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.
Publication types
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Clinical Trial
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Controlled Clinical Trial
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Research Support, N.I.H., Extramural
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Research Support, U.S. Gov't, P.H.S.
MeSH terms
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Aryl Hydrocarbon Hydroxylases / genetics*
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Case-Control Studies
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DNA Mutational Analysis / methods
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Genetic Predisposition to Disease / epidemiology*
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Genetic Testing / methods*
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Incidence
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Parkinson Disease / enzymology*
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Parkinson Disease / epidemiology*
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Parkinson Disease / genetics
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Polymorphism, Genetic*
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Risk Assessment / methods*
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Risk Factors
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Siblings
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Ubiquitin Thiolesterase / genetics*
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United States / epidemiology
Substances
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UCHL1 protein, human
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Aryl Hydrocarbon Hydroxylases
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CYP2A13 protein, human
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Ubiquitin Thiolesterase