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Schormair, B. ; Kemlink, D. ; Roeske, D.* ; Eckstein, G.N. ; Xiong, L.* ; Lichtner, P. ; Ripke, S.* ; Trenkwalder, C.* ; * ; Stiasny-Kolster, K.* ; Oertel, W.* ; Bachmann, C.G.* ; Paulus, W.* ; Högl, B.* ; Frauscher, B.* ; Gschliesser, V.* ; Poewe, W.* ; Peglau, I.* ; Vodicka, P.* ; Vávrová, J.* ; Sonka, K.* ; Nevsimalova, S.* ; Montplaisir, J.* ; Turecki, G.* ; Rouleau, G.* ; Gieger, C. ; Illig, T. ; Wichmann, H.-E. ; Holsboer, F.* ; Müller-Myhsok, B.* ; Meitinger, T. ; Winkelmann, J.

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

Nat. Genet. 40, 946-948 (2008)
DOI
Open Access Green as soon as Postprint is submitted to ZB.
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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Publication type Article: Journal article
Document type Scientific Article
ISSN (print) / ISBN 1061-4036
e-ISSN 1546-1718
Journal Nature Genetics
Quellenangaben Volume: 40, Issue: 8, Pages: 946-948 Article Number: , Supplement: ,
Publisher Nature Publishing Group
Publishing Place New York, NY
Reviewing status Peer reviewed