Article
GWAS meta-analysis reveals key risk loci in essential tremor pathogenesis.
Communications biology - 26 Apr 2024
Skuladottir Astros Th, Stefansdottir Lilja, Halldorsson Gisli H, Stefansson Olafur A, Bjornsdottir Anna, Jonsson Palmi, Palmadottir Vala, Thorgeirsson Thorgeir E, Walters G Bragi, Gisladottir Rosa S, Bjornsdottir Gyda, Jonsdottir Gudrun A, Sulem Patrick, Gudbjartsson Daniel F, Knowlton Kirk U, Jones David A, Ottas Aigar, Pedersen Ole B, Didriksen Maria, Brunak Søren, Banasik Karina, Hansen Thomas Folkmann, Erikstrup Christian, Haavik Jan, Andreassen Ole A, Rye David, Igland Jannicke, Ostrowski Sisse Rye, Milani Lili A, Nadauld Lincoln D, Stefansson Hreinn, Stefansson Kari
Abstract excerpt
Essential tremor (ET) is a prevalent neurological disorder with a largely unknown underlying biology. In this genome-wide association study meta-analysis, comprising 16,480 ET cases and 1,936,173 controls from seven datasets, we identify 12 sequence variants at 11 loci. Evaluating mRNA expression, splicing, plasma protein levels, and coding effects, we highlight seven putative causal genes at these loci,...
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