Stefansson Hreinn, Steinberg Stacy, Petursson Hjorvar, Gustafsson Omar, Gudjonsdottir Iris H, Jonsdottir Gudrun A, Palsson Stefan T, Jonsson Thorlakur, Saemundsdottir Jona, Bjornsdottir Gyda, Böttcher Yvonne, Thorlacius Theodora, Haubenberger Dietrich, Zimprich Alexander, Auff Eduard, Hotzy Christoph, Testa Claudia M, Miyatake Lisa A, Rosen Ami R, Kristleifsson Kristleifur, Rye David, Asmus Friedrich, Schöls Ludger, Dichgans Martin, Jakobsson Finnbogi, Benedikz John, Thorsteinsdottir Unnur, Gulcher Jeffrey, Kong Augustine, Stefansson Kari
deCODE genetics, Sturlugata 8, IS-101 Reykjavík, Iceland.
Nat Genet. 2009 Mar;41(3):277-9. doi: 10.1038/ng.299. Epub 2009 Feb 1.
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]
我们在LINGO1中鉴定出一个与特发性震颤存在全基因组显著关联(P = 1.2×10⁻⁹,比值比 = 1.55)的标记物。LINGO1对神经元存活具有强大的负性调节作用,并且在调节中枢神经系统轴突再生和少突胶质细胞成熟方面也很重要。在Lingo1基因敲除小鼠模型中观察到的轴突完整性增加突出了LINGO1在特发性震颤病理生理学中的潜在作用。