UCHL-1 gene in multiple system atrophy: A haplotype tagging approach

To date, the etiology of multiple system atrophy (MSA) has proved impenetrable. We investigated the role of genetic variation in the UCHL‐1 gene in MSA and looked for the presence of disease susceptibility alleles. We determined the linkage disequilibrium structure of the gene and employed a haploty...

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Published in:Movement disorders 2005-10, Vol.20 (10), p.1338-1343
Main Authors: Healy, Daniel G., Abou-Sleiman, Patrick M., Quinn, Niall, Ahmadi, Kourosh R., Ozawa, Tetsutaro, Kamm, Christoph, Wullner, Ullrich, Oertel, Wolfgang H., Burk, Katrin, Dupont, Erik, Pellecchia, Maria T., Tolosa, Eduardo, Gasser, Thomas, Holton, Janice L., Revesz, Tamas, Goldstein, David B., Lees, Andrew J., Wood, Nicholas W.
Format: Article
Language:English
Subjects:
Adult
Aged
Aged, 80 and over
Biological and medical sciences
Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases
Expressed Sequence Tags - metabolism
Female
Gene Library
Genotype
haplotype diversity
haplotype tagging
Haplotypes - genetics
Humans
Linkage Disequilibrium
Male
Medical sciences
Middle Aged
Multiple sclerosis and variants. Guillain barré syndrome and other inflammatory polyneuropathies. Leukoencephalitis
multiple system atrophy
Multiple System Atrophy - genetics
Multiple System Atrophy - metabolism
Neurology
Polymorphism, Single Nucleotide - genetics
Ubiquitin Thiolesterase - genetics
UCHL-1
UCHL‐1, haplotype tagging
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Summary:To date, the etiology of multiple system atrophy (MSA) has proved impenetrable. We investigated the role of genetic variation in the UCHL‐1 gene in MSA and looked for the presence of disease susceptibility alleles. We determined the linkage disequilibrium structure of the gene and employed a haplotype tagging strategy with power to represent 95% of the haplotype diversity. This approach was performed using a set of tagging single nucleotide polymorphisms (SNPs) that can infer the allelic state of all the common SNPs in UCHL‐1 with a high coefficient of determination. This strategy enabled us to scan across the gene and maintain the power to detect signal(s) from any potential functional variant(s). In 257 Gilman‐probable or ‐definite MSA subjects and 1,536 controls, we did not detect a case–control frequency difference for either the tagged haplotypes or for individual tagging SNPs. This search included the S18Y variant of UCHL‐1, which has been reported to be protective in Parkinson's disease. © 2005 Movement Disorder Society
ISSN:0885-3185
1531-8257
DOI:10.1002/mds.20575