期刊
NATURE COMMUNICATIONS
卷 13, 期 1, 页码 -出版社
NATURE PORTFOLIO
DOI: 10.1038/s41467-022-34732-5
关键词
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资金
- Michael J. Fox Foundation [MJFF-020700]
- Fonds de recherche du Quebec (Doctoral Training Award)
- Parkinson Canada
- Canadian Consortium on Neurodegeneration in Aging
- Canada First Research Excellence Fund (CFREF)
- Intramural Research Program of the National Institute on Aging (NIA), National Institutes of Health, Department of Health and Human Services [ZO1 AG000535]
- National Institute of Neurological Disorders and Stroke
The study identifies five RBD risk loci and highlights the differential expression of SNCA-AS1 and SCARB2 genes in different brain regions. These findings provide further insights into the genetics of RBD and its potential for early intervention.
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. REM-sleep behavior disorder often precedes Parkinson's disease or dementia. Here, the authors perform a genome-wide association study for REM-sleep behavior disorder, and discover how it potentially affects gene expression in the brain.
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