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Title: Case-control study of UCHL1 S18Y variant in Parkinson's disease
Authors: Tan E.-K. 
Puong K.-Y.
Fook-Chong S.
Chua E.
Shen H.
Yuen Y.
Pavanni R. 
Wong M.-C.
Puvan K.
Zhao Y.
Keywords: Parkinson's disease
Polymorphism survival
Issue Date: 2006
Publisher: Wiley
Citation: Tan E.-K., Puong K.-Y., Fook-Chong S., Chua E., Shen H., Yuen Y., Pavanni R., Wong M.-C., Puvan K., Zhao Y. (2006). Case-control study of UCHL1 S18Y variant in Parkinson's disease. Movement Disorders 21 (10) : 1765-1768. ScholarBank@NUS Repository.
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.
Source Title: Movement Disorders
ISSN: 0885-3185
DOI: 10.1002/mds.21064
Appears in Collections:Staff Publications

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