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, B Schormair, P Lichtner, S Ripke, L Xiong, S Jalilzadeh, S Fulda, B Pütz, G Eckstein, S Hauk, C Trenkwalder, A Zimprich, K Stiasny-Kolster, W Oertel, CG Bachmann, W Paulus, I Peglau, I Eisensehr, J Montplaisir, G Turecki, G Rouleau, C Gieger, T Illig, HE Wichmann, F Holsboer, B Müller-Myhsok, T Meitinger

TITLE:

Genome-wide association study of restless legs syndrome identifies common variants in three genomic regions.

JOURNAL:

Nature genetics Aug 2007, Vol 39, pp. 1000-6

ABSTRACT:

Restless legs syndrome (RLS) is a frequent neurological disorder characterized by an imperative urge to move the legs during night, unpleasant sensation in the lower limbs, disturbed sleep and increased cardiovascular morbidity. In a genome-wide association study we found highly significant associations between RLS and intronic variants in the homeobox gene MEIS1, the BTBD9 gene encoding a BTB(POZ) domain as well as variants in a third locus containing the genes encoding mitogen-activated protein kinase MAP2K5 and the transcription factor LBXCOR1 on chromosomes 2p, 6p and 15q, respectively. Two independent replications confirmed these association signals. Each genetic variant was associated with a more than 50% increase in risk for RLS, with the combined allelic variants conferring more than half of the risk. MEIS1 has been implicated in limb development, raising the possibility that RLS has components of a developmental disorder. PUBMED: 17637780
Find other GeneSets from this publication