PTPRD (protein tyrosine phosphatase receptor type delta) is associated with restless legs syndrome.
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.
Schormair
Barbara
B
Institute of Human Genetics, Helmholtz Zentrum München-German Research Center for Environmental Health, Neuherberg 85764, Germany.
Kemlink
David
D
Roeske
Darina
D
Eckstein
Gertrud
G
Xiong
Lan
L
Lichtner
Peter
P
Ripke
Stephan
S
Trenkwalder
Claudia
C
Zimprich
Alexander
A
Stiasny-Kolster
Karin
K
Oertel
Wolfgang
W
Bachmann
Cornelius G
CG
Paulus
Walter
W
Högl
Birgit
B
Frauscher
Birgit
B
Gschliesser
Viola
V
Poewe
Werner
W
Peglau
Ines
I
Vodicka
Pavel
P
Vávrová
Jana
J
Sonka
Karel
K
Nevsimalova
Sona
S
Montplaisir
Jacques
J
Turecki
Gustavo
G
Rouleau
Guy
G
Gieger
Christian
C
Illig
Thomas
T
Wichmann
H-Erich
HE
Holsboer
Florian
F
Müller-Myhsok
Bertram
B
Meitinger
Thomas
T
Winkelmann
Juliane
J
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*
D020121:5' Untranslated Regions; C090899:PTPRD protein, human; D054623:Receptor-Like Protein Tyrosine Phosphatases, Class 2