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

被引：180

作者：

Maraganore, DM

Farrer, MJ

Hardy, JA

Lincoln, SJ

McDonnell, SK

Rocca, WA

机构：

[1] Mayo Clin & Mayo Fdn, Dept Neurol, Rochester, MN 55905 USA

[2] Mayo Clin & Mayo Fdn, Dept Hlth Sci Res, Rochester, MN 55905 USA

[3] Mayo Clin & Mayo Fdn, Genet Mol Lab, Jacksonville, FL USA

来源：

NEUROLOGY | 1999年 / 53卷 / 08期

关键词：

PD; candidate gene; ubiquitin;

D O I：

10.1212/WNL.53.8.1858

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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.

引用

页码：1858 / 1860

页数：3

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