期刊
PLOS GENETICS
卷 7, 期 7, 页码 -出版社
PUBLIC LIBRARY SCIENCE
DOI: 10.1371/journal.pgen.1002171
关键词
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资金
- US RLS Foundation
- National Genome Research Network (NGFN)
- Helmholtz Zentrum Munchen
- German Federal Ministry of Education and Research
- State of Bavaria
- German Migraine & Headache Society (DMKG)
- Astra Zeneca
- Berlin Chemie
- Boots Healthcare
- Glaxo-Smith-Kline
- McNeil Pharma (former Woelm Pharma)
- MSD Sharp Dohme
- Pfizer
- Institute of Epidemiology and Social Medicine, University of Muenster
- Axxonis Pharma
- Boehringer Ingelheim Pharma
- Mundipharma Research
- Roche Pharma
- UCB
- German RLS Society
- Deutsche Restless Legs Vereinigung
- German Federal Ministry of Education and Research (BMBF) [0315494A]
- National Institute of Health, USA [PO1-AG21190]
- Canadian Institutes of Health Research (CIHR)
- ESRS [MSM0021620849]
- Ministry of Health of the Czech Republic [IGA NR 8563-5]
- INSERM
- AFM
- [MSM0021620816]
- Grants-in-Aid for Scientific Research [23390397, 21390103, 23659531, 21390303, 22590834] Funding Source: KAKEN
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 x 10(-11), OR = 1.23) and a locus on 16q12.1 (rs3104767, P = 9.4 x 10(-19), OR = 1.35) in a linkage disequilibrium block of 140 kb containing the 59-end of TOX3 and the adjacent non-coding RNA BC034767.
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