Genome-wide association study of REM sleep behavior disorder identifies novel loci with distinct polygenic and brain expression effects
Regina H. Reynolds,
Mehrdad A. Estiar,
Jennifer A. Ruskey,
Michele T.M. Hu,
Jacques Y. Montplaisir,
Gian Luigi Gigli,
Valérie Cochen de Cock,
Christelle Charley Monaca,
Bradley F. Boeve,
Sonja W. Scholz,
Sara Bandres Ciga,
Mike A Nalls,
Andrew B. Singleton,
Guy A. Rouleau,
Ronald B. Postuma,
Posted 13 Sep 2021
medRxiv DOI: 10.1101/2021.09.08.21254232
Posted 13 Sep 2021
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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