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GWAS Study

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

Stefansson H, Steinberg S, Petursson H et al.

19182806 PubMed ID
GWAS Study Type
16550 Participants
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Chapter I

Publication Details

Comprehensive information about this research publication

Authors

SH
Stefansson H
SS
Steinberg S
PH
Petursson H
GO
Gustafsson O
GI
Gudjonsdottir IH
JG
Jonsdottir GA
PS
Palsson ST
JT
Jonsson T
SJ
Saemundsdottir J
BG
Bjornsdottir G
BY
Böttcher Y
TT
Thorlacius T
HD
Haubenberger D
ZA
Zimprich A
AE
Auff E
HC
Hotzy C
TC
Testa CM
ML
Miyatake LA
RA
Rosen AR
KK
Kristleifsson K
RD
Rye D
AF
Asmus F
SL
Schöls L
DM
Dichgans M
JF
Jakobsson F
BJ
Benedikz J
TU
Thorsteinsdottir U
GJ
Gulcher J
KA
Kong A
SK
Stefansson K
Chapter II

Abstract

Summary of the research findings

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]

452 European ancestry cases, 14,378 European ancestry controls

Chapter III

Study Statistics

Key metrics and study information

16550
Total Participants
GWAS
Study Type
Yes
Replicated
301 European ancestry cases, 1,419 European ancestry controls
Replication Participants
European
Ancestry
U.S., Iceland, Germany, Austria
Recruitment Country
Chapter IV

Analysis

Comprehensive review of health and genetic findings

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Analysis In Progress

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