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Published in: BMC Neurology 1/2012

Open Access 01-12-2012 | Research article

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

Authors: Yoshihiro Miyake, Keiko Tanaka, Wakaba Fukushima, Chikako Kiyohara, Satoshi Sasaki, Yoshio Tsuboi, Tatsuo Yamada, Tomoko Oeda, Hiroyuki Shimada, Nobutoshi Kawamura, Nobutaka Sakae, Hidenao Fukuyama, Yoshio Hirota, Masaki Nagai, the Fukuoka Kinki Parkinson’s Disease Study Group

Published in: BMC Neurology | Issue 1/2012

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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.
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Metadata
Title
UCHL1 S18Y variant is a risk factor for Parkinson’s disease in Japan
Authors
Yoshihiro Miyake
Keiko Tanaka
Wakaba Fukushima
Chikako Kiyohara
Satoshi Sasaki
Yoshio Tsuboi
Tatsuo Yamada
Tomoko Oeda
Hiroyuki Shimada
Nobutoshi Kawamura
Nobutaka Sakae
Hidenao Fukuyama
Yoshio Hirota
Masaki Nagai
the Fukuoka Kinki Parkinson’s Disease Study Group
Publication date
01-12-2012
Publisher
BioMed Central
Published in
BMC Neurology / Issue 1/2012
Electronic ISSN: 1471-2377
DOI
https://doi.org/10.1186/1471-2377-12-62

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