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

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, Yasuhiko Baba, Tomonori Kobayashi, Hideyuki Sawada, Eiji Mizuta, Nagako Murase, Tsuyoshi TsutadaTakami Miki, Jun-Ichi Kira, Tameko Kihira, Tomoyoshi Kondo, Hidekazu Tomimoto, Takayuki Taniwaki, Hiroshi Sugiyama, Sonoyo Yoshida, Harutoshi Fujimura, Tomoko Saito, Kyoko Saida, Junko Fujitake, Naoki Fujii, Masatoshi Naito, Jun Arimizu, Takashi Nakagawa, Hirofumi Harada, Takayuki Sueta, Toshihiro Kikuta, George Umemoto, Eiichi Uchio, Hironori Migita, Kenichi Kazuki, Yoichi Ito, Hiroyoshi Iwaki, Kunihiko Siraki, Shinsuke Ataka, Hideo Yamane, Rie Tochino, Teruichi Harada, Yasushi Iwashita, Motoyuki Shimizu, Kenji Seki, Keiji Ando

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16 Citations (Scopus)

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.

Original languageEnglish
Article number62
JournalBMC neurology
Volume12
DOIs
Publication statusPublished - Jul 28 2012

All Science Journal Classification (ASJC) codes

  • Clinical Neurology

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