The alpha-synuclein gene in multiple system atrophy.
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.


METHODS
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.


CONCLUSIONS
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.
Ozawa
T
T
Department of Molecular Neuroscience, Institute of Neurology, London, UK.
Healy
D G
DG
Abou-Sleiman
P M
PM
Ahmadi
K R
KR
Quinn
N
N
Lees
A J
AJ
Shaw
K
K
Wullner
U
U
Berciano
J
J
Moller
J C
JC
Kamm
C
C
Burk
K
K
Josephs
K A
KA
Barone
P
P
Tolosa
E
E
Goldstein
D B
DB
Wenning
G
G
Geser
F
F
Holton
J L
JL
Gasser
T
T
Revesz
T
T
Wood
N W
NW
D015870:Gene Expression / Q000235:genetics; D005838:Genotype; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D015810:Linkage Disequilibrium / Q000235:genetics; D019578:Multiple System Atrophy / Q000378:metabolism* / Q000473:pathology*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D016324:Sequence Tagged Sites; D051844:alpha-Synuclein / Q000235:genetics*
D051844:alpha-Synuclein