1. The α-synuclein gene in multiple system atrophy.
- Author
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Ozawa, T., Healy, D. G., Abou-Sleiman, P. M., Ahmadi, K. R., Quinn, N., Lees, A. J., Shaw, K., Wullner, U., Berciano, J., Moller, J. C., Kamm, C., Burk, K., Josephs, K. A., Barone, P., Tolosa, E., Goldstein, D. B., Wenning, G., Geser, F., Holton, J. L., and Gasser, T.
- Subjects
GENES ,GENETIC polymorphisms ,ETIOLOGY of diseases ,PATIENTS ,NUCLEOTIDES ,PATHOLOGY - Abstract
Background: The formation of α-synuclein aggregates may be a critical event in the pathogenesis of multiple system atrophy (MSA). However, the role of this gene in the aetiology of MSA is unknown and untested. Method: The linkage disequilibrium (LD) structure of the α-synuclein gene was established and LD patterns were used to identify a set of tagging single nucleotide polymorphisms (SNPs) that represent 95% of the haplotype diversity across the entire gene. The effect of polymorphisms on the pathological expression of MSA in pathologically confirmed cases was also evaluated. Results and conclusion: In 253 Gilman probable or definite MSA patients, 457 possible, probable, and definite MSA cases and 1472 controls, a frequency difference for the individual tagging SNPs or tag-defined haplotypes was not detected. No effect was observed of polymorphisms on the pathological expression of MSA in pathologically confirmed cases. [ABSTRACT FROM AUTHOR]
- Published
- 2006
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