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Public Library of Science, PLoS Genetics, 7(7), p. e1002171, 2011

DOI: 10.1371/journal.pgen.1002171

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

Journal article published in 2011 by Juliane Winkelmann, Darina Czamara, Barbara Schormair, Franziska Knauf, Ec C. Schulte ORCID, Schulte Ec, Claudia Trenkwalder, Yves Dauvilliers, Olli Polo, Birgit Hoegl, Birgit Högl, Klaus Berger, Andrea Fuhs, Nadine Gross, Karin Stiasny-Kolster and other authors.
This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

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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.