Association between a polymorphism of ubiquitin carboxy-terminal hydrolase L1 (UCH-L1) gene and sporadic Parkinson's disease

We found a novel polymorphism (S/Y18) of ubiquitin carboxy-terminal hydrolase L1 (UCH-L1) gene a mutation of which is expected to contribute to the etiology of a form of familial Parkinson's disease (PD). We report the frequency of this polymorphism in 313 patients with sporadic PD and 302 cont...

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Veröffentlicht in:Parkinsonism & related disorders 2000-10, Vol.6 (4), p.195-197
Hauptverfasser: Zhang, J, Hattori, N, Leroy, E, Morris, H.R, Kubo, S.-I, Kobayashi, T, Wood, N.W, Polymeropoulos, M.H, Mizuno, Y
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container_end_page 197
container_issue 4
container_start_page 195
container_title Parkinsonism & related disorders
container_volume 6
creator Zhang, J
Hattori, N
Leroy, E
Morris, H.R
Kubo, S.-I
Kobayashi, T
Wood, N.W
Polymeropoulos, M.H
Mizuno, Y
description We found a novel polymorphism (S/Y18) of ubiquitin carboxy-terminal hydrolase L1 (UCH-L1) gene a mutation of which is expected to contribute to the etiology of a form of familial Parkinson's disease (PD). We report the frequency of this polymorphism in 313 patients with sporadic PD and 302 control subjects (Japanese and Caucasians). The frequency of the mutant allele (Y) was significantly higher in Japanese control subjects (51.2%) than in Japanese PD patients (43.4%) ( χ 2=3.917, p=0.048
doi_str_mv 10.1016/S1353-8020(00)00015-8
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We report the frequency of this polymorphism in 313 patients with sporadic PD and 302 control subjects (Japanese and Caucasians). The frequency of the mutant allele (Y) was significantly higher in Japanese control subjects (51.2%) than in Japanese PD patients (43.4%) ( χ 2=3.917, p=0.048&lt;0.05). It appears that this polymorphism has a weak protective factor against PD in at least the Japanese population. The frequencies of Y allele and S/Y and Y/Y genotypes in the PD patients and the controls were more significantly higher in Japanese than in Caucasian population ( p&lt;0.0001). It seems that the role of this polymorphism in PD may be different between Caucasian and Japanese populations.</abstract><cop>England</cop><pub>Elsevier Ltd</pub><pmid>10900392</pmid><doi>10.1016/S1353-8020(00)00015-8</doi><tpages>3</tpages></addata></record>
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subjects Association study
Lewy bodies
Parkinson's disease
Polymorphism
Ubiquitin carboxy-terminal hydrolase L1 gene
title Association between a polymorphism of ubiquitin carboxy-terminal hydrolase L1 (UCH-L1) gene and sporadic Parkinson's disease
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