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 Högl; Birgit Frauscher; Viola Gschliesser; Werner Poewe; Ines Peglau; Pavel Vodicka; Jana Vávrová; Karel Sonka; Sona Nevsimalova; Jacques Montplaisir; Gustavo Turecki; Guy Rouleau; Christian Gieger; Thomas Illig; H. Erich Wichmann; Florian Holsboer; Bertram Müller-Myhsok; Thomas Meitinger; Juliane Winkelmann

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 Högl, Birgit Frauscher, Viola Gschliesser, Werner Poewe, Ines Peglau, Pavel Vodicka, Jana VávrováKarel Sonka, Sona Nevsimalova, Jacques Montplaisir, Gustavo Turecki, Guy Rouleau, Christian Gieger, Thomas Illig, H. Erich Wichmann, Florian Holsboer, Bertram Müller-Myhsok, Thomas Meitinger, Juliane Winkelmann

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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/λ corrected} = 5.91 × 10^-10, odds ratio (OR) = 1.44; rs1975197, P _{nominal/λ corrected} = 5.81 × 10^-9, OR = 1.31). This work identifies PTPRD as the fourth genome-wide significant locus for RLS.

Original language	English
Pages (from-to)	946-948
Number of pages	3
Journal	Nature Genetics
Volume	40
Issue number	8
DOIs	https://doi.org/10.1038/ng.190
State	Published - Aug 2008

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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., Vodicka, P., ... Winkelmann, J. (2008). PTPRD (protein tyrosine phosphatase receptor type delta) is associated with restless legs syndrome. Nature Genetics, 40(8), 946-948. https://doi.org/10.1038/ng.190

@article{6c004aef2cd84ce7a7ad426021d826cd,

title = "PTPRD (protein tyrosine phosphatase receptor type delta) is associated with restless legs syndrome",

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, Pnominal/λ corrected = 5.91 × 10-10, odds ratio (OR) = 1.44; rs1975197, P nominal/λ corrected = 5.81 × 10-9, OR = 1.31). This work identifies PTPRD as the fourth genome-wide significant locus for RLS.",

author = "Barbara Schormair and David Kemlink and Darina Roeske and Gertrud Eckstein and Lan Xiong and Peter Lichtner and Stephan Ripke and Claudia Trenkwalder and Alexander Zimprich and Karin Stiasny-Kolster and Wolfgang Oertel and Bachmann, {Cornelius G.} and Walter Paulus and Birgit H{\"o}gl and Birgit Frauscher and Viola Gschliesser and Werner Poewe and Ines Peglau and Pavel Vodicka and Jana V{\'a}vrov{\'a} and Karel Sonka and Sona Nevsimalova and Jacques Montplaisir and Gustavo Turecki and Guy Rouleau and Christian Gieger and Thomas Illig and Wichmann, {H. Erich} and Florian Holsboer and Bertram M{\"u}ller-Myhsok and Thomas Meitinger and Juliane Winkelmann",

note = "Funding Information: We are grateful to all individuals who participated in this study. We wish to thank J. Favor, B. P{\"u}tz and K. Oexle for discussions and R. Feldmann, J. Golic, K. Junghans and B. Schmick for technical assistance. We acknowledge L. Habersack, H. Rhese and J. Schmidt-Evers from the German RLS patient organization for supporting this study. Part of this work was financed by the National Genome Research Network (NGFN). The KORA study group consists of H.-E. Wichmann (speaker), R. Holle, J. John, T. Illig, C. Meisinger, A. Peters and their co-workers, who are responsible for the design and conduct of the KORA studies. The KORA research platform (KORA, Cooperative Research in the Region of Augsburg) was initiated and financed by the Helmholtz Zentrum M{\"u}nchen, which is funded by the German Federal Ministry of Education and Research and by the State of Bavaria. The Canadian part of the study was supported by a Canadian Institutes of Health Research (CIHR) grant to G.R., J.M. and G.T. D.K. was supported by grant MSM0021620849, and J.V. and K.S. were supported by grant MSM0021620816. Recruitment of Czech controls was funded by grant IGA NR 8563-5, Ministry of Health of the Czech Republic.",

