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

Publication ,  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 ...
Published in: Nat Genet
August 2008
Published version (DOI) Link to item

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.

Duke Scholars

Birgit Frauscher
Author Birgit Frauscher Neurology, Epilepsy and Sleep
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Published In

Nat Genet

DOI

10.1038/ng.190

EISSN

1546-1718

Publication Date

August 2008

Volume

40

Issue

8

Start / End Page

946 / 948

Location

United States

Related Subject Headings

  • Restless Legs Syndrome
  • Receptor-Like Protein Tyrosine Phosphatases, Class 2
  • Polymorphism, Single Nucleotide
  • Humans
  • Germany
  • Genetic Predisposition to Disease
  • Developmental Biology
  • Czech Republic
  • Case-Control Studies
  • Canada
 

Citation

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Schormair, B., Kemlink, D., Roeske, D., Eckstein, G., Xiong, L., Lichtner, P., … Winkelmann, J. (2008). PTPRD (protein tyrosine phosphatase receptor type delta) is associated with restless legs syndrome. Nat Genet, 40(8), 946–948. https://doi.org/10.1038/ng.190
Schormair, Barbara, David Kemlink, Darina Roeske, Gertrud Eckstein, Lan Xiong, Peter Lichtner, Stephan Ripke, et al. “PTPRD (protein tyrosine phosphatase receptor type delta) is associated with restless legs syndrome.” Nat Genet 40, no. 8 (August 2008): 946–48. https://doi.org/10.1038/ng.190.
Schormair B, Kemlink D, Roeske D, Eckstein G, Xiong L, Lichtner P, et al. PTPRD (protein tyrosine phosphatase receptor type delta) is associated with restless legs syndrome. Nat Genet. 2008 Aug;40(8):946–8.
Schormair, Barbara, et al. “PTPRD (protein tyrosine phosphatase receptor type delta) is associated with restless legs syndrome.” Nat Genet, vol. 40, no. 8, Aug. 2008, pp. 946–48. Pubmed, doi:10.1038/ng.190.
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 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. 2008 Aug;40(8):946–948.

Published In

Nat Genet

DOI

10.1038/ng.190

EISSN

1546-1718

Publication Date

August 2008

Volume

40

Issue

8

Start / End Page

946 / 948

Location

United States

Related Subject Headings

  • Restless Legs Syndrome
  • Receptor-Like Protein Tyrosine Phosphatases, Class 2
  • Polymorphism, Single Nucleotide
  • Humans
  • Germany
  • Genetic Predisposition to Disease
  • Developmental Biology
  • Czech Republic
  • Case-Control Studies
  • Canada