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

Autor: Stefansson H; deCODE genetics, Sturlugata 8, IS-101 Reykjavík, Iceland., 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, Stefansson K
Jazyk: angličtina
Zdroj: Nature genetics [Nat Genet] 2009 Mar; Vol. 41 (3), pp. 277-9. Date of Electronic Publication: 2009 Feb 01.
DOI: 10.1038/ng.299
Abstrakt: 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]
Databáze: MEDLINE