year = "2008",

month = aug,

doi = "10.1038/ng.190",

language = "English",

volume = "40",

pages = "946--948",

journal = "Nature Genetics",

issn = "1061-4036",

publisher = "Nature Research",

number = "8",

}

Schormair, B, Kemlink, D, Roeske, D, Eckstein, G, Xiong, L, Lichtner, P, Ripke, S, Trenkwalder, C, Zimprich, A, Stiasny-Kolster, K, Oertel, W, Bachmann, CG, 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, HE, Holsboer, F, Müller-Myhsok, B, Meitinger, T & Winkelmann, J 2008, 'PTPRD (protein tyrosine phosphatase receptor type delta) is associated with restless legs syndrome', Nature Genetics, vol. 40, no. 8, pp. 946-948. https://doi.org/10.1038/ng.190

TY - JOUR

T1 - PTPRD (protein tyrosine phosphatase receptor type delta) is associated with restless legs syndrome

AU - Schormair, Barbara

AU - Kemlink, David

AU - Roeske, Darina

AU - Eckstein, Gertrud

AU - Xiong, Lan

AU - Lichtner, Peter

AU - Ripke, Stephan

AU - Trenkwalder, Claudia

AU - Zimprich, Alexander

AU - Stiasny-Kolster, Karin

AU - Oertel, Wolfgang

AU - Bachmann, Cornelius G.

AU - Paulus, Walter

AU - Högl, Birgit

AU - Frauscher, Birgit

AU - Gschliesser, Viola

AU - Poewe, Werner

AU - Peglau, Ines

AU - Vodicka, Pavel

AU - Vávrová, Jana

AU - Sonka, Karel

AU - Nevsimalova, Sona

AU - Montplaisir, Jacques

AU - Turecki, Gustavo

AU - Rouleau, Guy

AU - Gieger, Christian

AU - Illig, Thomas

AU - Wichmann, H. Erich

AU - Holsboer, Florian

AU - Müller-Myhsok, Bertram

AU - Meitinger, Thomas

AU - Winkelmann, Juliane

N1 - Funding Information: We are grateful to all individuals who participated in this study. We wish to thank J. Favor, B. Pütz and K. Oexle for discussions and R. Feldmann, J. Golic, K. Junghans and B. Schmick for technical assistance. We acknowledge L. Habersack, H. Rhese and J. Schmidt-Evers from the German RLS patient organization for supporting this study. Part of this work was financed by the National Genome Research Network (NGFN). The KORA study group consists of H.-E. Wichmann (speaker), R. Holle, J. John, T. Illig, C. Meisinger, A. Peters and their co-workers, who are responsible for the design and conduct of the KORA studies. The KORA research platform (KORA, Cooperative Research in the Region of Augsburg) was initiated and financed by the Helmholtz Zentrum München, which is funded by the German Federal Ministry of Education and Research and by the State of Bavaria. The Canadian part of the study was supported by a Canadian Institutes of Health Research (CIHR) grant to G.R., J.M. and G.T. D.K. was supported by grant MSM0021620849, and J.V. and K.S. were supported by grant MSM0021620816. Recruitment of Czech controls was funded by grant IGA NR 8563-5, Ministry of Health of the Czech Republic.

PY - 2008/8

Y1 - 2008/8

N2 - 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, Pnominal/λ corrected = 5.91 × 10-10, odds ratio (OR) = 1.44; rs1975197, P nominal/λ corrected = 5.81 × 10-9, OR = 1.31). This work identifies PTPRD as the fourth genome-wide significant locus for RLS.

AB - 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, Pnominal/λ corrected = 5.91 × 10-10, odds ratio (OR) = 1.44; rs1975197, P nominal/λ corrected = 5.81 × 10-9, OR = 1.31). This work identifies PTPRD as the fourth genome-wide significant locus for RLS.

UR - http://www.scopus.com/inward/record.url?scp=48349142470&partnerID=8YFLogxK

U2 - 10.1038/ng.190

DO - 10.1038/ng.190

M3 - Article

C2 - 18660810

AN - SCOPUS:48349142470

SN - 1061-4036

VL - 40

SP - 946

EP - 948

JO - Nature Genetics

JF - Nature Genetics

IS - 8

ER -

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

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