DESCRIPTION:

List of positional candidate genes after correcting for multiple testing and controlling the false discovery rate from genome wide association studies (GWAS) retrieved from the NHGRI-EBI Catalog of published genome-wide association studies (http://www.ebi.ac.uk/gwas/). The disease/trait examined in this study, as reported by the authors, was Restless legs syndrome. The EFO term restless legs syndrome was annotated to this set after curation by NHGRI-EBI. Intergenic SNPS were mapped to both the upstream and downstream gene. P-value uploaded. This gene set was generated using gwas2gs v. 0.1.8 and the GWAS Catalog v. 1.0.1.

LABEL:

GWAS: restless legs syndrome

SCORE TYPE:

P-Value

DATE ADDED:

2017-05-02

DATE UPDATED:

2024-04-25

SPECIES:

AUTHORS:

B Schormair, D Kemlink, D Roeske, G Eckstein, L Xiong, P Lichtner, S Ripke, C Trenkwalder, A Zimprich, K Stiasny-Kolster, W Oertel, CG Bachmann, W Paulus, B Högl, B Frauscher, V Gschliesser, W Poewe, I Peglau, P Vodicka, J Vávrová, K Sonka, S Nevsimalova, J Montplaisir, G Turecki, G Rouleau, C Gieger, T Illig, HE Wichmann, F Holsboer, B Müller-Myhsok, T Meitinger, J Winkelmann

TITLE:

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

JOURNAL:

Nature genetics Aug 2008, Vol 40, pp. 946-8

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. PUBMED: 18660810
Find other GeneSets from this publication