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GWAS Study

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

Schormair B, Kemlink D, Roeske D et al.

18660810 PubMed ID
GWAS Study Type
7218 Participants
112 Views
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Chapter I

Publication Details

Comprehensive information about this research publication

Authors

SB
Schormair B
KD
Kemlink D
RD
Roeske D
EG
Eckstein G
XL
Xiong L
LP
Lichtner P
RS
Ripke S
TC
Trenkwalder C
ZA
Zimprich A
SK
Stiasny-Kolster K
OW
Oertel W
BC
Bachmann CG
PW
Paulus W
HB
Högl B
FB
Frauscher B
GV
Gschliesser V
PW
Poewe W
PI
Peglau I
VP
Vodicka P
VJ
Vávrová J
SK
Sonka K
NS
Nevsimalova S
MJ
Montplaisir J
TG
Turecki G
RG
Rouleau G
GC
Gieger C
IT
Illig T
WH
Wichmann HE
HF
Holsboer F
MB
Müller-Myhsok B
MT
Meitinger T
WJ
Winkelmann J
Chapter II

Abstract

Summary of the research findings

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.

628 European ancestry cases, 1,644 European ancestry controls

Chapter III

Study Statistics

Key metrics and study information

7218
Total Participants
GWAS
Study Type
Yes
Replicated
1,550 European ancestry cases, 2,269 European ancestry controls, 285 French Canadian founder cases, 842 French Canadian founder controls
Replication Participants
European
Ancestry
Czech Republic, Canada, Germany, Austria
Recruitment Country
Chapter IV

AI-Generated Summary

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