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Laabs, B.H.* ; Lohmann, K.* ; Vollstedt, E.J.* ; Reinberger, T.* ; Nuxoll, L.M.* ; Kilic-Berkmen, G.* ; Perlmutter, J.S.* ; Loens, S.* ; Cruchaga, C.* ; Franke, A.* ; Dobricic, V.* ; Hinrichs, F.* ; Grözinger, A.* ; Altenmüller, E.* ; Bellows, S.* ; Boesch, S.* ; Bressman, S.B.* ; Duque, K.R.* ; Espay, A.J.* ; Ferbert, A.* ; Feuerstein, J.S.* ; Frank, S.* ; Gasser, T.* ; Haslinger, B.* ; Jech, R.* ; Kaiser, F.* ; Kamm, C.* ; Kollewe, K.* ; Kühn, A.A.* ; LeDoux, M.S.* ; Lohmann, E.* ; Mahajan, A.* ; Munchau, A.* ; Multhaupt-Buell, T.* ; Pantelyat, A.* ; Pirio Richardson, S.E.* ; Raymond, D.* ; Reich, S.G.* ; Saunders Pullman, R.* ; Schormair, B. ; Sharma, N.* ; Sichani, A.H.* ; Simonyan, K.* ; Volkmann, J.* ; Wagle Shukla, A.* ; Winkelmann, J. ; Wright, L.J.* ; Zech, M. ; Zeuner, K.E.* ; Zittel, S.* ; Kasten, M.* ; Sun, Y.V.* ; Bäumer, T.* ; Brüggemann, N.* ; Ozelius, L.J.* ; Jinnah, H.A.* ; Klein, C.* ; König, I.R.*

Genetic risk factors in isolated dystonia escape genome-wide association studies.

Mov. Disord., DOI: 10.1002/mds.29968 (2024)
Publ. Version/Full Text DOI PMC
Open Access Gold (Paid Option)
Creative Commons Lizenzvertrag
BACKGROUND: Despite considerable heritability, previous smaller genome-wide association studies (GWASs) have not identified any robust genetic risk factors for isolated dystonia. OBJECTIVE: The objective of this study was to perform a large-scale GWAS in a well-characterized, multicenter sample of >6000 individuals to identify genetic risk factors for isolated dystonia. METHODS: Array-based GWASs were performed on autosomes for 4303 dystonia participants and 2362 healthy control subjects of European ancestry with subgroup analysis based on age at onset, affected body regions, and a newly developed clinical score. Another 736 individuals were used for validation. RESULTS: This GWAS identified no common genome-wide significant loci that could be replicated despite sufficient power to detect meaningful effects. Power analyses imply that the effects of individual variants are likely very small. CONCLUSIONS: Moderate single-nucleotide polymorphism-based heritability indicates that common variants do not contribute to isolated dystonia in this cohort. Sequence-based GWASs (eg, by whole-genome sequencing) might help to better understand the genetic basis. © 2024 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.
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Publication type Article: Journal article
Document type Scientific Article
Corresponding Author
Keywords Gwas ; Age At Onset ; Case–control ; Clinical Score ; Isolated Dystonia; Musicians Dystonia; Mutations; Onset
ISSN (print) / ISBN 0885-3185
e-ISSN 1531-8257
Journal Movement Disorders
Publisher Wiley
Publishing Place 111 River St, Hoboken 07030-5774, Nj Usa
Non-patent literature Publications
Reviewing status Peer reviewed
Institute(s) Institute of Neurogenomics (ING)
Grants Technical University of Munich-Institute for Advanced Study
Aligning Science Across Parkinson's
European Union
European Joint Programme on Rare Diseases