Rakovic Aleksandar, Stiller Barbara, Djarmati Ana, Flaquer Antonia, Freudenberg Jan, Toliat Mohammad-Reza, Linnebank Michael, Kostic Vladimir, Lohmann Katja, Paus Sebastian, Nürnberg Peter, Kubisch Christian, Klein Christine, Wüllner Ullrich, Ramirez Alfredo
Department of Neurology, University of Lübeck, Lübeck, Germany.
Mov Disord. 2009 Feb 15;24(3):429-33. doi: 10.1002/mds.22399.
A role of 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.
已有研究提出ATP13A2在早发性帕金森病（EOP）中发挥作用。相反，这种ATP酶对晚发性帕金森病（PD）的作用仍未得到探索。因此，我们在这个帕金森病发病年龄组中开展了一项病例对照关联研究。初始样本来自德国，包括220例晚发性帕金森病患者（平均发病年龄60.1岁）和232名年龄匹配的无关对照。对涵盖ATP13A2及其常见单倍型的5个单核苷酸多态性（SNP）进行了基因分型。该样本中的总体关联结果为阴性。有趣的是，按性别分层后发现，男性中SNP rs11203280呈阳性结果（P（未校正）=0.016）。在一个由161例晚发性帕金森病患者（平均发病年龄51.7岁）和150名年龄及种族匹配的对照组成的德国和塞尔维亚来源的重复样本中，该结果未能重现。总之，我们没有发现ATP13A2与晚发性帕金森病之间存在关联的一致证据。
