title: UCHL1  S18Y variant is a risk factor for Parkinson's disease in Japan.
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.
authors: Department of Preventive Medicine and Public Health, Faculty of Medicine, Fukuoka University, Fukuoka, Japan. miyake-y@fukuoka-u.ac.jp
authors: Yoshihiro
authors: Y
authors: Miyake
authors: Keiko
authors: K
authors: Tanaka
authors: Wakaba
authors: W
authors: Fukushima
authors: Chikako
authors: C
authors: Kiyohara
authors: Satoshi
authors: S
authors: Sasaki
authors: Yoshio
authors: Y
authors: Tsuboi
authors: Tatsuo
authors: T
authors: Yamada
authors: Tomoko
authors: T
authors: Oeda
authors: Hiroyuki
authors: H
authors: Shimada
authors: Nobutoshi
authors: N
authors: Kawamura
authors: Nobutaka
authors: N
authors: Sakae
authors: Hidenao
authors: H
authors: Fukuyama
authors: Yoshio
authors: Y
authors: Hirota
authors: Masaki
authors: M
authors: Nagai
mesh_terms: D000368:Aged; D005260:Female; D020022:Genetic Predisposition to Disease / Q000453:epidemiology* / Q000235:genetics*; D014644:Genetic Variation / Q000235:genetics; D006801:Humans; D007564:Japan / Q000453:epidemiology; D008297:Male; D010300:Parkinson Disease / Q000453:epidemiology* / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D015995:Prevalence; D012307:Risk Factors; D043222:Ubiquitin Thiolesterase / Q000235:genetics*
chemical_list: C482860:UCHL1 protein, human; D043222:Ubiquitin Thiolesterase