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Genome-wide association study of REM sleep behavior disorder identifies novel loci with distinct polygenic and brain expression effects

Krohn, L.; Heilbron, K.; Blauwendraat, C.; Reynolds, R. H.; Yu, E.; Senkevich, K.; Rudakou, U.; Estiar, M. A.; Gustavsson, E.; Brolin, K.; Ruskey, J. A.; Freeman, K.; Asayesh, F.; Chia, R.; Arnulf, I.; Hu, M. T. M.; Montplaisir, J. Y.; Trempe, J.-F.; Desautels, A.; Dauvilliers, Y.; Gigli, G. L.; Valente, M.; Janes, F.; Bernardini, A.; Högl, B.; Stefani, A.; Ibrahim, A.; Sonka, K.; Kemlink, D.; Oertel, W.; Janzen, A.; Plazzi, G.; Antelmi, E.; Figorilli, M.; Puligheddu, M.; Mollenhauer, B.; Trenkwalder, C.; Sixel-Döring, F.; Cochen de Cock, V.; Monaca, C. C.; Heidbreder, A.; Ferini-Strambi, L.

2021-09-13 genetic and genomic medicine
10.1101/2021.09.08.21254232 medRxiv
Show 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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