title: UCHL1 is associated with Parkinson's disease: a case-unaffected sibling and case-unrelated control study.
abstract: To avoid the possible confounding effect of population stratification, we employed a discordant sibling study design and a liberalization of the sibling transmission disequilibrium test to confirm the association of the S18Y variant of the ubiquitin carboxi-terminal hydrolase L1 (UCHL1) gene with Parkinson's disease (PD). The study included 497 case-control pairs (427 case-unaffected sibling pairs and 70 case-unrelated control pairs). Analyses confirmed a significant inverse association of the UCHL1 S18Y polymorphism with PD overall (OR=0.18, 95% CI=0.05-0.64, p=0.002, recessive model) and in several strata.
authors.affiliation: Department of Neurology, Mayo Clinic College of Medicine, 200 First Street SW, Rochester, MN 55905, USA.
authors.forename: Maurizio
authors.initials: M
authors.lastname: Facheris
authors.forename: Kari J
authors.initials: KJ
authors.lastname: Strain
authors.forename: Timothy G
authors.initials: TG
authors.lastname: Lesnick
authors.forename: Mariza
authors.initials: M
authors.lastname: de Andrade
authors.forename: James H
authors.initials: JH
authors.lastname: Bower
authors.forename: J Eric
authors.initials: JE
authors.lastname: Ahlskog
authors.forename: Julie M
authors.initials: JM
authors.lastname: Cunningham
authors.forename: Sarah
authors.initials: S
authors.lastname: Lincoln
authors.forename: Mathew J
authors.initials: MJ
authors.lastname: Farrer
authors.forename: Walter A
authors.initials: WA
authors.lastname: Rocca
authors.forename: Demetrius M
authors.initials: DM
authors.lastname: Maraganore
mesh_terms: D001189:Aryl Hydrocarbon Hydroxylases / Q000235:genetics*; D016022:Case-Control Studies; D004252:DNA Mutational Analysis / Q000379:methods; D020022:Genetic Predisposition to Disease / Q000453:epidemiology*; D005820:Genetic Testing / Q000379:methods*; D015994:Incidence; D010300:Parkinson Disease / Q000201:enzymology* / Q000453:epidemiology* / Q000235:genetics; D011110:Polymorphism, Genetic; D018570:Risk Assessment / Q000379:methods*; D012307:Risk Factors; D035781:Siblings; D043222:Ubiquitin Thiolesterase / Q000235:genetics*; D014481:United States / Q000453:epidemiology
chemical_list: C482860:UCHL1 protein, human; D001189:Aryl Hydrocarbon Hydroxylases; C414206:CYP2A13 protein, human; D043222:Ubiquitin Thiolesterase