Communications Biology (Nov 2020)
Large genome-wide association study identifies three novel risk variants for restless legs syndrome
- Maria Didriksen,
- Muhammad Sulaman Nawaz,
- Joseph Dowsett,
- Steven Bell,
- Christian Erikstrup,
- Ole B. Pedersen,
- Erik Sørensen,
- Poul J. Jennum,
- Kristoffer S. Burgdorf,
- Brendan Burchell,
- Adam S. Butterworth,
- Nicole Soranzo,
- David B. Rye,
- Lynn Marie Trotti,
- Prabhjyot Saini,
- Lilja Stefansdottir,
- Sigurdur H. Magnusson,
- Gudmar Thorleifsson,
- Thordur Sigmundsson,
- Albert P. Sigurdsson,
- Katja Van Den Hurk,
- Franke Quee,
- Michael W. T. Tanck,
- Willem H. Ouwehand,
- David J. Roberts,
- Eric J. Earley,
- Michael P. Busch,
- Alan E. Mast,
- Grier P. Page,
- John Danesh,
- Emanuele Di Angelantonio,
- Hreinn Stefansson,
- Henrik Ullum,
- Kari Stefansson
Affiliations
- Maria Didriksen
- Department of Clinical Immunology, Copenhagen University Hospital, Rigshospitalet
- Muhammad Sulaman Nawaz
- deCODE Genetics
- Joseph Dowsett
- Department of Clinical Immunology, Copenhagen University Hospital, Rigshospitalet
- Steven Bell
- The National Institute for Health Research Blood and Transplant Unit in Donor Health and Genomics, University of Cambridge
- Christian Erikstrup
- Department of Clinical Immunology, Aarhus University Hospital
- Ole B. Pedersen
- Department of Clinical Immunology, Nastved Sygehus
- Erik Sørensen
- Department of Clinical Immunology, Copenhagen University Hospital, Rigshospitalet
- Poul J. Jennum
- Department of Clinical Neurophysiology, Danish Center for Sleep Medicine, Copenhagen University Hospital, Rigshospitalet
- Kristoffer S. Burgdorf
- Department of Clinical Immunology, Copenhagen University Hospital, Rigshospitalet
- Brendan Burchell
- Faculty of Human, Social and Political Sciences, University of Cambridge
- Adam S. Butterworth
- The National Institute for Health Research Blood and Transplant Unit in Donor Health and Genomics, University of Cambridge
- Nicole Soranzo
- The National Institute for Health Research Blood and Transplant Unit in Donor Health and Genomics, University of Cambridge
- David B. Rye
- Department of Neurology and Program in Sleep, Emory University
- Lynn Marie Trotti
- Department of Neurology and Program in Sleep, Emory University
- Prabhjyot Saini
- Department of Neurology and Program in Sleep, Emory University
- Lilja Stefansdottir
- deCODE Genetics
- Sigurdur H. Magnusson
- deCODE Genetics
- Gudmar Thorleifsson
- deCODE Genetics
- Thordur Sigmundsson
- Faculty of Medicine, University of Iceland
- Albert P. Sigurdsson
- Faculty of Medicine, University of Iceland
- Katja Van Den Hurk
- Department of Donor Studies, Sanquin Research
- Franke Quee
- Department of Donor Studies, Sanquin Research
- Michael W. T. Tanck
- Department of Clinical Epidemiology, Biostatistics and Bioinformatics, Amsterdam UMC, University of Amsterdam
- Willem H. Ouwehand
- The National Institute for Health Research Blood and Transplant Unit in Donor Health and Genomics, University of Cambridge
- David J. Roberts
- The National Institute for Health Research Blood and Transplant Unit in Donor Health and Genomics, University of Cambridge
- Eric J. Earley
- RTI International, Research Triangle Park
- Michael P. Busch
- Vitalant Research Institute
- Alan E. Mast
- Blood Research Institute, Versiti
- Grier P. Page
- RTI International
- John Danesh
- The National Institute for Health Research Blood and Transplant Unit in Donor Health and Genomics, University of Cambridge
- Emanuele Di Angelantonio
- The National Institute for Health Research Blood and Transplant Unit in Donor Health and Genomics, University of Cambridge
- Hreinn Stefansson
- deCODE Genetics
- Henrik Ullum
- Department of Clinical Immunology, Copenhagen University Hospital, Rigshospitalet
- Kari Stefansson
- deCODE Genetics
- DOI
- https://doi.org/10.1038/s42003-020-01430-1
- Journal volume & issue
-
Vol. 3,
no. 1
pp. 1 – 9
Abstract
Didriksen, Nawaz, et al. identify three novel genetic risk variants for restless legs syndrome and confirm 19 out of 20 previously reported variants through a genome-wide association meta-analysis including nearly half a million individuals. Using expression QTL analysis, they also find that a subset of these loci may have a causal effect on nearby gene expression.
