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LINGO1 and LINGO2 variants are associated with essential tremor and Parkinson disease
- 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
- Subjects :
- Adult
Male
Oncology
medicine.medical_specialty
Essential Tremor
Nerve Tissue Proteins
Locus (genetics)
Biology
Polymorphism, Single Nucleotide
Article
Genetic determinism
Central nervous system disease
Cellular and Molecular Neuroscience
Internal medicine
Odds Ratio
Genetics
medicine
Humans
Genetics (clinical)
LINGO1
Aged
Genetic association
Aged, 80 and over
Models, Genetic
Essential tremor
Haplotype
Membrane Proteins
Parkinson Disease
Sequence Analysis, DNA
Odds ratio
Middle Aged
medicine.disease
Haplotypes
Female
Subjects
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