Case-control study of the ubiquitin carboxy-terminal hydrolase L1 gene in Parkinson's disease.
We investigated the association of PD with a recently reported I93M mutation of the ubiquitin carboxy-terminal hydrolase L1 (UCH-L1) gene, and with a new and common polymorphic variant S18Y of the same gene. We did not identify the I93M mutation in any of 139 unrelated PD cases or 113 controls. However, S18Y polymorphism carriers had significantly lower risk of PD (odds ratio = 0.53; p = 0.03), and the risk reduction was greater for younger onset cases.
Maraganore
D M
DM
Department of Neurology, Mayo Clinic and Mayo Foundation, Rochester, MN 55905, USA. dmaraganore@mayo.edu
Farrer
M J
MJ
Hardy
J A
JA
Lincoln
S J
SJ
McDonnell
S K
SK
Rocca
W A
WA
D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D016022:Case-Control Studies; D005260:Female; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D016017:Odds Ratio; D010300:Parkinson Disease / Q000235:genetics*; D011110:Polymorphism, Genetic; D012307:Risk Factors; D013869:Thiolester Hydrolases / Q000235:genetics*; D043222:Ubiquitin Thiolesterase
D013869:Thiolester Hydrolases; D043222:Ubiquitin Thiolesterase