Genome-wide association study identifies novel restless legs syndrome susceptibility loci on 2p14 and 16q12.1. - Inserm - Institut national de la santé et de la recherche médicale Access content directly
Journal Articles PLoS Genetics Year : 2011

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

Darina Czamara
David Kemlink
Karel Sonka
Sona Nevsimalova
Emmanuel Mignot

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.

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Genetics
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inserm-00711782 , version 1 (25-06-2012)

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Juliane Winkelmann, Darina Czamara, Barbara Schormair, Franziska Knauf, Eva C. Schulte, et al.. Genome-wide association study identifies novel restless legs syndrome susceptibility loci on 2p14 and 16q12.1.. PLoS Genetics, 2011, 7 (7), pp.e1002171. ⟨10.1371/journal.pgen.1002171⟩. ⟨inserm-00711782⟩
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