ORCID: https://orcid.org/0000-0002-9265-5738; Lohmann, Katja; Vollstedt, Eva‐Juliane; Reinberger, Tobias; Nuxoll, Lisa‐Marie ORCID: https://orcid.org/0000-0003-0167-6638; Kilic‐Berkmen, Gamze ORCID: https://orcid.org/0000-0002-9156-5706; Perlmutter, Joel S.; Loens, Sebastian ORCID: https://orcid.org/0000-0003-3067-5239; Cruchaga, Carlos ORCID: https://orcid.org/0000-0002-0276-2899; Franke, Andre; Dobricic, Valerija ORCID: https://orcid.org/0000-0001-8559-1097; Hinrichs, Frauke; Grözinger, Anne; Altenmüller, Eckart; Bellows, Steven; Boesch, Sylvia; Bressman, Susan B.; Duque, Kevin R.; Espay, Alberto J. ORCID: https://orcid.org/0000-0002-3389-136X; Ferbert, Andreas; Feuerstein, Jeanne S. ORCID: https://orcid.org/0000-0002-7701-3120; Frank, Samuel ORCID: https://orcid.org/0000-0002-1866-162X; Gasser, Thomas; Haslinger, Bernhard ORCID: https://orcid.org/0000-0002-5513-1839; Jech, Robert ORCID: https://orcid.org/0000-0002-9732-8947; Kaiser, Frank; Kamm, Christoph ORCID: https://orcid.org/0000-0002-7618-2336; Kollewe, Katja; Kühn, Andrea A.; LeDoux, Mark S.; Lohmann, Ebba; Mahajan, Abhimanyu ORCID: https://orcid.org/0000-0001-8807-6672; Münchau, Alexander ORCID: https://orcid.org/0000-0002-3219-2284; Multhaupt‐Buell, Trisha; Pantelyat, Alexander ORCID: https://orcid.org/0000-0002-6427-7485; Pirio Richardson, Sarah E.; Raymond, Deborah; Reich, Stephen G.; Saunders Pullman, Rachel ORCID: https://orcid.org/0000-0001-8132-8806; Schormair, Barbara ORCID: https://orcid.org/0000-0003-0942-5243; Sharma, Nutan; Sichani, Azadeh Hamzehei; Simonyan, Kristina ORCID: https://orcid.org/0000-0001-7444-0437; Volkmann, Jens; Wagle Shukla, Aparna; Winkelmann, Juliane ORCID: https://orcid.org/0000-0002-3074-599X; Wright, Laura J.; Zech, Michael ORCID: https://orcid.org/0000-0001-8112-9153; Zeuner, Kirsten E.; Zittel, Simone ORCID: https://orcid.org/0000-0002-3767-6376; Kasten, Meike; Sun, Yan V.; Bäumer, Tobias; Brüggemann, Norbert ORCID: https://orcid.org/0000-0001-5969-6899; Ozelius, Laurie J.; Jinnah, Hyder A.; Klein, Christine und König, Inke R. ORCID: https://orcid.org/0000-0003-0504-6465
(2024):
Genetic Risk Factors in Isolated Dystonia Escape Genome‐Wide Association Studies.
In: Movement Disorders, Bd. 39, Nr. 11: S. 2110-2116
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Abstract
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.
| Dokumententyp: | Zeitschriftenartikel |
|---|---|
| Fakultät: | Medizin > Munich Cluster for Systems Neurology (SyNergy) |
| Themengebiete: | 600 Technik, Medizin, angewandte Wissenschaften > 610 Medizin und Gesundheit |
| URN: | urn:nbn:de:bvb:19-epub-123219-8 |
| ISSN: | 0885-3185 |
| Sprache: | Englisch |
| Dokumenten ID: | 123219 |
| Datum der Veröffentlichung auf Open Access LMU: | 19. Dez. 2024 07:37 |
| Letzte Änderungen: | 19. Dez. 2024 07:37 |
| DFG: | Gefördert durch die Deutsche Forschungsgemeinschaft (DFG) - 390857198 |
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