UCHL-1 is not a Parkinson's disease susceptibility gene.


Journal Article

OBJECTIVE:The UCHL-1 gene is widely cited as a susceptibility factor for sporadic Parkinson's disease (PD). The strongest evidence comes from a meta-analysis of small studies that reported the S18Y polymorphism as protective against PD, after pooling studies of white and Asian subjects. Here, we present data that challenge this association. METHODS:In a new large case-control study in white individuals (3,023 subjects), the S18Y variant was not protective against PD under any genetic model of inheritance. Similarly, a more powerful haplotype-tagging approach did not detect other associated variants. RESULTS:Finally, in an updated S18Y-PD meta-analysis (6,594 subjects), no significant association was observed under additive, recessive, or dominant models (odds ratio = 1.00 [95% confidence interval: 0.74-1.33]; odds ratio = 1.01 [95% confidence interval: 0.76-1.35]; and odds ratio = 0.96 [95% confidence interval: 0.86-1.08], respectively), and a cumulative meta-analysis showed a trend toward a null effect. INTERPRETATION:Based on the current evidence, the UCHL-1 gene does not exhibit a protective effect in PD.

Full Text

Cited Authors

  • Healy, DG; Abou-Sleiman, PM; Casas, JP; Ahmadi, KR; Lynch, T; Gandhi, S; Muqit, MMK; Foltynie, T; Barker, R; Bhatia, KP; Quinn, NP; Lees, AJ; Gibson, JM; Holton, JL; Revesz, T; Goldstein, DB; Wood, NW

Published Date

  • April 2006

Published In

Volume / Issue

  • 59 / 4

Start / End Page

  • 627 - 633

PubMed ID

  • 16450370

Pubmed Central ID

  • 16450370

Electronic International Standard Serial Number (EISSN)

  • 1531-8249

International Standard Serial Number (ISSN)

  • 0364-5134

Digital Object Identifier (DOI)

  • 10.1002/ana.20757


  • eng