Case-control study of UCHL1 S18Y variant in Parkinson's disease
Tan E.-K. Puong K.-Y. Fook-Chong S. Chua E. Shen H. Yuen Y. Pavanni R. Wong M.-C. Puvan K. Zhao Y.
Puong K.-Y.
Fook-Chong S.
Chua E.
Shen H.
Yuen Y.
Wong M.-C.
Puvan K.
Zhao Y.
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Alternative Title
Abstract
A recent meta analysis observed a greater significant inverse association of the ubiquitin carboxy-terminal hydrolase L1 (UCHL1) S18Y variant with Parkinson's disease (PD) for Asian (predominantly Japanese) populations compared with Caucasian populations. We performed an independent case-control study in 335 PD and 341 control subjects with data from a Chinese population to investigate the age-of-onset effect of the UCHL1 variant in PD. The Y/Y and Y/S genotypes were less frequent in the PD young-onset group than in controls and the frequency of the Y alleles was higher in young controls compared to young-onset PD (age at examination ? 65 years; P = 0.003). Multivariate analysis revealed the Y/Y genotype was significantly lower (P = 0.008) in the young-onset PD (Y/Y vs. S/S: odds ratio [OR]: 0.42; 95% confidence interval [CI]: 0.24, 0.74; S/Y vs. S/S: OR: 0.66, 95% CI: 0.41, 1.08) compared with controls but this difference was not seen for the late-onset PD. Kaplan-Meier analysis carried out on PD subjects demonstrated that the Y/Y genotype was associated with a later onset of PD than Y/S plus S/S genotypes (P = 0.05). We provided an independent confirmation of the protective effect of the UCHL1 S18Y variant (Y/Y genotype) against PD in young Chinese subjects. Further functional studies of S18Y variant in both cell and animal models will be of interest. � 2006 Movement Disorder Society.
Keywords
Parkinson's disease, Polymorphism survival, UCHL1
Source Title
Movement Disorders
Publisher
Wiley
Series/Report No.
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Date
2006
DOI
10.1002/mds.21064
Type
Article