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Autor
Bachmann, Cornelius G 1 Bell, Steven 1 Berger, Klaus 1 Bergmann, Melanie 1 Burchell, Brendan 1 Butterworth, Adam S 1 Chenini, Sofiene 1 Danesh, John 1 Dauvilliers, Yves 1 Desautels, Alex 1 Di Angelantonio, Emanuele 1 Didriksen, Maria 1 Dina, Christian 1 Dowsett, Joseph 1 Earley, Christopher J 1 Erikstrup, Christian 1 Fietze, Ingo 1 Franke, Andre 1 Furlotte, Nicholas A 1 Gieger, Christian 1
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Pracoviště
1st Faculty of Medicine Charles Unive... 1 Biomedical Centre Faculty of Medicine... 1 Bragée ME CFS Center Stockholm Sweden 1 British Heart Foundation Cardiovascul... 1 British Heart Foundation Centre of Re... 1 Cancer Research UK Cambridge Institut... 1 Center for Restless Legs Syndrome Dep... 1 Centre d'Études Avancées en Médecine ... 1 Chair of Epidemiology Institute for M... 1 Clinical and Molecular Metabolism Res... 1 Department of Clinical Immunology Aal... 1 Department of Clinical Immunology Aar... 1 Department of Clinical Immunology Cop... 1 Department of Clinical Immunology Ode... 1 Department of Clinical Immunology Zea... 1 Department of Clinical Medicine Aarhu... 1 Department of Clinical Medicine Unive... 1 Department of Clinical Neurosciences ... 1 Department of Genetic Epidemiology In... 1 Department of Haematology University ... 1
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Autor
Bachmann, Cornelius G 1 Bell, Steven 1 Berger, Klaus 1 Bergmann, Melanie 1 Burchell, Brendan 1 Butterworth, Adam S 1 Chenini, Sofiene 1 Danesh, John 1 Dauvilliers, Yves 1 Desautels, Alex 1 Di Angelantonio, Emanuele 1 Didriksen, Maria 1 Dina, Christian 1 Dowsett, Joseph 1 Earley, Christopher J 1 Erikstrup, Christian 1 Fietze, Ingo 1 Franke, Andre 1 Furlotte, Nicholas A 1 Gieger, Christian 1
- Organizace
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Pracoviště
1st Faculty of Medicine Charles Unive... 1 Biomedical Centre Faculty of Medicine... 1 Bragée ME CFS Center Stockholm Sweden 1 British Heart Foundation Cardiovascul... 1 British Heart Foundation Centre of Re... 1 Cancer Research UK Cambridge Institut... 1 Center for Restless Legs Syndrome Dep... 1 Centre d'Études Avancées en Médecine ... 1 Chair of Epidemiology Institute for M... 1 Clinical and Molecular Metabolism Res... 1 Department of Clinical Immunology Aal... 1 Department of Clinical Immunology Aar... 1 Department of Clinical Immunology Cop... 1 Department of Clinical Immunology Ode... 1 Department of Clinical Immunology Zea... 1 Department of Clinical Medicine Aarhu... 1 Department of Clinical Medicine Unive... 1 Department of Clinical Neurosciences ... 1 Department of Genetic Epidemiology In... 1 Department of Haematology University ... 1
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Schormair, Barbara
Autor Schormair, Barbara ORCID Institute of Neurogenomics, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany. barbara.schormair@helmholtz-munich.de Institute of Human Genetics, TUM School of Medicine and Health, Technical University of Munich, Munich, Germany. barbara.schormair@helmholtz-munich.de
- Zhao, Chen
- Bell, Steven
- Didriksen, Maria
- Nawaz, Muhammad S
- Schandra, Nathalie
- Stefani, Ambra
- Högl, Birgit
- Dauvilliers, Yves
- Bachmann, Cornelius G
Restless legs syndrome (RLS) affects up to 10% of older adults. Their healthcare is impeded by delayed diagnosis and insufficient treatment. To advance disease prediction and find new entry points for therapy, we performed meta-analyses of genome-wide association studies in 116,647 individuals with RLS (cases) and 1,546,466 controls of European ancestry. The pooled analysis increased the number of risk loci eightfold to 164, including three on chromosome X. Sex-specific meta-analyses revealed largely overlapping genetic predispositions of the sexes (rg = 0.96). Locus annotation prioritized druggable genes such as glutamate receptors 1 and 4, and Mendelian randomization indicated RLS as a causal risk factor for diabetes. Machine learning approaches combining genetic and nongenetic information performed best in risk prediction (area under the curve (AUC) = 0.82-0.91). In summary, we identified targets for drug development and repurposing, prioritized potential causal relationships between RLS and relevant comorbidities and risk factors for follow-up and provided evidence that nonlinear interactions are likely relevant to RLS risk prediction.
- MeSH
- celogenomová asociační studie * MeSH
- genetická predispozice k nemoci * MeSH
- jednonukleotidový polymorfismus MeSH
- lidé MeSH
- mendelovská randomizace MeSH
- rizikové faktory MeSH
- strojové učení MeSH
- syndrom neklidných nohou * genetika MeSH
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- lidé MeSH
- mužské pohlaví MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- metaanalýza MeSH
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