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

Juliane Winkelmann 1, 2, 3, * Darina Czamara 4 Barbara Schormair 1, 3 Franziska Knauf 1, 3 Eva Schulte 2 Claudia Trenkwalder 5 Yves Dauvilliers 6 Olli Polo 7, 8 Birgit Högl 9 Klaus Berger 10 Andrea Fuhs 10 Nadine Gross 2 Karin Stiasny-Kolster 11, 12 Wolfgang Oertel 12 Cornelius Bachmann 13 Walter Paulus 13 Lan Xiong 14 Jacques Montplaisir 15, 16 Guy Rouleau 14 Ingo Fietze 17 Jana Vávrová 18 David Kemlink 18 Karel Sonka 18 Sona Nevsimalova 18 Siong-Chi Lin 19 Zbigniew Wszolek 19 Carles Vilariño-Güell 19 Matthew Farrer 19 Viola Gschliesser 9 Birgit Frauscher 9 Tina Falkenstetter 9 Werner Poewe 9 Richard Allen 20 Christopher Earley 20 William Ondo 21 Wei-Dong Le 21 Derek Spieler 1, 3 Maria Kaffe 2, 3 Alexander Zimprich 22 Johannes Kettunen 23, 24 Markus Perola 23, 24 Kaisa Silander 23, 24 Isabelle Cournu-Rebeix 25 Marcella Francavilla 25 Claire Fontenille 25 Bertrand Fontaine 25 Pavel Vodicka 26 Holger Prokisch 3, 1 Peter Lichtner 1, 3 Paul Peppard 27 Juliette Faraco 28 Emmanuel Mignot 28 Christian Gieger 29 Thomas Illig 30 H-Erich Wichmann 31, 32, 33 Bertram Müller-Myhsok 4 Thomas Meitinger 1, 3
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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PLoS Genetics, Public Library of Science, 2011, 7 (7), pp.e1002171. 〈10.1371/journal.pgen.1002171〉
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Juliane Winkelmann, Darina Czamara, Barbara Schormair, Franziska Knauf, Eva Schulte, et al.. Genome-wide association study identifies novel restless legs syndrome susceptibility loci on 2p14 and 16q12.1.. PLoS Genetics, Public Library of Science, 2011, 7 (7), pp.e1002171. 〈10.1371/journal.pgen.1002171〉. 〈inserm-00711782〉

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