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:

J Winkelmann, D Czamara, B Schormair, F Knauf, EC Schulte, C Trenkwalder, Y Dauvilliers, O Polo, B Högl, K Berger, A Fuhs, N Gross, K Stiasny-Kolster, W Oertel, CG Bachmann, W Paulus, L Xiong, J Montplaisir, GA Rouleau, I Fietze, J Vávrová, D Kemlink, K Sonka, S Nevsimalova, SC Lin, Z Wszolek, C Vilariño-Güell, MJ Farrer, V Gschliesser, B Frauscher, T Falkenstetter, W Poewe, RP Allen, CJ Earley, WG Ondo, WD Le, D Spieler, M Kaffe, A Zimprich, J Kettunen, M Perola, K Silander, I Cournu-Rebeix, M Francavilla, C Fontenille, B Fontaine, P Vodicka, H Prokisch, P Lichtner, P Peppard, J Faraco, E Mignot, C Gieger, T Illig, HE Wichmann, B Müller-Myhsok, T Meitinger

TITLE:

Genome-wide association study identifies novel restless legs syndrome susceptibility loci on 2p14 and 16q12.1.

JOURNAL:

PLoS genetics Jul 2011, Vol 7, pp. e1002171

ABSTRACT:

Restless legs syndrome (RLS) is a sensorimotor disorder with an age-dependent prevalence of up to 10% in the general population above 65 years of age. Affected individuals suffer from uncomfortable sensations and an urge to move in the lower limbs that occurs mainly in resting situations during the evening or at night. Moving the legs or walking leads to an improvement of symptoms. Concomitantly, patients report sleep disturbances with consequences such as reduced daytime functioning. We conducted a genome-wide association study (GWA) for RLS in 922 cases and 1,526 controls (using 301,406 SNPs) followed by a replication of 76 candidate SNPs in 3,935 cases and 5,754 controls, all of European ancestry. Herein, we identified six RLS susceptibility loci of genome-wide significance, two of them novel: an intergenic region on chromosome 2p14 (rs6747972, P = 9.03 × 10(-11), OR = 1.23) and a locus on 16q12.1 (rs3104767, P = 9.4 × 10(-19), OR = 1.35) in a linkage disequilibrium block of 140 kb containing the 5'-end of TOX3 and the adjacent non-coding RNA BC034767. PUBMED: 21779176
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