Медицинская библиотека · Nature communications · 2022

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, Estiar Mehrdad A, Gustavsson Emil K, Brolin Kajsa, Ruskey Jennifer A, Freeman Kathryn, Asayesh Farnaz, Chia Ruth, Arnulf Isabelle, Hu Michele T M, Montplaisir Jacques Y, Gagnon Jean-François, Desautels Alex, Dauvilliers Yves, Gigli Gian Luigi, Valente Mariarosaria, Janes Francesco, Bernardini Andrea, Högl Birgit, Stefani Ambra, Ibrahim Abubaker, Šonka Karel, Kemlink David, Oertel Wolfgang, Janzen Annette, Plazzi Giuseppe, Biscarini Francesco, Antelmi Elena, Figorilli Michela, Puligheddu Monica, Mollenhauer Brit, Trenkwalder Claudia, Sixel-Döring Friederike, Cochen De Cock Valérie, Monaca Christelle Charley, Heidbreder Anna, Ferini-Strambi Luigi, Dijkstra Femke, Viaene Mineke, Abril Beatriz, Boeve Bradley F, 23andMe Research Team, Scholz Sonja W, Ryten Mina, Bandres-Ciga Sara, Noyce Alastair, Cannon Paul, Pihlstrøm Lasse, Nalls Mike A, Singleton Andrew B, Rouleau Guy A, Postuma Ronald B, Gan-Or Ziv

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Аннотация

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.

Для цитирования: Krohn Lynne, Heilbron Karl, Blauwendraat Cornelis, Reynolds Regina H, Yu Eric, Senkevich Konstantin, Rudakou Uladzislau, Estiar Mehrdad A, Gustavsson Emil K, Brolin Kajsa, Ruskey Jennifer A, Freeman Kathryn, Asayesh Farnaz, Chia Ruth, Arnulf Isabelle, Hu Michele T M, Montplaisir Jacques Y, Gagnon Jean-François, Desautels Alex, Dauvilliers Yves, Gigli Gian Luigi, Valente Mariarosaria, Janes Francesco, Bernardini Andrea, Högl Birgit, Stefani Ambra, Ibrahim Abubaker, Šonka Karel, Kemlink David, Oertel Wolfgang, Janzen Annette, Plazzi Giuseppe, Biscarini Francesco, Antelmi Elena, Figorilli Michela, Puligheddu Monica, Mollenhauer Brit, Trenkwalder Claudia, Sixel-Döring Friederike, Cochen De Cock Valérie, Monaca Christelle Charley, Heidbreder Anna, Ferini-Strambi Luigi, Dijkstra Femke, Viaene Mineke, Abril Beatriz, Boeve Bradley F, 23andMe Research Team, Scholz Sonja W, Ryten Mina, Bandres-Ciga Sara, Noyce Alastair, Cannon Paul, Pihlstrøm Lasse, Nalls Mike A, Singleton Andrew B, Rouleau Guy A, Postuma Ronald B, Gan-Or Ziv. Genome-wide association study of REM sleep behavior disorder identifies polygenic risk and brain expression effects.. Nature communications. 2022. DOI: 10.1038/s41467-022-34732-5.

Предметные рубрики MeSH

Humans REM Sleep Behavior Disorder Genome-Wide Association Study Parkinson Disease Synucleinopathies Brain

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