Astros Th Skuladottir, Lilja Stefansdottir, Gisli H Halldorsson, Olafur A Stefansson, Anna Bjornsdottir, Palmi Jonsson, Vala Palmadottir, Thorgeir E Thorgeirsson, G Bragi Walters, Rosa S Gisladottir, Gyda Bjornsdottir, Gudrun A Jonsdottir, Patrick Sulem, Daniel F Gudbjartsson, Kirk U Knowlton, David A Jones, Aigar Ottas, Ole B Pedersen, Maria Didriksen, Søren Brunak, Karina Banasik, Thomas Folkmann Hansen, Christian Erikstrup, Jan Haavik, Ole A Andreassen, David Rye, Jannicke Igland, Sisse Rye Ostrowski, Lili A Milani, Lincoln D Nadauld, Hreinn Stefansson, Kari Stefansson
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, including CA3 and CPLX1. CA3 encodes Carbonic Anhydrase III and carbonic anhydrase inhibitors have been shown to decrease tremors...
April 26, 2024: Communications Biology