Department of Neurology and Institute of Neurology, Rui Jin Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai 200025, China.
Neurosci Lett. 2010 May 14;475(2):61-3. doi: 10.1016/j.neulet.2010.03.018. Epub 2010 Mar 19.
ATP13A2 (PARK9) mutations are related to Kufor-Rakeb syndrome (KRS). We performed genetic analysis of the Ala746Thr variant in an independent cohort of the patients with PD and healthy controls from mainland China. The Ala746Thr variant was present in 1/532 (0.19%) of PD compared with 1/480 (0.21%) of healthy controls (odds ratio=0.90, 95% CI 0.06, 14.39, P=1.00). The two subjects carried the heterozygous genotype. Subset analysis in the group </=50 years of age revealed a prevalence of 0.7% in PD compared with 0% in healthy controls and in the group >50 years of age showed 0% in PD versus 0.3% in healthy controls. We did not observe a significant association between Ala746Thr and Parkinson's disease in Han Chinese population, even after stratification by age at onset. The results suggested that Ala746Thr variant was not a major susceptible factor for PD in Han Chinese people.
ATP13A2（PARK9）突变与 Kufor-Rakeb 综合征（KRS）有关。我们对来自中国大陆的 PD 患者和健康对照组的独立队列进行了 Ala746Thr 变体的遗传分析。与 480 名健康对照者中的 1 名（2.1%）相比，PD 患者中有 1 名（0.19%）携带 Ala746Thr 变体（比值比=0.90，95%CI 0.06，14.39，P=1.00）。这两个个体携带杂合基因型。年龄 </=50 岁的亚组分析显示，PD 的患病率为 0.7%，而健康对照组为 0%；年龄>50 岁的亚组分析显示，PD 的患病率为 0%，而健康对照组为 0.3%。即使按发病年龄分层，我们也未观察到 Ala746Thr 与汉族人群帕金森病之间存在显著关联。结果表明，Ala746Thr 变体不是汉族人群 PD 的主要易感因素。
