Variant in the sequence of the LINGO1 gene confers risk of essential tremor

• DOI: 10.1038/ng.299
• Publication Date: 2009-02-01T19:00:04Z
• Authors: Hreinn Stefansson; Stacy Steinberg; Hjorvar Petursson; Omar Gustafsson; Iris H Gudjonsdottir; Gudrun A Jonsdottir; Stefan T Palsson; Thorlakur Jonsson; Jona Saemundsdottir; Gyda Bjornsdottir; Yvonne Böttcher; Theodora Thorlacius; Dietrich Haubenbe...; Alexander Zimprich; Eduard Auff; Christoph Hotzy; Claudia M Testa; Lisa A Miyatake; Ami R Rosen; Kristleifur Krist...; David Rye; Friedrich Asmus; Ludger Schöls; Martin Dichgans; Finnbogi Jakobsson; John Benedikz; Unnur Thorsteinsd...; Jeffrey Gulcher; Augustine Kong; Kari Stefansson
• Keywords: Mice, Knockout; 0301 basic medicine; Essential Tremor; Iceland; Membrane Proteins; Nerve Tissue Proteins; Polymorphism, Single Nucleotide; Linkage Disequilibrium; United States; Mice; 03 medical and health sciences; Genetics, Population; Gene Frequency; Risk Factors; Austria; Germany; Animals; Humans; Genetic Predisposition to Disease; Genome-Wide Association Study

We identified a marker in LINGO1 showing genome-wide significant association (P = 1.2 x 10(-9), odds ratio = 1.55) with essential tremor. LINGO1 has potent, negative regulatory influences on neuronal survival and is also important in regulating both central-nervous-system axon regeneration and oligodendrocyte maturation. Increased axon integrity observed in Lingo1 mouse [corrected] knockout models highlights the potential role of LINGO1 in the pathophysiology of ET [corrected]