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

0310431 - ÚEM 2009 RIV US eng J - Journal Article
Schormair, B. - Kemlink, D. - Roeske, D. - Eckstein, G. - Xiong, L. - Lichtner, P. - Ripke, S. - Trenkwalder, C. - Zimprich, A. - Stiasny-Kolster, K. - Oertel, W. - Bachmann, C. G. - Paulus, W. - Högl, B. - Frauscher, B. - Gschliesser, V. - Poewe, W. - Peglau, I. - Vodička, Pavel - Vávrová, J. - Šonka, K. - Nevšímalová, S. - Montplaisir, J. - Turecki, G. - Rouleau, G. - Gieger, Ch. - 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.
[PTPRD (protein tyrozín fosfátový receptor typu delta) je asociován se syndromem neklidných nohou.]
Nature Genetics. Roč. 40, č. 8 (2008), s. 946-948. ISSN 1061-4036. E-ISSN 1546-1718
R&D Projects: GA MZd NR8563
Institutional research plan: CEZ:AV0Z50390703
Keywords : PTPRD * syndrom restless legs
Subject RIV: EB - Genetics ; Molecular Biology
Impact factor: 30.259, year: 2008

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.

Identifikovaly jsme asociaci se syndromem neklidných nohou (RLS) s PTPRD na 9p23-24 u 2,458 postižených jedinců a 4,749 kontrolních jedinců z Německa, Rakouska, České Republiky a Kanady. Dva nezávislé polymorfizmy v 5´UTR regionu, které jsou dominantně exprimovány v centrálním nervovém systému vykázaly zvýšené signifikantní P hodnoty.
Permanent Link: http://hdl.handle.net/11104/0162301