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Open Access Research article

UCHL1 S18Y variant is a risk factor for Parkinson’s disease in Japan

Yoshihiro Miyake1*, Keiko Tanaka1, Wakaba Fukushima2, Chikako Kiyohara3, Satoshi Sasaki4, Yoshio Tsuboi5, Tatsuo Yamada5, Tomoko Oeda6, Hiroyuki Shimada7, Nobutoshi Kawamura8, Nobutaka Sakae8, Hidenao Fukuyama9, Yoshio Hirota2, Masaki Nagai10 and the Fukuoka Kinki Parkinson’s Disease Study Group11

Author Affiliations

1 Department of Preventive Medicine and Public Health, Faculty of Medicine, Fukuoka University, Fukuoka, Japan

2 Department of Public Health, Osaka City University Graduate School of Medicine, Osaka, Japan

3 Department of Preventive Medicine, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan

4 Department of Social and Preventive Epidemiology, School of Public Health, The University of Tokyo, Tokyo, Japan

5 Department of Neurology, Faculty of Medicine, Fukuoka University, Fukuoka, Japan

6 Department of Neurology, Clinical Research Institute, Utano National Hospital, Kyoto, Japan

7 Department of Geriatrics and Neurology, Osaka City University Graduate School of Medicine, Osaka, Japan

8 Department of Neurology, Neurological Institute, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan

9 Human Brain Research Center, Kyoto University Graduate School of Medicine, Kyoto, Japan

10 Department of Public Health, Saitama Medical University Faculty of Medicine, Saitama, Japan

11 Other members of the Study Group are listed in the Appendix

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BMC Neurology 2012, 12:62  doi:10.1186/1471-2377-12-62

Published: 28 July 2012

Abstract

Background

A recent meta-analysis on the UCHL1 S18Y variant and Parkinson’s disease (PD) showed a significant inverse association between the Y allele and PD; the individual studies included in that meta-analysis, however, have produced conflicting results. We examined the relationship between UCHL1 S18Y single nucleotide polymorphism (SNP) and sporadic PD in Japan.

Methods

Included were 229 cases within 6 years of onset of PD, defined according to the UK PD Society Brain Bank clinical diagnostic criteria. Controls were 357 inpatients and outpatients without neurodegenerative disease. Adjustment was made for sex, age, region of residence, smoking, and caffeine intake.

Results

Compared with subjects with the CC or CA genotype of UCHL1 S18Y SNP, those with the AA genotype had a significantly increased risk of sporadic PD: the adjusted OR was 1.57 (95 % CI: 1.06 − 2.31). Compared with subjects with the CC or CA genotype of UCHL1 S18Y and the CC or CT genotype of SNCA SNP rs356220, those with the AA genotype of UCHL1 S18Y and the TT genotype of SNP rs356220 had a significantly increased risk of sporadic PD; the interaction, however, was not significant. Our previous investigation found significant inverse relationships between smoking and caffeine intake and PD in this population. There were no significant interactions between UCHL1 S18Y and smoking or caffeine intake affecting sporadic PD.

Conclusions

This study reveals that the UCHL1 S18Y variant is a risk factor for sporadic PD. We could not find evidence for interactions affecting sporadic PD between UCHL1 S18Y and SNCA SNP rs356220, smoking, or caffeine intake.