The ubiquitin carboxy-terminal hydrolase-L1 gene S18Y polymorphism does not confer protection against idiopathic Parkinson's disease.

The ubiquitin carboxy-terminal hydrolase L1gene (UCH-L1) has been implicated in the aetiology of Parkinson's disease (PD). A rare Ile93Met mutation in UCH-L1 in a German PD sib-pair has been reported. Recently, a S18Y (C54A) polymorphism in exon 3 of UCH-L1 was found to be under-represented in PD patients compared to controls. To test the reproducibility of this negative association, we conducted an allele-association study of the S18Y polymorphism in an Australian case-control sample consisting of 142 PD cases and 142 closely matched control subjects. Genotypes were determined using polymerase chain reaction and RsaI restriction enzyme assay. Analysis revealed no significant difference between PD patients and controls for genotype or allele frequencies of the S18Y polymorphism. The frequency of the S18Y allele in Australian subjects is similar to that reported elsewhere. This study suggests that the S18Y polymorphism in UCH-L1 does not influence the risk for developing PD.