| Summary: | <p>Abstract</p> <p>Background</p> <p>A recent meta-analysis on the <it>UCHL1 </it> 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 <it>UCHL1 </it> S18Y single nucleotide polymorphism (SNP) and sporadic PD in Japan.</p> <p>Methods</p> <p>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.</p> <p>Results</p> <p>Compared with subjects with the CC or CA genotype of <it>UCHL1 </it> 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 <it>UCHL1 </it> S18Y and the CC or CT genotype of <it>SNCA</it> SNP rs356220, those with the AA genotype of <it>UCHL1 </it> 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 <it>UCHL1 </it> S18Y and smoking or caffeine intake affecting sporadic PD.</p> <p>Conclusions</p> <p>This study reveals that the <it>UCHL1 </it> S18Y variant is a risk factor for sporadic PD. We could not find evidence for interactions affecting sporadic PD between <it>UCHL1 </it> S18Y and <it>SNCA</it> SNP rs356220, smoking, or caffeine intake.</p>
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