{"doi":"10.1002/mds.29968","title":"Genetic Risk Factors in Isolated Dystonia Escape Genome‐Wide Association Studies","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. © 2024 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.","journal":"Movement Disorders","year":2024,"id":466379,"datarank":0.0,"base_score":0.0,"endowment":0.0,"self_citation_contribution":0.0,"citation_network_contribution":0.0,"self_endowment_contribution":0.0,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":4,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":0.8596,"is_data_producer":false,"deposit_databanks":null,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2024-01-01","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":17495,"name":"Katja Lohmann","orcid":"0000-0002-5121-1460","position":1,"is_corresponding":false},{"id":1030664,"name":"Eva‐Juliane Vollstedt","orcid":"0000-0002-6898-9201","position":2,"is_corresponding":false},{"id":804044,"name":"Tobias Reinberger","orcid":"0000-0002-6237-0803","position":3,"is_corresponding":false},{"id":1298136,"name":"Lisa‐Marie Nuxoll","orcid":"0000-0003-0167-6638","position":4,"is_corresponding":false},{"id":694106,"name":"Gamze Kilic‐Berkmen","orcid":"0000-0002-9156-5706","position":5,"is_corresponding":false},{"id":52686,"name":"Joel S. 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