A Multi-center Genome-wide Association Study of Cervical Dystonia


 Sun et al.

The Dystonia Coalition conducted the largest genome-wide association study (GWAS) of any type of dystonia to date and attempted to address heterogeneity by relying on a standardized exam and by focusing on a single dystonia subtype, cervical dystonia (CD). Despite these measures, GWAS did not reveal any robust risk variants, indicating a presumably rather small impact of any individual common variant at the population level. It has not yet been associated with dystonia; however, gene-based analysis identified DENND1A on chromosome 9 to be significantly associated with CD. Future association study is warranted to validate the finding. CD is considered a rare disorder, and this study was made possible only by including samples collected through a multicenter collaborative effort.

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