Literature DB >> 19182806

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

Hreinn Stefansson1, 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 Haubenberger, Alexander Zimprich, Eduard Auff, Christoph Hotzy, Claudia M Testa, Lisa A Miyatake, Ami R Rosen, Kristleifur Kristleifsson, David Rye, Friedrich Asmus, Ludger Schöls, Martin Dichgans, Finnbogi Jakobsson, John Benedikz, Unnur Thorsteinsdottir, Jeffrey Gulcher, Augustine Kong, Kari Stefansson.   

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]

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Year:  2009        PMID: 19182806      PMCID: PMC3740956          DOI: 10.1038/ng.299

Source DB:  PubMed          Journal:  Nat Genet        ISSN: 1061-4036            Impact factor:   38.330


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