Genetic Association Study of the P-Type ATPase ATP13A2 in Late-Onset Parkinson's Disease

被引：15

作者：

Rakovic, Aleksandar ^{[2
,3
]}

Stiller, Barbara ^{[1
,4
,5
]}

Djarmati, Ana ^{[2
,3
]}

Flaquer, Antonia ^{[6
]}

Freudenberg, Jan ^{[7
]}

Toliat, Mohammad-Reza ^{[4
,8
]}

Linnebank, Michael ^{[9
]}

Kostic, Vladimir ^{[10
]}

Lohmann, Katja ^{[2
,3
]}

Paus, Sebastian ^{[9
]}

Nuernberg, Peter ^{[4
,8
,11
]}

Kubisch, Christian ^{[1
,4
,5
,8
,11
]}

Klein, Christine ^{[2
,3
]}

Wuellner, Ullrich ^{[9
]}

Ramirez, Alfredo ^{[1
,4
,5
]}

机构：

[1] Univ Cologne, Inst Human Genet, D-50931 Cologne, Germany

[2] Med Univ Lubeck, Dept Neurol, D-23538 Lubeck, Germany

[3] Med Univ Lubeck, Dept Human Genet, D-23538 Lubeck, Germany

[4] Univ Cologne, Inst Genet, D-50931 Cologne, Germany

[5] Univ Cologne, Ctr Mol Med Cologne, D-50931 Cologne, Germany

[6] Univ Bonn, Inst Med Biometry Informat & Epidemiol, D-5300 Bonn, Germany

[7] Univ Calif San Francisco, Dept Neurol, Labs Neurogenet, San Francisco, CA 94143 USA

[8] Univ Cologne, Cologne Ctr Genom, D-50931 Cologne, Germany

[9] Univ Bonn, Dept Neurol, D-5300 Bonn, Germany

[10] Univ Belgrade, Dept Neurol, Belgrade, Serbia

[11] Univ Cologne, Cologne Excellence Cluster Cellular Stress Respon, D-50931 Cologne, Germany

来源：

MOVEMENT DISORDERS | 2009年 / 24卷 / 03期

关键词：

ATP13A2; Parkinson's disease; association study; Parkinsonism; PYRAMIDAL DEGENERATION; MUTATIONS; DEMENTIA;

D O I：

10.1002/mds.22399

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

A role or ATP13A2 in early-onset Parkinsonism (EOP) has been proposed. Conversely, the contribution of this ATPase to late-onset Parkinson's disease (PD) remains unexplored. We therefore conducted a case-control association study in this age-of-onset group with PD. The initial sample was of German origin and consisted of 220 patients with late-onset PD (mean age of onset 60.1. years) and 232 age-matched unrelated controls. Five single nucleotide polymorphisms (SNPs) covering ATP13A2 and its common haplotypes were genotyped. The overall association results in this sample were negative. Interestingly, gender stratification gave a positive result for SNP rs11203280 (P-UNC = 0.016) in men. This result could not be reproduced in a replication sample of German and Serbian origin composed of 161 patients with late-onset PD (mean age of onset 51.7 years) and 150 age- and ethnic-matched controls. In conclusion, we found no consistent evidence for an association between ATP13A2 and late-onset PD. (C) 2008 Movement Disorder Society

引用

页码：429 / 433

页数：5

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