The UCHL1 S18Y polymorphism and Parkinson’s disease in a Japanese population
Copyright policy )The UCHL1 S18Y polymorphism and Parkinson’s disease in a Japanese population
UCHL1 plays an important role in the ubiquitin-proteasome system and is a biologically plausible candidate gene for Parkinson's disease (PD). However, results from genetic association studies of the UCHL1 S18Y polymorphism have been equivocal. Meta-analyses indicate that the polymorphism's risk effect might be restricted to Asian populations and early-onset disease. To further explore the role of UCHL1 in PD, we genotyped S18Y in 605 PD patients and 1620 controls of Japanese ancestry. We did not find evidence of an association in the overall sample (SY vs. SS: adjusted OR=1.11, P=0.37; YY vs. SS: adjusted OR=1.01, P=0.94). In the early-onset stratum, however, we observed a trend toward a reduction in risk for those with the Y allele (SY vs. SS, adjusted OR, 0.75; 95% CI, 0.47-1.20; YY vs. SS, OR, 0.64; 95% CI, 0.36-1.14; trend test, P=0.12). These results indicate that, if involved in PD, the S18Y variant is not a major determinant of risk and its effect might be restricted to early-onset disease.
- State University System of Florida United States
- Okayama University Japan
- Hiroshima University Japan
- University of Mary United States
- VA Puget Sound Health Care System United States
Adult, Male, Genotype, Reverse Transcriptase Polymerase Chain Reaction, Parkinson Disease, Middle Aged, Polymorphism, Single Nucleotide, Genetics, Population, Asian People, Japan, Case-Control Studies, Humans, Female, Genetic Predisposition to Disease, Ubiquitin Thiolesterase, Genome-Wide Association Study
Adult, Male, Genotype, Reverse Transcriptase Polymerase Chain Reaction, Parkinson Disease, Middle Aged, Polymorphism, Single Nucleotide, Genetics, Population, Asian People, Japan, Case-Control Studies, Humans, Female, Genetic Predisposition to Disease, Ubiquitin Thiolesterase, Genome-Wide Association Study
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