Research article

BMC Neurology

, 12:62

Open Access This content is freely available online to anyone, anywhere at any time.

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

  • Yoshihiro MiyakeAffiliated withDepartment of Preventive Medicine and Public Health, Faculty of Medicine, Fukuoka University Email author 
  • , Keiko TanakaAffiliated withDepartment of Preventive Medicine and Public Health, Faculty of Medicine, Fukuoka University
  • , Wakaba FukushimaAffiliated withDepartment of Public Health, Osaka City University Graduate School of Medicine
  • , Chikako KiyoharaAffiliated withDepartment of Preventive Medicine, Graduate School of Medical Sciences, Kyushu University
  • , Satoshi SasakiAffiliated withDepartment of Social and Preventive Epidemiology, School of Public Health, The University of Tokyo
  • , Yoshio TsuboiAffiliated withDepartment of Neurology, Faculty of Medicine, Fukuoka University
  • , Tatsuo YamadaAffiliated withDepartment of Neurology, Faculty of Medicine, Fukuoka University
  • , Tomoko OedaAffiliated withDepartment of Neurology, Clinical Research Institute, Utano National Hospital
  • , Hiroyuki ShimadaAffiliated withDepartment of Geriatrics and Neurology, Osaka City University Graduate School of Medicine
    • , Nobutoshi KawamuraAffiliated withDepartment of Neurology, Neurological Institute, Graduate School of Medical Sciences, Kyushu University
    • , Nobutaka SakaeAffiliated withDepartment of Neurology, Neurological Institute, Graduate School of Medical Sciences, Kyushu University
    • , Hidenao FukuyamaAffiliated withHuman Brain Research Center, Kyoto University Graduate School of Medicine
    • , Yoshio HirotaAffiliated withDepartment of Public Health, Osaka City University Graduate School of Medicine
    • , Masaki NagaiAffiliated withDepartment of Public Health, Saitama Medical University Faculty of Medicine
    • , the Fukuoka Kinki Parkinson’s Disease Study GroupAffiliated withOther members of the Study Group are listed in the Appendix

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.