1. Variant in the sequence of the LINGO1 gene confers risk of essential tremor.
- Author
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Stefansson H, Steinberg S, Petursson H, Gustafsson O, Gudjonsdottir IH, Jonsdottir GA, Palsson ST, Jonsson T, Saemundsdottir J, Bjornsdottir G, Böttcher Y, Thorlacius T, Haubenberger D, Zimprich A, Auff E, Hotzy C, Testa CM, Miyatake LA, Rosen AR, Kristleifsson K, Rye D, Asmus F, Schöls L, Dichgans M, Jakobsson F, Benedikz J, Thorsteinsdottir U, Gulcher J, Kong A, and Stefansson K
- Subjects
- Animals, Austria, Gene Frequency, Genetics, Population, Genome-Wide Association Study, Germany, Humans, Iceland, Linkage Disequilibrium, Mice, Mice, Knockout, Polymorphism, Single Nucleotide physiology, Risk Factors, United States, Essential Tremor genetics, Genetic Predisposition to Disease, Membrane Proteins genetics, Nerve Tissue Proteins genetics
- Abstract
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]
- Published
- 2009
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