PTPRD (protein tyrosine phosphatase receptor type delta) is associated with restless legs syndrome

• DOI: 10.1038/ng.190
• Publication Date: 2008-07-20T18:56:03Z
• Authors: Barbara Schormair; David Kemlink; Darina Roeske; Gertrud Eckstein; Lan Xiong; Peter Lichtner; Stephan Ripke; Claudia Trenkwalder; Alexander Zimprich; Karin Stiasny-Kol...; Wolfgang Oertel; Cornelius G Bachmann; Walter Paulus; Birgit Högl; Birgit Frauscher; Viola Gschliesser; Werner Poewe; Ines Peglau; Pavel Vodicka; Jana Vávrová; Karel Sonka; Sona Nevsimalova; Jacques Montplaisir; Gustavo Turecki; Guy Rouleau; Christian Gieger; Thomas Illig; H-Erich Wichmann; Florian Holsboer; Bertram Müller-My...; Thomas Meitinger; Juliane Winkelmann
• Keywords: Canada; Receptor-Like Protein Tyrosine Phosphatases, Class 2; Polymorphism, Single Nucleotide; 3. Good health; 03 medical and health sciences; 0302 clinical medicine; 1311 Genetics; Austria; Case-Control Studies; Germany; Restless Legs Syndrome; Genetics; Humans; Genetic Predisposition to Disease; 5' Untranslated Regions; Czech Republic

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, P(nominal/lambda corrected) = 5.91 x 10(-10), odds ratio (OR) = 1.44; rs1975197, P(nominal/lambda corrected) = 5.81 x 10(-9), OR = 1.31). This work identifies PTPRD as the fourth genome-wide significant locus for RLS.