biostudies-literatureLaabs BHAligning Science Across Parkinson'sBundesministerium für Bildung und ForschungNIDCR NIH HHSNCATS NIH HHSNIA NIH HHSAligning Science Across Parkinson&apos;sNational Institutes of HealthEuropean CommissionNational Institute for Neurological Research, Czech RepublicDeutsche ForschungsgemeinschaftEuropean UnionNIDCD NIH HHSTechnical University of Munich-Institute for Advanced StudyEuropean Joint Programme on Rare DiseasesNINDS NIH HHSNIH HHS2110-2116https://www.ebi.ac.uk/biostudies/studies/S-EPMC11975433biostudies-literatureUnknown39(11)<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 suMovement disorders : official journal of the Movement Disorder SocietyGenetic Risk Factors in Isolated Dystonia Escape Genome-Wide Association Studies.PMC11975433R01 NS122943TR001456NS116025R01 DC019353R01 NS124228NS095445R01 NS088160R44 AG080861R01 AG044546U54 NS065701NS065701R01NS026656R01 DC012545U01 AG058922U01 NS102035R01DC011805R01 DE030464P01 NS08799701GM1514AR01 NS121120R01NS08816001GM2302K23 AG059891RF1 AG058501RF1 AG053303EXC2167P01NS087997R01 DC011805R01DC012545FOR2488U54 NS116025LX22NPO5107R01 NS026656U54 TR001456P01 AG003991Bellows SPirio Richardson SEReinberger TGasser TVolkmann JBoesch SVollstedt EJAltenmuller EFeuerstein JSMahajan AHaslinger BZeuner KEHinrichs FSharma NFrank SMunchau AEspay AJSaunders Pullman RCruchaga CSchormair BPerlmutter JSZittel SJech RKuhn AAKonig IRKollewe KLaabs BHKamm CWagle Shukla AWinkelmann JSichani AHFranke AFerbert AZech MSun YVBruggemann NKaiser FMulthaupt-Buell TLohmann EKilic-Berkmen GRaymond DSimonyan KLoens SDobricic VLeDoux MSJinnah HAGrozinger ALohmann KKasten MDuque KRBressman SBKlein CBaumer TOzelius LJPantelyat AReich SGWright LJNuxoll LMfalseGenetic Risk Factors in Isolated Dystonia Escape Genome-Wide Association Studies.<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 su2024-01-01T00:00:00Z2024 Nov2026-06-30T03:24:15.218Z2026-06-30T03:16:38.766ZS-EPMC119754333928759210.1002/mds.29968