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

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

PLoS Genet. 7:e1002171 (2011)
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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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Publikationstyp Artikel: Journalartikel
Dokumenttyp Wissenschaftlicher Artikel
Schlagwörter Common genetic-variants; Risk;Transcription; Tox3
Sprache englisch
Veröffentlichungsjahr 2011
HGF-Berichtsjahr 2011
ISSN (print) / ISBN 1553-7390
e-ISSN 1553-7404
Zeitschrift PLoS Genetics
Quellenangaben Band: 7, Heft: 7, Seiten: , Artikelnummer: e1002171 Supplement: ,
Verlag Public Library of Science (PLoS)
Begutachtungsstatus Peer reviewed
Institut(e) Institute of Human Genetics (IHG)
Institute of Genetic Epidemiology (IGE)
Institute of Epidemiology (EPI)
Research Unit Molecular Epidemiology (AME)
POF Topic(s) 30501 - Systemic Analysis of Genetic and Environmental Factors that Impact Health
30503 - Chronic Diseases of the Lung and Allergies
Forschungsfeld(er) Genetics and Epidemiology
PSP-Element(e) G-500700-001
G-504100-001
G-503900-001
G-504200-003
PubMed ID 21779176
DOI 10.1371/journal.pgen.1002171
Scopus ID 79960819049
Erfassungsdatum 2011-09-15
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