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Large genome-wide association study identifies three novel risk variants for restless legs syndrome.
Didriksen, Maria; Nawaz, Muhammad Sulaman; Dowsett, Joseph; Bell, Steven; Erikstrup, Christian; Pedersen, Ole B; Sørensen, Erik; Jennum, Poul J; Burgdorf, Kristoffer S; Burchell, Brendan; Butterworth, Adam S; Soranzo, Nicole; Rye, David B; Trotti, Lynn Marie; Saini, Prabhjyot; Stefansdottir, Lilja; Magnusson, Sigurdur H; Thorleifsson, Gudmar; Sigmundsson, Thordur; Sigurdsson, Albert P; Van Den Hurk, Katja; Quee, Franke; Tanck, Michael W T; Ouwehand, Willem H; Roberts, David J; Earley, Eric J; Busch, Michael P; Mast, Alan E; Page, Grier P; Danesh, John; Di Angelantonio, Emanuele; Stefansson, Hreinn; Ullum, Henrik; Stefansson, Kari.
Afiliação
  • Didriksen M; Department of Clinical Immunology, Copenhagen University Hospital, Rigshospitalet, 2100, Copenhagen, Denmark.
  • Nawaz MS; deCODE Genetics, 101, Reykjavik, Iceland.
  • Dowsett J; deCODE Genetics, 101, Reykjavik, Iceland.
  • Bell S; Faculty of Medicine, University of Iceland, 101, Reykjavik, Iceland.
  • Erikstrup C; Department of Clinical Immunology, Copenhagen University Hospital, Rigshospitalet, 2100, Copenhagen, Denmark.
  • Pedersen OB; The National Institute for Health Research Blood and Transplant Unit in Donor Health and Genomics, University of Cambridge, Cambridge, CB1 8RN, UK.
  • Sørensen E; British Heart Foundation Cardiovascular Epidemiology Unit, Department of Public Health and Primary Care, University of Cambridge, Cambridge, CB1 8RN, UK.
  • Jennum PJ; British Heart Foundation Centre of Research Excellence, Division of Cardiovascular Medicine, Addenbrooke's Hospital, Cambridge, CB2 0QQ, UK.
  • Burgdorf KS; Department of Clinical Immunology, Aarhus University Hospital, Aarhus, Denmark.
  • Burchell B; Department of Clinical Immunology, Nastved Sygehus, Nastved, Denmark.
  • Butterworth AS; Department of Clinical Immunology, Copenhagen University Hospital, Rigshospitalet, 2100, Copenhagen, Denmark.
  • Soranzo N; Department of Clinical Neurophysiology, Danish Center for Sleep Medicine, Copenhagen University Hospital, Rigshospitalet, Glostrup, Denmark.
  • Rye DB; Faculty of Health, University of Copenhagen, Copenhagen, Denmark.
  • Trotti LM; Department of Clinical Immunology, Copenhagen University Hospital, Rigshospitalet, 2100, Copenhagen, Denmark.
  • Saini P; Faculty of Human, Social and Political Sciences, University of Cambridge, Cambridge, CB1 8RN, UK.
  • Stefansdottir L; The National Institute for Health Research Blood and Transplant Unit in Donor Health and Genomics, University of Cambridge, Cambridge, CB1 8RN, UK.
  • Magnusson SH; British Heart Foundation Cardiovascular Epidemiology Unit, Department of Public Health and Primary Care, University of Cambridge, Cambridge, CB1 8RN, UK.
  • Thorleifsson G; British Heart Foundation Centre of Research Excellence, Division of Cardiovascular Medicine, Addenbrooke's Hospital, Cambridge, CB2 0QQ, UK.
  • Sigmundsson T; The National Institute for Health Research Blood and Transplant Unit in Donor Health and Genomics, University of Cambridge, Cambridge, CB1 8RN, UK.
  • Sigurdsson AP; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, CB2 0PT, UK.
  • Van Den Hurk K; Department of Human Genetics, The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1HH, UK.
  • Quee F; Department of Neurology and Program in Sleep, Emory University, Atlanta, GA, USA.
  • Tanck MWT; Department of Neurology and Program in Sleep, Emory University, Atlanta, GA, USA.
  • Ouwehand WH; Department of Neurology and Program in Sleep, Emory University, Atlanta, GA, USA.
  • Roberts DJ; deCODE Genetics, 101, Reykjavik, Iceland.
  • Earley EJ; deCODE Genetics, 101, Reykjavik, Iceland.
  • Busch MP; deCODE Genetics, 101, Reykjavik, Iceland.
  • Mast AE; Faculty of Medicine, University of Iceland, 101, Reykjavik, Iceland.
  • Page GP; Department of Psychiatry, Telemark Hospital Trust, Skien, Norway.
  • Danesh J; Faculty of Medicine, University of Iceland, 101, Reykjavik, Iceland.
  • Di Angelantonio E; Department of Donor Studies, Sanquin Research, 1066 CX, Amsterdam, The Netherlands.
  • Stefansson H; Department of Donor Studies, Sanquin Research, 1066 CX, Amsterdam, The Netherlands.
  • Ullum H; Department of Clinical Epidemiology, Biostatistics and Bioinformatics, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.
  • Stefansson K; The National Institute for Health Research Blood and Transplant Unit in Donor Health and Genomics, University of Cambridge, Cambridge, CB1 8RN, UK.
Commun Biol ; 3(1): 703, 2020 11 25.
Article em En | MEDLINE | ID: mdl-33239738
ABSTRACT
Restless legs syndrome (RLS) is a common neurological sensorimotor disorder often described as an unpleasant sensation associated with an urge to move the legs. Here we report findings from a meta-analysis of genome-wide association studies of RLS including 480,982 Caucasians (cases = 10,257) and a follow up sample of 24,977 (cases = 6,651). We confirm 19 of the 20 previously reported RLS sequence variants at 19 loci and report three novel RLS associations; rs112716420-G (OR = 1.25, P = 1.5 × 10-18), rs10068599-T (OR = 1.09, P = 6.9 × 10-10) and rs10769894-A (OR = 0.90, P = 9.4 × 10-14). At four of the 22 RLS loci, cis-eQTL analysis indicates a causal impact on gene expression. Through polygenic risk score for RLS we extended prior epidemiological findings implicating obesity, smoking and high alcohol intake as risk factors for RLS. To improve our understanding, with the purpose of seeking better treatments, more genetics studies yielding deeper insights into the disease biology are needed.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Síndrome das Pernas Inquietas / Predisposição Genética para Doença / Polimorfismo de Nucleotídeo Único Tipo de estudo: Etiology_studies / Prognostic_studies / Risk_factors_studies / Systematic_reviews Limite: Adult / Aged / Humans / Middle aged Idioma: En Ano de publicação: 2020 Tipo de documento: Article
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Síndrome das Pernas Inquietas / Predisposição Genética para Doença / Polimorfismo de Nucleotídeo Único Tipo de estudo: Etiology_studies / Prognostic_studies / Risk_factors_studies / Systematic_reviews Limite: Adult / Aged / Humans / Middle aged Idioma: En Ano de publicação: 2020 Tipo de documento: Article