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Tilch, E. ; Schormair, B. ; Zhao, C. ; Högl, B.* ; Stefani, A.* ; Berger, K.* ; Trenkwalder, C.* ; Bachmann, C.G.* ; Hornyak, M.* ; Fietze, I.* ; Müller-Nurasyid, M. ; Peters, A. ; Herms, S.* ; Nöthen, M.M.* ; Müller-Myhsok, B.* ; Oexle, K. ; Winkelmann, J.

ExomeChip-based rare variant association study in restless legs syndrome.

Sleep Med. 94, 26-30 (2022)
Postprint DOI PMC
Open Access Green
Restless legs syndrome (RLS) is a common sleep-related movement disorder in populations of European descent and disease risk is strongly influenced by genetic factors. Common variants have been assessed extensively in several genome-wide association studies, but the contribution of rarer genetic variation has not been investigated at this scale. We therefore genotyped a case–control set of 9246 individuals for mainly rare and low frequency exonic variants using the Illumina ExomeChip. However, standard single variant and gene-level association tests were negative. This does not preclude a role of rare variants in RLS, but is likely due to the small sample size and the limited selection of rare genetic variation captured on the array. Therefore, exome or whole genome sequencing should be performed rather than increasing the sample size of ExomeChip studies in order to identify rare risk variants for RLS.
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Publication type Article: Journal article
Document type Scientific Article
Corresponding Author
Keywords Genome-wide Association Study ; Rare Variant Association Study ; Restless Legs Syndrome ; Rls
ISSN (print) / ISBN 1389-9457
e-ISSN 1878-5506
Journal Sleep Medicine
Quellenangaben Volume: 94, Issue: , Pages: 26-30 Article Number: , Supplement: ,
Publisher Elsevier
Non-patent literature Publications
Reviewing status Peer reviewed
Institute(s) Institute of Neurogenomics (ING)
Institute of Genetic Epidemiology (IGE)
Institute of Epidemiology II (EPI2)
Grants Heinz Nixdorf Stiftung
Münchner Zentrum für Gesundheitswissenschaften, Ludwig-Maximilians-Universität München
Deutsches Forschungszentrum für Gesundheit und Umwelt, Helmholtz Zentrum München
Vifor Pharma
Bundesministerium für Bildung und Forschung
Deutsche Forschungsgemeinschaft
Roche
Restless Legs Syndrome Foundation
Swiss RLS Patient Association