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PubMed · 16543523

The alpha-synuclein gene in multiple system atrophy.

T Ozawa·D G Healy·P M Abou-Sleiman·K R Ahmadi·N Quinn·A J Lees·K Shaw·U Wullner·J Berciano·J C Moller·C Kamm·K Burk·K A Josephs·P Barone·E Tolosa·D B Goldstein·G Wenning·F Geser·J L Holton·T Gasser·T Revesz·N W Wood·European MSA study group
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Abstract

BACKGROUND: The formation of alpha-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 alpha-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.

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Gene ExpressionGenotypeHaplotypesHumansLinkage DisequilibriumMultiple System AtrophyPolymorphism, Single NucleotideSequence Tagged Sitesalpha-SynucleinJournal ArticleResearch Support, Non-U.S. Gov't

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BibTeXRIS

T Ozawa, D G Healy, P M Abou-Sleiman, K R Ahmadi, N Quinn, A J Lees, K Shaw, U Wullner, J Berciano, J C Moller, C Kamm, K Burk, K A Josephs, P Barone, E Tolosa, D B Goldstein, G Wenning, F Geser, J L Holton, T Gasser, T Revesz, N W Wood, European MSA study group. 2006. The alpha-synuclein gene in multiple system atrophy.. https://doi.org/10.1136/jnnp.2005.073528

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