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LINGO1 and LINGO2 variants are associated with essential tremor and Parkinson disease

Authors :
Owen A. Ross
Alex Rajput
Bahareh Behrouz
Zbigniew K. Wszolek
Jennifer M. Kachergus
Elan D. Louis
Nancy N. Diehl
Carles Vilariño-Güell
Christian Wider
Barbara Jasinska-Myga
Claudia M. Testa
Matthew J. Farrer
Alexandra I. Soto-Ortolaza
Ryan J. Uitti
Lorraine N. Clark
Stephanie A. Cobb
Joseph Jankovic
Michael G. Heckman
Source :
Neurogenetics, vol. 11, no. 4, pp. 401-408
Publication Year :
2010
Publisher :
Springer Science and Business Media LLC, 2010.

Abstract

Genetic variation in the leucine-rich repeat and Ig domain containing 1 gene (LINGO1) was recently associated with an increased risk of developing essential tremor (ET) and Parkinson disease (PD). Herein, we performed a comprehensive study of LINGO1 and its paralog LINGO2 in ET and PD by sequencing both genes in patients (ET, n = 95; PD, n = 96) and by examining haplotype-tagging single-nucleotide polymorphisms (tSNPs) in a multicenter North American series of patients (ET, n = 1,247; PD, n = 633) and controls (n = 642). The sequencing study identified six novel coding variants in LINGO1 (p.S4C, p.V107M, p.A277T, p.R423R, p.G537A, p.D610D) and three in LINGO2 (p.D135D, p.P217P, p.V565V), however segregation analysis did not support pathogenicity. The association study employed 16 tSNPs at the LINGO1 locus and 21 at the LINGO2 locus. One variant in LINGO1 (rs9652490) displayed evidence of an association with ET (odds ratio (OR) = 0.63; P = 0.026) and PD (OR = 0.54; P = 0.016). Additionally, four other tSNPs in LINGO1 and one in LINGO2 were associated with ET and one tSNP in LINGO2 associated with PD (P

Details

ISSN :
13646753 and 13646745
Volume :
11
Database :
OpenAIRE
Journal :
neurogenetics
Accession number :
edsair.doi.dedup.....7a8f4ee135098d58318d944249f11160
Full Text :
https://doi.org/10.1007/s10048-010-0241-x