rs118023704 - GRIK1 - CLDN17

Magnitude 2.2 · 1 study on file

Reported associations

• Genetic Risk Factors in Isolated Dystonia Escape Genome-Wide Association Studies - Unknown journal (n.d.) · Unknown authors · PubMed 39287592

  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

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