ArticleNature communications2022
Genome-wide association study of REM sleep behavior disorder identifies polygenic risk and brain expression effects.
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In one paragraph
Article in Nature communications, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 60 papers, 1 of them a synthesis that pooled it.
0numbers the graph read from it
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60citing papers in PubMed, 1 pooled it
9.6field-weighted citation impact, top 1% of its field
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Who cites it
60 citing papers in PubMed, 1 synthesis or guideline pooled it, 83 citations in OpenAlex.
- Interrogating DNA methylation associated with Lewy body pathology in a cross brain-region and multi-cohort study.Nature communications · 2026Pooled it
- Brain-first and body-first subtypes of Lewy body disease.Nature reviews. Neurology · 2026Review
- Safety and Efficacy of Idebenone in Isolated Rapid Eye Movement Sleep Behavior Disorder: A 3-Year Randomized Controlled Pilot Trial.Movement disorders : official journal of the Movement Disorder Society · 2026Article
- Overexpression of phosphorylated and truncated α-Synuclein does not trigger Parkinsonian readouts in A53T-SNCA mice.NPJ Parkinson's disease · 2026Article
- A genome-wide association study of young onset Parkinson's disease in European ancestry.medRxiv : the preprint server for health sciences · 2026Article
- The Global Parkinson's Genetics Program (GP2): Advancing genetic discovery and capacity building worldwide.Journal of Parkinson's disease · 2026Review
- Exercise Intervention for REM Sleep Behavior Disorder in Parkinson's Disease: Mechanisms and Implications for Neurorehabilitation.CNS neuroscience & therapeutics · 2026Review
- Genome-wide association and population-tailored polygenic risk for Parkinson's disease in Taiwan.NPJ Parkinson's disease · 2026Article
- Genetic associations between post-traumatic stress disorder and REM-sleep behavior disorder.NPJ Parkinson's disease · 2026Article
- Multi-organ imaging and genetics show the impact of sleep patterns on the human brain and body.Communications medicine · 2026Article
- Regional gene expression and brain atrophy in dementia with Lewy bodies: an imaging transcriptomics study.NPJ Parkinson's disease · 2026Article
- Novel associations of VPS13C with phenotype and conversion of idiopathic REM sleep behavior disorder.NPJ Parkinson's disease · 2026Article
- Shared Pathogenic Pathways Between REM Sleep Behavior Disorder and Neurodegenerative and Psychiatric Disorders.medRxiv : the preprint server for health sciences · 2026Article
- Prosaposin in CNS health and disease, metabolic stress and exercise adaptation.Journal of molecular medicine (Berlin, Germany) · 2026Review
- Lack of genetic evidence for a role of SLC25A46 in alpha-synucleinopathies.medRxiv : the preprint server for health sciences · 2026Article
- Mendelian Randomization Analysis of the Brain, Cerebrospinal Fluid, and Plasma Proteome Identifies a Potential Peripheral Biomarker for Isolated REM Sleep Behavior Disorder.Journal of molecular neuroscience : MN · 2026Article
- Targeting TMEM175 in Lysosomal Physiology and Human Diseases.Current stem cell research & therapy · 2026Review
- Repurposing dipeptidyl peptidase-4 inhibitor for Parkinson's disease prevention: A drug-target Mendelian randomization study.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2026Article
- Identification of potential causal-genes-relevant blood pressure: a mitochondria-related genome-wide Mendelian randomization study.Journal of human hypertension · 2026Article
- No evidence for genetic role of the tumor necrosis factor pathway in Parkinson's disease.NPJ Parkinson's disease · 2025Article
Corrections and comments
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Authors and funding
59 authors at 20 institutions in 11 countries.
Lynne KrohnDepartment of Human Genetics, McGill University, Montréal, QC, Canada.
Karl Heilbron23andMe, Inc., Sunnyvale, CA, USA.
