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Brief Communication

Nature Genetics 40, 946–948 (1 August 2008) | doi:10.1038/ng.190

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

Barbara Schormair , David Kemlink , Darina Roeske , Gertrud Eckstein , Lan Xiong , Peter Lichtner , Stephan Ripke , Claudia Trenkwalder , Alexander Zimprich , Karin Stiasny-Kolster , Wolfgang Oertel , Cornelius G Bachmann , Walter Paulus , Birgit H|[ouml]|gl , Birgit Frauscher , Viola Gschliesser , Werner Poewe , Ines Peglau , Pavel Vodicka , Jana V|[aacute]|vrov|[aacute]| , Karel Sonka , Sona Nevsimalova , Jacques Montplaisir , Gustavo Turecki , Guy Rouleau , Christian Gieger , Thomas Illig , H-Erich Wichmann , Florian Holsboer , Bertram M|[uuml]|ller-Myhsok , Thomas Meitinger & Juliane Winkelmann

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|[prime]| UTR of splice variants expressed predominantly in the central nervous system showed highly significant P values (rs4626664, Pnominal/|[lambda]| corrected = 5.91 |[times]| 10|[minus]|10, odds ratio (OR) = 1.44; rs1975197, Pnominal/|[lambda]| corrected = 5.81 |[times]| 10|[minus]|9, OR = 1.31).