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, 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.
authors.affiliation: Institute of Human Genetics, Helmholtz Zentrum München-German Research Center for Environmental Health, Neuherberg 85764, Germany.
authors.forename: Barbara
authors.initials: B
authors.lastname: Schormair
authors.forename: David
authors.initials: D
authors.lastname: Kemlink
authors.forename: Darina
authors.initials: D
authors.lastname: Roeske
authors.forename: Gertrud
authors.initials: G
authors.lastname: Eckstein
authors.forename: Lan
authors.initials: L
authors.lastname: Xiong
authors.forename: Peter
authors.initials: P
authors.lastname: Lichtner
authors.forename: Stephan
authors.initials: S
authors.lastname: Ripke
authors.forename: Claudia
authors.initials: C
authors.lastname: Trenkwalder
authors.forename: Alexander
authors.initials: A
authors.lastname: Zimprich
authors.forename: Karin
authors.initials: K
authors.lastname: Stiasny-Kolster
authors.forename: Wolfgang
authors.initials: W
authors.lastname: Oertel
authors.forename: Cornelius G
authors.initials: CG
authors.lastname: Bachmann
authors.forename: Walter
authors.initials: W
authors.lastname: Paulus
authors.forename: Birgit
authors.initials: B
authors.lastname: Högl
authors.forename: Birgit
authors.initials: B
authors.lastname: Frauscher
authors.forename: Viola
authors.initials: V
authors.lastname: Gschliesser
authors.forename: Werner
authors.initials: W
authors.lastname: Poewe
authors.forename: Ines
authors.initials: I
authors.lastname: Peglau
authors.forename: Pavel
authors.initials: P
authors.lastname: Vodicka
authors.forename: Jana
authors.initials: J
authors.lastname: Vávrová
authors.forename: Karel
authors.initials: K
authors.lastname: Sonka
authors.forename: Sona
authors.initials: S
authors.lastname: Nevsimalova
authors.forename: Jacques
authors.initials: J
authors.lastname: Montplaisir
authors.forename: Gustavo
authors.initials: G
authors.lastname: Turecki
authors.forename: Guy
authors.initials: G
authors.lastname: Rouleau
authors.forename: Christian
authors.initials: C
authors.lastname: Gieger
authors.forename: Thomas
authors.initials: T
authors.lastname: Illig
authors.forename: H-Erich
authors.initials: HE
authors.lastname: Wichmann
authors.forename: Florian
authors.initials: F
authors.lastname: Holsboer
authors.forename: Bertram
authors.initials: B
authors.lastname: Müller-Myhsok
authors.forename: Thomas
authors.initials: T
authors.lastname: Meitinger
authors.forename: Juliane
authors.initials: J
authors.lastname: Winkelmann
mesh_terms: D020121:5' Untranslated Regions / Q000235:genetics; D001317:Austria; D002170:Canada; D016022:Case-Control Studies; D018153:Czech Republic; D020022:Genetic Predisposition to Disease; D005858:Germany; D006801:Humans; D020641:Polymorphism, Single Nucleotide; D054623:Receptor-Like Protein Tyrosine Phosphatases, Class 2 / Q000235:genetics*; D012148:Restless Legs Syndrome / Q000235:genetics*
chemical_list: D020121:5' Untranslated Regions; C090899:PTPRD protein, human; D054623:Receptor-Like Protein Tyrosine Phosphatases, Class 2