UCHL1 is associated with Parkinson's disease: A case-unaffected sibling and case-unrelated control study

Maurizio Facheris, Kari J. Strain, Timothy G. Lesnick, Mariza De Andrade, James H. Bower, J. Eric Ahlskog, Julie M. Cunningham, Sarah Lincoln, Mathew J. Farrer, Walter A. Rocca, Demetrius M. Maraganore

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22 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)131-134
Number of pages4
JournalNeuroscience Letters
Volume381
Issue number1-2
DOIs
StatePublished - Jun 10 2005

Keywords

  • Association study
  • Genetics
  • Parkinson's disease
  • Transmission disequilibrium test
  • UCHL1
  • Ubiquitin proteasomal system

ASJC Scopus subject areas

  • Neuroscience(all)

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