Cornelis BlauwendraatLaboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA.ORCID 0000-0001-9358-8111
Regina H ReynoldsDepartment of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, University College London, London, UK.ORCID 0000-0001-6470-7919
Eric YuDepartment of Human Genetics, McGill University, Montréal, QC, Canada.ORCID 0000-0003-3525-4564
Konstantin SenkevichDepartment of Human Genetics, McGill University, Montréal, QC, Canada.
Uladzislau RudakouDepartment of Human Genetics, McGill University, Montréal, QC, Canada.
Mehrdad A EstiarDepartment of Human Genetics, McGill University, Montréal, QC, Canada.
Emil K GustavssonGreat Ormond Street Institute of Child Health, Genetics and Genomic Medicine, University College London, London, UK.ORCID 0000-0003-0541-7537
Kajsa BrolinLund University, Translational Neurogenetics Unit, Department of Experimental Medical Science, Lund, Sweden.
Jennifer A RuskeyThe Neuro (Montreal Neurological Institute-Hospital), McGill University, Montréal, QC, Canada.
Kathryn FreemanThe Neuro (Montreal Neurological Institute-Hospital), McGill University, Montréal, QC, Canada.ORCID 0000-0002-7329-3348
Farnaz AsayeshThe Neuro (Montreal Neurological Institute-Hospital), McGill University, Montréal, QC, Canada.
Ruth ChiaLaboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA.ORCID 0000-0002-4709-7423
Isabelle ArnulfSleep Disorders Unit, Pitié Salpêtrière Hospital, APHP-Sorbonne, Paris Brain Insitute and Sorbonne University, Paris, France.ORCID 0000-0002-2240-2516
Michele T M HuOxford Parkinson's Disease Centre (OPDC), University of Oxford, Oxford, UK.
Jacques Y MontplaisirCentre d'Études Avancées en Médecine du Sommeil, Hôpital du Sacré-Cœur de Montréal, Montréal, QC, Canada.
Jean-François GagnonCentre d'Études Avancées en Médecine du Sommeil, Hôpital du Sacré-Cœur de Montréal, Montréal, QC, Canada.
Alex DesautelsCentre d'Études Avancées en Médecine du Sommeil, Hôpital du Sacré-Cœur de Montréal, Montréal, QC, Canada.
Yves DauvilliersNational Reference Center for Narcolepsy, Sleep Unit, Department of Neurology, Gui-de-Chauliac Hospital, CHU Montpellier, University of Montpellier, Institute Neuroscience Montpellier Inserm, Montpellier, France.
Gian Luigi GigliClinical Neurology Unit, Department of Neurosciences, University Hospital of Udine, Udine, Italy.
Mariarosaria ValenteClinical Neurology Unit, Department of Neurosciences, University Hospital of Udine, Udine, Italy.
Francesco JanesClinical Neurology Unit, Department of Neurosciences, University Hospital of Udine, Udine, Italy.
Andrea BernardiniClinical Neurology Unit, Department of Neurosciences, University Hospital of Udine, Udine, Italy.ORCID 0000-0002-0227-0659
Birgit HöglSleep Disorders Clinic, Department of Neurology, Medical University of Innsbruck, Innsbruck, Austria.
Ambra StefaniSleep Disorders Clinic, Department of Neurology, Medical University of Innsbruck, Innsbruck, Austria.
Abubaker IbrahimSleep Disorders Clinic, Department of Neurology, Medical University of Innsbruck, Innsbruck, Austria.
Karel ŠonkaDepartment of Neurology and Centre of Clinical Neuroscience, Charles University, First Faculty of Medicine and General University Hospital, Prague, Czech Republic.ORCID 0000-0001-5773-9656
David KemlinkDepartment of Neurology and Centre of Clinical Neuroscience, Charles University, First Faculty of Medicine and General University Hospital, Prague, Czech Republic.
Wolfgang OertelDepartment of Neurology, Philipps-University, Marburg, Germany.
Annette JanzenDepartment of Neurology, Philipps-University, Marburg, Germany.
Giuseppe PlazziDepartment of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio-Emilia, Modena, Italy.
Francesco BiscariniDepartment of Biomedical and Neuromotor Sciences (DIBINEM), Alma Mater Studiorum, University of Bologna, Bologna, Italy.
