PTPRD (Protein Tyrosine Phosphatase Receptor Type Delta) Is Associated With Restless Legs Syndrome

Nat Genet. 2008 Aug;40(8):946-8. doi: 10.1038/ng.190. Epub 2008 Jul 27.

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/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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • 5' Untranslated Regions / genetics
  • Austria
  • Canada
  • Case-Control Studies
  • Czech Republic
  • Genetic Predisposition to Disease*
  • Germany
  • Humans
  • Polymorphism, Single Nucleotide*
  • Receptor-Like Protein Tyrosine Phosphatases, Class 2 / genetics*
  • Restless Legs Syndrome / genetics*

Substances

  • 5' Untranslated Regions
  • PTPRD protein, human
  • Receptor-Like Protein Tyrosine Phosphatases, Class 2

Associated data

  • RefSeq/NM_002839