title: The UCHL1 S18Y polymorphism and Parkinson's disease in a Japanese population.
abstract: 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.
authors.affiliation: Department of Epidemiology, University of Washington School of Public Health, Seattle, Washington, USA.
authors.forename: Katherine W
authors.initials: KW
authors.lastname: Snapinn
authors.forename: Eric B
authors.initials: EB
authors.lastname: Larson
authors.forename: Hideshi
authors.initials: H
authors.lastname: Kawakami
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Ujike
authors.forename: Amy R
authors.initials: AR
authors.lastname: Borenstein
authors.forename: Yuishin
authors.initials: Y
authors.lastname: Izumi
authors.forename: Ryuji
authors.initials: R
authors.lastname: Kaji
authors.forename: Hirofumi
authors.initials: H
authors.lastname: Maruyama
authors.forename: Ignacio F
authors.initials: IF
authors.lastname: Mata
authors.forename: Hiroyuki
authors.initials: H
authors.lastname: Morino
authors.forename: Masaya
authors.initials: M
authors.lastname: Oda
authors.forename: Debby W
authors.initials: DW
authors.lastname: Tsuang
authors.forename: Dora
authors.initials: D
authors.lastname: Yearout
authors.forename: Karen L
authors.initials: KL
authors.lastname: Edwards
authors.forename: Cyrus P
authors.initials: CP
authors.lastname: Zabetian
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics*; D016022:Case-Control Studies; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005828:Genetics, Population; D055106:Genome-Wide Association Study; D005838:Genotype; D006801:Humans; D007564:Japan; D008297:Male; D008875:Middle Aged; D010300:Parkinson Disease / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D020133:Reverse Transcriptase Polymerase Chain Reaction; D043222:Ubiquitin Thiolesterase / Q000235:genetics*
chemical_list: C482860:UCHL1 protein, human; D043222:Ubiquitin Thiolesterase