Brief Communication abstract
Nature Genetics 40, 946 - 948 (2008)
Published online: 27 July 2008 | doi:10.1038/ng.190
PTPRD (protein tyrosine phosphatase receptor type delta) is associated with restless legs syndrome
Barbara Schormair1,2,19, David Kemlink1,3,19, Darina Roeske4, Gertrud Eckstein1,3, Lan Xiong5, Peter Lichtner1,2, Stephan Ripke4, Claudia Trenkwalder6, Alexander Zimprich7, Karin Stiasny-Kolster8, Wolfgang Oertel8, Cornelius G Bachmann9, Walter Paulus9, Birgit Högl10, Birgit Frauscher10, Viola Gschliesser10, Werner Poewe10, Ines Peglau11, Pavel Vodicka12, Jana Vávrová3, Karel Sonka3, Sona Nevsimalova3, Jacques Montplaisir13,14, Gustavo Turecki15, Guy Rouleau5, Christian Gieger16, Thomas Illig16, H-Erich Wichmann16,17, Florian Holsboer4, Bertram Müller-Myhsok4, Thomas Meitinger1,2 & Juliane Winkelmann1,2,4,18
We identified association of restless legs syndrome (RLS) with PTPRD at 9p23–24 in 2,458 affected individuals and 4,749 controls from Germany, Austria, Czechia and Canada. Two independent SNPs in the 5' UTR of splice variants expressed predominantly in the central nervous system showed highly significant P values (rs4626664, Pnominal/
corrected = 5.91 
10-10, odds ratio (OR) = 1.44; rs1975197, Pnominal/ corrected = 5.81 10-9, OR = 1.31). This work identifies PTPRD as the fourth genome-wide significant locus for RLS.
- Institute of Human Genetics, Helmholtz Zentrum München-German Research Center for Environmental Health, Neuherberg 85764, Germany.
- Institute of Human Genetics, Technische Universität München, Munich 81675, Germany.
- Department of Neurology, 1st Medical Faculty, Charles University, Prague 120 00, Czech Republic.
- Max Planck Institute of Psychiatry, Munich 80804, Germany.
- Centre d'excellence en neuromique, Hôpital Notre-Dame, Université de Montréal, Montréal H2L 4M1, Québec, Canada.
- Paracelsus-Elena-Hospital, Kassel 34128, Germany.
- Department of Neurology, Medical University of Vienna, Vienna 1090, Austria.
- Department of Neurology, Center of Nervous Diseases, Philipps University, Marburg 35039, Germany.
- Department of Clinical Neurophysiology, University of Göttingen, Göttingen 37070, Germany.
- Department of Neurology, Innsbruck Medical University, Innsbruck 6020, Austria.
- Neurologische Praxis, Berlin 10969, Germany.
- Institute of Experimental Medicine, Czech Academy of Sciences, Prague 140 00, Czech Republic.
-
Centre d'étude du sommeil, Hôpital du Sacré-C
ur de Montréal, Montréal, Québec H4J 1C5, Canada. - Centre de recherche en sciences neurologiques, Université de Montréal, Montréal, Québec H4J 1C5, Canada.
- Departments of Psychiatry and Human Genetics, McGill University, Douglas Hospital, Montreal, Quebec H4H 1R3, Canada.
- Institute of Epidemiology, Helmholtz Zentrum München-German Research Center for Environmental Health, Munich 85764, Germany.
- Institute of Medical Informatics, Biometry and Epidemiology, Ludwig-Maximilians-Universität, Munich 81377, Germany.
- Neurologische Klinik und Poliklinik, Technische Universität München, Ismaninger Strasse 22, 81675 München, Germany.
- These authors contributed equally to this work.
Correspondence to: Juliane Winkelmann1,2,4,18 e-mail: winkelmann@lrz.tu-muenchen.de
Correspondence to: Thomas Meitinger1,2 e-mail: meitinger@helmholtz-muenchen.de
MORE ARTICLES LIKE THIS
These links to content published by NPG are automatically generated.
RESEARCH
Genome-wide association study of restless legs syndrome identifies common variants in three genomic regionsNature Genetics Letter (01 Aug 2007)
A common genetic variant in the NOS1 regulator NOS1AP modulates cardiac repolarizationNature Genetics Article (01 Jun 2006)
