2022

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

Auteurs:

Krohn, L., Heilbron, K., Blauwendraat, C., Reynolds, R.H., Yu, E., Senkevich, K., Rudakou, U., Estiar, M.A., Gustavsson, E.K., Brolin, K., Ruskey, J.A., Freeman, K., Asayesh, F., Chia, R., Arnulf, I., Hu, M.T.M., Montplaisir, J.Y., Gagnon, J.F.*, Desautels, A.*, Dauvilliers, Y., Gigli, G.L., Valente, M., Janes, F., Bernardini, A., Högl, B., Stefani, A., Ibrahim, A., Šonka, K., Kemlink, D., Oertel, W., Janzen, A., Plazzi, G., Biscarini, F., 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., Dijkstra, F., Viaene, M., Abril, B., Boeve, B.F., 23andMe Research Team, Scholz, S.W., Ryten, M., Bandres-Ciga, S., Noyce, A., Cannon, P., Pihlstrøm, L., Nalls, M.A., Singleton, A.B., Rouleau, G.A.*, Postuma, R.B., Gan-Or, Z.*

Revue:

Nature Communications

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.

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