PTPRD (protein tyrosine phosphatase receptor type delta) is associated with restless legs syndrome by Schormair Barbara, Kemlink David, Roeske Darina, Eckstein Gertrud, Xiong Lan, Lichtner Peter, Ripke Stephan, Trenkwalder Claudia, Zimprich Alexander, Stiasny-Kolster Karin, Oertel Wolfgang, Bachmann Cornelius G, Paulus Walter, Högl Birgit, Frauscher Birgit, Gschliesser Viola, Poewe Werner, Peglau Ines, Vodicka Pavel, Vávrová Jana, Sonka Karel, Nevsimalova Sona, Montplaisir Jacques, Turecki Gustavo, Rouleau Guy, Gieger Christian, Illig Thomas, Wichmann H-Erich, Holsboer Florian, Müller-Myhsok Bertram, Meitinger Thomas, Winkelmann Juliane in Nature genetics (2008).

[PMID: 18660810] PubMed


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.

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