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

Krohn, Lynne; Heilbron, Karl; Blauwendraat, Cornelis; Reynolds, Regina H; Yu, Eric; Senkevich, Konstantin; Rudakou, Uladzislau; ... Gan-Or, Ziv; + view all (2022) Genome-wide association study of REM sleep behavior disorder identifies polygenic risk and brain expression effects. Nature Communications , 13 , Article 7496. 10.1038/s41467-022-34732-5. Green open access

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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.

Type: Article
Title: Genome-wide association study of REM sleep behavior disorder identifies polygenic risk and brain expression effects
Location: England
Open access status: An open access version is available from UCL Discovery
DOI: 10.1038/s41467-022-34732-5
Publisher version: https://doi.org/10.1038/s41467-022-34732-5
Language: English
Additional information: This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health > Genetics and Genomic Medicine Dept
URI: https://discovery.ucl.ac.uk/id/eprint/10161514
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