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PTPRD (protein tyrosine phosphatase receptor type delta) is associated with restless legs syndrome
ISSN
1061-4036
Date Issued
2008
Author(s)
Schormair, Barbara
Kemlink, David
Roeske, Darina
Eckstein, Gertrud
Xiong, Lan
Lichtner, Peter
Ripke, Stephan
Zimprich, Alexander
Stiasny-Kolster, Karin
Oertel, Wolfgang
Bachmann, Cornelius G.
Hoegl, Birgit
Frauscher, Birgit
Gschliesser, Viola
Poewe, Werner
Peglau, Ines
Vodicka, Pavel
Vavrova, Jana
Sonka, Karel
Nevsimalova, Sona
Montplaisir, Jacques
Turecki, Gustavo
Rouleau, Guy A.
Gieger, Christian
Illig, Thomas
Wichmann, H-Erich
Holsboer, Florian
Mueller-Myhsok, Bertram
Meitinger, Thomas
Winkelmann, Juliane
DOI
10.1038/ng.190
Abstract
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.