Variant in the sequence of the LINGO1 gene confers risk of essential tremor.
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]
Stefansson
Hreinn
H
deCODE genetics, Sturlugata 8, IS-101 Reykjavík, Iceland.
Steinberg
Stacy
S
Petursson
Hjorvar
H
Gustafsson
Omar
O
Gudjonsdottir
Iris H
IH
Jonsdottir
Gudrun A
GA
Palsson
Stefan T
ST
Jonsson
Thorlakur
T
Saemundsdottir
Jona
J
Bjornsdottir
Gyda
G
Böttcher
Yvonne
Y
Thorlacius
Theodora
T
Haubenberger
Dietrich
D
Zimprich
Alexander
A
Auff
Eduard
E
Hotzy
Christoph
C
Testa
Claudia M
CM
Miyatake
Lisa A
LA
Rosen
Ami R
AR
Kristleifsson
Kristleifur
K
Rye
David
D
Asmus
Friedrich
F
Schöls
Ludger
L
Dichgans
Martin
M
Jakobsson
Finnbogi
F
Benedikz
John
J
Thorsteinsdottir
Unnur
U
Gulcher
Jeffrey
J
Kong
Augustine
A
Stefansson
Kari
K
D000818:Animals; D001317:Austria; D020329:Essential Tremor / Q000235:genetics*; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005828:Genetics, Population; D055106:Genome-Wide Association Study; D005858:Germany; D006801:Humans; D007055:Iceland; D015810:Linkage Disequilibrium; D008565:Membrane Proteins / Q000235:genetics*; D051379:Mice; D018345:Mice, Knockout; D009419:Nerve Tissue Proteins / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000502:physiology; D012307:Risk Factors; D014481:United States
C482293:LINGO1 protein, human; D008565:Membrane Proteins; D009419:Nerve Tissue Proteins