S18Y in ubiquitin carboxy-terminal hydrolase L1 (UCH-L1) associated with decreased risk of Parkinson's disease in Sweden

被引：49

作者：

Belin, Andrea Carmine

Westerlund, Marie

Bergman, Olle

Nissbrandt, Hans

Lind, Charlotta

Sydow, Olof

Galter, Dagmar

机构：

[1] Karolinska Inst, Dept Neurosci, S-17177 Stockholm, Sweden

[2] Univ Gothenburg, Sahlgrenska Acad, Dept Pharmacol, Gothenburg, Sweden

[3] Karolinska Univ Hosp, Dept Clin Neurosci, Neurol Sect, Stockholm, Sweden

来源：

PARKINSONISM & RELATED DISORDERS | 2007年 / 13卷 / 05期

关键词：

Parkinson's disease; UCH-L1; protective; association;

D O I：

10.1016/j.parkreldis.2006.12.002

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Ubiquitin carboxy-terminal hydrolase L1 (UCH-LI) is a neuron-specific enzyme that removes ubiquitin from the C-terminal end of substrates and a component of the ubiquitin-proteasome system. A protective effect of a UCH-L1 variant, S18Y, was suggested since the common variant was found to be inversely associated with sporadic Parkinson's disease (PD). We investigated the association of S18Y in our Swedish PD material. The tyrosine variant was significantly inversely associated with PD (P = 0.049) and with a low age of onset (<= 50 years) (P = 0.017) in the case-control material, supporting the hypothesis of a protective function. (c) 2007 Elsevier Ltd. All rights reserved.

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页码：295 / 298

页数：4

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