- Nature Communications
- eISSN
- 2041-1723
- Language
- English
- Sponsor
- Michael J. Fox Foundation for Parkinson’s Research https://doi.org/10.13039/100000864
Parkinson Canada https://doi.org/10.13039/501100009307
Fonds de Recherche du Québec-Société et Culture https://doi.org/10.13039/100008240
Foundation for the National Institutes of Health https://doi.org/10.13039/100000009
Michael J. Fox Foundation for Parkinson’s Research