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 Howard Bower, J. Eric Ahlskog, Julie M Cunningham, Sarah Lincoln, Mathew J. Farrer, Walter A Rocca, Demetrius M. Maraganore

Research output: Contribution to journalArticle

21 Citations (Scopus)

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

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Hydrolases
Ubiquitin
Parkinson Disease
Case-Control Studies
Population
Genes

Keywords

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

ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

UCHL1 is associated with Parkinson's disease : A case-unaffected sibling and case-unrelated control study. / Facheris, Maurizio; Strain, Kari J.; Lesnick, Timothy G.; De Andrade, Mariza; Bower, James Howard; Ahlskog, J. Eric; Cunningham, Julie M; Lincoln, Sarah; Farrer, Mathew J.; Rocca, Walter A; Maraganore, Demetrius M.

In: Neuroscience Letters, Vol. 381, No. 1-2, 10.06.2005, p. 131-134.

Research output: Contribution to journalArticle

Facheris, Maurizio ; Strain, Kari J. ; Lesnick, Timothy G. ; De Andrade, Mariza ; Bower, James Howard ; Ahlskog, J. Eric ; Cunningham, Julie M ; Lincoln, Sarah ; Farrer, Mathew J. ; Rocca, Walter A ; Maraganore, Demetrius M. / UCHL1 is associated with Parkinson's disease : A case-unaffected sibling and case-unrelated control study. In: Neuroscience Letters. 2005 ; Vol. 381, No. 1-2. pp. 131-134.
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