Elena AntelmiIRCCS, Institute of Neurological Sciences of Bologna, Bologna, Italy.
Michela FigorilliDepartment of Medical Sciences and Public Health, Sleep Disorder Research Center, University of Cagliari, Cagliari, Italy.
Monica PulighedduDepartment of Medical Sciences and Public Health, Sleep Disorder Research Center, University of Cagliari, Cagliari, Italy.ORCID 0000-0002-6837-6608
Brit MollenhauerParacelsus-Elena-Klinik, Kassel, Germany.
Claudia TrenkwalderParacelsus-Elena-Klinik, Kassel, Germany.
Friederike Sixel-DöringDepartment of Neurology, Philipps-University, Marburg, Germany.
Valérie Cochen De CockSleep and Neurology Unit, Beau Soleil Clinic, Montpellier, France.
Christelle Charley MonacaUniversity Lille North of France, Department of Clinical Neurophysiology and Sleep Center, CHU Lille, Lille, France.
Anna HeidbrederInstitute of Sleep Medicine and Neuromuscular Disorders, University of Münster, Münster, Germany.
Luigi Ferini-StrambiDepartment of Neurological Sciences, Università Vita-Salute San Raffaele, Milan, Italy.
Femke DijkstraLaboratory for Sleep Disorders, St. Dimpna Regional Hospital, Geel, Belgium.
Mineke ViaeneLaboratory for Sleep Disorders, St. Dimpna Regional Hospital, Geel, Belgium.
Beatriz AbrilSleep disorder Unit, Carémeau Hospital, University Hospital of Nîmes, Nîmes, France.
Bradley F BoeveDepartment of Neurology, Mayo Clinic, Rochester, MN, USA.ORCID 0000-0002-4153-8187
23andMe Research Team
Sonja W ScholzNeurodegenerative Diseases Research Unit, National Institute of Neurological Disorders and Stroke, Bethesda, MD, USA.ORCID 0000-0002-6623-0429
Mina RytenGreat Ormond Street Institute of Child Health, Genetics and Genomic Medicine, University College London, London, UK.ORCID 0000-0001-9520-6957
Sara Bandres-CigaLaboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA.
Alastair NoycePreventive Neurology Unit, Wolfson Institute of Preventive Medicine, Queen Mary University of London, London, UK.ORCID 0000-0003-3027-5497
Paul Cannon23andMe, Inc., Sunnyvale, CA, USA.
Lasse PihlstrømDepartment of Neurology, Oslo University Hospital, Oslo, Norway.
Mike A NallsData Tecnica International, Glen Echo, MD, USA.
Andrew B SingletonLaboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA.
Guy A RouleauDepartment of Human Genetics, McGill University, Montréal, QC, Canada.ORCID 0000-0001-8403-1418
Ronald B PostumaThe Neuro (Montreal Neurological Institute-Hospital), McGill University, Montréal, QC, Canada.
Ziv Gan-OrDepartment of Human Genetics, McGill University, Montréal, QC, Canada. ziv.gan-or@mcgill.ca.ORCID 0000-0003-0332-234X
23andMe (United States) · USMontreal Neurological Institute and Hospital · CANational Institutes of Health · USUniversity of Udine · ITGreat Ormond Street Hospital · GBInnsbruck Medical University · ATPhilipps University of Marburg · DECharles University · CZHôpital du Sacré-Cœur de Montréal · CAParacelsus Elena Klinik Kassel · DEUniversity of Cagliari · ITAntwerp University Hospital · BEInserm · FRJohns Hopkins University · USLund University · SEMayo Clinic in Arizona · USOslo University Hospital · NOQueen Mary University of London · GBSorbonne Université · FRUniversité de Lille · FR
Funding
Medical Research Council MR/N008324/1Parkinson's UK J-0901Wellcome Trust
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.
Indexed as
Parkinson DiseaseREM Sleep Behavior DisorderSynucleinopathiesBrainGenome-Wide Association StudyHumans
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.