{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,12]],"date-time":"2026-06-12T01:22:51Z","timestamp":1781227371592,"version":"3.54.1"},"reference-count":22,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2021,7,28]],"date-time":"2021-07-28T00:00:00Z","timestamp":1627430400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100004807","name":"California Department of Fish and Game","doi-asserted-by":"publisher","award":["FOR2488"],"award-info":[{"award-number":["FOR2488"]}],"id":[{"id":"10.13039\/100004807","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000065","name":"National Institute of Neurological Disorders and Stroke","doi-asserted-by":"publisher","award":["NS065701"],"award-info":[{"award-number":["NS065701"]}],"id":[{"id":"10.13039\/100000065","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000065","name":"National Institute of Neurological Disorders and Stroke","doi-asserted-by":"publisher","award":["NS096455"],"award-info":[{"award-number":["NS096455"]}],"id":[{"id":"10.13039\/100000065","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000065","name":"National Institute of Neurological Disorders and Stroke","doi-asserted-by":"publisher","award":["NS116025"],"award-info":[{"award-number":["NS116025"]}],"id":[{"id":"10.13039\/100000065","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000065","name":"National Institute of Neurological Disorders and Stroke","doi-asserted-by":"publisher","award":["TR001456"],"award-info":[{"award-number":["TR001456"]}],"id":[{"id":"10.13039\/100000065","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["movementdisorders.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Movement Disorders"],"published-print":{"date-parts":[[2021,12]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Several monogenic causes for isolated dystonia have been identified, but they collectively account for only a small proportion of cases. Two genome\u2010wide association studies have reported a few potential dystonia risk loci; but conclusions have been limited by small sample sizes, partial coverage of genetic variants, or poor reproducibility.<\/jats:p><\/jats:sec><jats:sec><jats:title>Objective<\/jats:title><jats:p>To identify robust genetic variants and loci in a large multicenter cervical dystonia cohort using a genome\u2010wide approach.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We performed a genome\u2010wide association study using cervical dystonia samples from the Dystonia Coalition. Logistic and linear regressions, including age, sex, and population structure as covariates, were employed to assess variant\u2010 and gene\u2010based genetic associations with disease status and age at onset. We also performed a replication study for an identified genome\u2010wide significant signal.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>After quality control, 919 cervical dystonia patients compared with 1491 controls of European ancestry were included in the analyses. We identified one genome\u2010wide significant variant (rs2219975, chromosome 3, upstream of <jats:italic>COL8A1<\/jats:italic>, <jats:italic>P<\/jats:italic>\u2010value 3.04\u2009\u00d7\u200910<jats:sup>\u22128<\/jats:sup>). The association was not replicated in a newly genotyped sample of 473 cervical dystonia cases and 481 controls. Gene\u2010based analysis identified <jats:italic>DENND1A<\/jats:italic> to be significantly associated with cervical dystonia (<jats:italic>P<\/jats:italic>\u2010value 1.23\u2009\u00d7\u200910<jats:sup>\u22126<\/jats:sup>). One low\u2010frequency variant was associated with lower age\u2010at\u2010onset (16.4\u2009\u00b1\u20092.9\u2009years, <jats:italic>P<\/jats:italic>\u2010value\u00a0=\u00a03.07\u2009\u00d7\u200910<jats:sup>\u22128<\/jats:sup>, minor allele frequency\u00a0=\u00a00.01), located within the <jats:italic>GABBR2<\/jats:italic> gene on chromosome 9 (rs147331823).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>The genetic underpinnings of cervical dystonia are complex and likely consist of multiple distinct variants of small effect sizes. Larger sample sizes may be needed to provide sufficient statistical power to address the presumably multi\u2010genic etiology of cervical dystonia. \u00a9 2021 International Parkinson and Movement Disorder Society<\/jats:p><\/jats:sec>","DOI":"10.1002\/mds.28732","type":"journal-article","created":{"date-parts":[[2021,7,28]],"date-time":"2021-07-28T16:03:43Z","timestamp":1627488223000},"page":"2795-2801","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["A Multi\u2010center Genome\u2010wide Association Study of Cervical Dystonia"],"prefix":"10.1002","volume":"36","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2838-1824","authenticated-orcid":false,"given":"Yan V.","family":"Sun","sequence":"first","affiliation":[{"name":"Department of Epidemiology Emory University Rollins School of Public Health  Atlanta Georgia USA"},{"name":"Department of Biomedical Informatics Emory University School of Medicine  Atlanta 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