Case-control study of the ubiquitin carboxy-terminal hydrolase L1 gene in Parkinson's disease

D. M. Maraganore; M. J. Farrer; J. A. Hardy; S. J. Lincoln; S. K. McDonnell; W. A. Rocca

doi:10.1212/wnl.53.8.1858

Case-control study of the ubiquitin carboxy-terminal hydrolase L1 gene in Parkinson's disease

D. M. Maraganore, M. J. Farrer, J. A. Hardy, S. J. Lincoln, S. K. McDonnell, W. A. Rocca

Quantitative Health Sciences

Research output: Contribution to journal › Article › peer-review

181 Scopus citations

Abstract

We investigated the association of PD with a recently reported I93M mutation of the ubiquitin carboxy-terminal hydrolase L1 (UCH-L1) gene, and with a new and common polymorphic variant: S18Y of the same gene. We did not identify the I93M mutation in any of 139 unrelated PD cases or 113 controls. However, S18Y polymorphism carriers had significantly lower risk of PD (odds ratio = 0.53; p = 0.03), and the risk reduction was greater for younger onset cases.

Original language	English (US)
Pages (from-to)	1858-1860
Number of pages	3
Journal	Neurology
Volume	53
Issue number	8
DOIs	https://doi.org/10.1212/wnl.53.8.1858
State	Published - Nov 10 1999

Keywords

Candidate gene
PD
Ubiquitin

ASJC Scopus subject areas

Clinical Neurology

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abstract = "We investigated the association of PD with a recently reported I93M mutation of the ubiquitin carboxy-terminal hydrolase L1 (UCH-L1) gene, and with a new and common polymorphic variant: S18Y of the same gene. We did not identify the I93M mutation in any of 139 unrelated PD cases or 113 controls. However, S18Y polymorphism carriers had significantly lower risk of PD (odds ratio = 0.53; p = 0.03), and the risk reduction was greater for younger onset cases.",

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AU - Maraganore, D. M.

AU - Farrer, M. J.

AU - Hardy, J. A.

AU - Lincoln, S. J.

AU - McDonnell, S. K.

AU - Rocca, W. A.

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AB - We investigated the association of PD with a recently reported I93M mutation of the ubiquitin carboxy-terminal hydrolase L1 (UCH-L1) gene, and with a new and common polymorphic variant: S18Y of the same gene. We did not identify the I93M mutation in any of 139 unrelated PD cases or 113 controls. However, S18Y polymorphism carriers had significantly lower risk of PD (odds ratio = 0.53; p = 0.03), and the risk reduction was greater for younger onset cases.

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KW - PD

KW - Ubiquitin

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Case-control study of the ubiquitin carboxy-terminal hydrolase L1 gene in Parkinson's disease

Abstract

Keywords

ASJC Scopus subject areas

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