SNCA variants are associated with increased risk for multiple system atrophy.
To test whether the synucleinopathies Parkinson's disease and multiple system atrophy (MSA) share a common genetic etiology, we performed a candidate single nucleotide polymorphism (SNP) association study of the 384 most associated SNPs in a genome-wide association study of Parkinson's disease in 413 MSA cases and 3,974 control subjects. The 10 most significant SNPs were then replicated in additional 108 MSA cases and 537 controls. SNPs at the SNCA locus were significantly associated with risk for increased risk for the development of MSA (combined p = 5.5 x 10(-12); odds ratio 6.2) [corrected].
Scholz
Sonja W
SW
Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, 35 Convent Drive, Bethesda, MD 20892, USA. scholzs@mail.nih.gov
Houlden
Henry
H
Schulte
Claudia
C
Sharma
Manu
M
Li
Abi
A
Berg
Daniela
D
Melchers
Anna
A
Paudel
Reema
R
Gibbs
J Raphael
JR
Simon-Sanchez
Javier
J
Paisan-Ruiz
Coro
C
Bras
Jose
J
Ding
Jinhui
J
Chen
Honglei
H
Traynor
Bryan J
BJ
Arepalli
Sampath
S
Zonozi
Ryan R
RR
Revesz
Tamas
T
Holton
Janice
J
Wood
Nick
N
Lees
Andrew
A
Oertel
Wolfgang
W
Wüllner
Ullrich
U
Goldwurm
Stefano
S
Pellecchia
Maria Teresa
MT
Illig
Thomas
T
Riess
Olaf
O
Fernandez
Hubert H
HH
Rodriguez
Ramon L
RL
Okun
Michael S
MS
Poewe
Werner
W
Wenning
Gregor K
GK
Hardy
John A
JA
Singleton
Andrew B
AB
Del Sorbo
Francesca
F
Schneider
Susanne
S
Bhatia
Kailash P
KP
Gasser
Thomas
T
D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D055106:Genome-Wide Association Study / Q000379:methods; D005838:Genotype; D006801:Humans; D008297:Male; D019578:Multiple System Atrophy / Q000235:genetics*; D016017:Odds Ratio; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D012306:Risk; D051844:alpha-Synuclein / Q000235:genetics*
C497604:SNCA protein, human; D051844:alpha-Synuclein