{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Laabs BH"],"funding":["Aligning Science Across Parkinson's","Bundesministerium für Bildung und Forschung","NIDCR NIH HHS","NCATS NIH HHS","NIA NIH HHS","Aligning Science Across Parkinson&apos;s","National Institutes of Health","European Commission","National Institute for Neurological Research, Czech Republic","Deutsche Forschungsgemeinschaft","European Union","NIDCD NIH HHS","Technical University of Munich-Institute for Advanced Study","European Joint Programme on Rare Diseases","NINDS NIH HHS","NIH HHS"],"pagination":["2110-2116"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC11975433"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["39(11)"],"pubmed_abstract":["<h4>Background</h4>Despite considerable heritability, previous smaller genome-wide association studies (GWASs) have not identified any robust genetic risk factors for isolated dystonia.<h4>Objective</h4>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.<h4>Methods</h4>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.<h4>Results</h4>This GWAS identified no common genome-wide significant loci that could be replicated despite su"],"journal":["Movement disorders : official journal of the Movement Disorder Society"],"pubmed_title":["Genetic Risk Factors in Isolated Dystonia Escape Genome-Wide Association Studies."],"pmcid":["PMC11975433"],"funding_grant_id":["R01 NS122943","TR001456","NS116025","R01 DC019353","R01 NS124228","NS095445","R01 NS088160","R44 AG080861","R01 AG044546","U54 NS065701","NS065701","R01NS026656","R01 DC012545","U01 AG058922","U01 NS102035","R01DC011805","R01 DE030464","P01 NS087997","01GM1514A","R01 NS121120","R01NS088160","01GM2302","K23 AG059891","RF1 AG058501","RF1 AG053303","EXC2167","P01NS087997","R01 DC011805","R01DC012545","FOR2488","U54 NS116025","LX22NPO5107","R01 NS026656","U54 TR001456","P01 AG003991"],"pubmed_authors":["Bellows S","Pirio Richardson SE","Reinberger T","Gasser T","Volkmann J","Boesch S","Vollstedt EJ","Altenmuller E","Feuerstein JS","Mahajan A","Haslinger B","Zeuner KE","Hinrichs F","Sharma N","Frank S","Munchau A","Espay AJ","Saunders Pullman R","Cruchaga C","Schormair B","Perlmutter JS","Zittel S","Jech R","Kuhn AA","Konig IR","Kollewe K","Laabs BH","Kamm C","Wagle Shukla A","Winkelmann J","Sichani AH","Franke A","Ferbert A","Zech M","Sun YV","Bruggemann N","Kaiser F","Multhaupt-Buell T","Lohmann E","Kilic-Berkmen G","Raymond D","Simonyan K","Loens S","Dobricic V","LeDoux MS","Jinnah HA","Grozinger A","Lohmann K","Kasten M","Duque KR","Bressman SB","Klein C","Baumer T","Ozelius LJ","Pantelyat A","Reich SG","Wright LJ","Nuxoll LM"],"additional_accession":[]},"is_claimable":false,"name":"Genetic Risk Factors in Isolated Dystonia Escape Genome-Wide Association Studies.","description":"<h4>Background</h4>Despite considerable heritability, previous smaller genome-wide association studies (GWASs) have not identified any robust genetic risk factors for isolated dystonia.<h4>Objective</h4>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.<h4>Methods</h4>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.<h4>Results</h4>This GWAS identified no common genome-wide significant loci that could be replicated despite su","dates":{"release":"2024-01-01T00:00:00Z","publication":"2024 Nov","modification":"2026-06-30T03:24:15.218Z","creation":"2026-06-30T03:16:38.766Z"},"accession":"S-EPMC11975433","cross_references":{"pubmed":["39287592"],"doi":["10.1002/mds.29968"]}}