Lack of association between ATP13A2 Ala746Thr variant and Parkinson's disease in Han population of mainland China
Lack of association between ATP13A2 Ala746Thr variant and Parkinson's disease in Han population of mainland China
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DOI：
10.1016/j.neulet.2010.03.018
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发表时间：
2010-05-14
影响因子：
2.5
通讯作者：
Chen, Sheng-Di
中科院分区：
文献类型：
--
作者：
Fei, Qing-Zhou;Cao, Li;Chen, Sheng-Di
ATP 13 A2（PARK 9）突变与Kufor-Rakeb综合征（KRS）有关。我们对来自中国大陆的PD患者和健康对照者的独立队列进行了Ala 746 Thr变异的遗传分析。Ala 746 Thr变异体在PD患者中的检出率为0.19%（1/532），在健康对照组中的检出率为0.21%（1/480）（比值比= 0.90，95%CI 0.06，14.39，P = 1.00）。这两名受试者携带杂合子基因型。年龄= 50岁组的子集分析显示PD的患病率为0.7%，而健康对照组为0%，年龄> 50岁组的PD患病率为0%，而健康对照组为0.3%。我们没有观察到一个显着的关联Ala 746 Thr和帕金森病在中国汉族人群中，即使分层发病年龄。提示Ala 746 Thr变异不是汉族人PD的主要易感因素。(C)2010爱思唯尔爱尔兰有限公司版权所有。
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. (C) 2010 Elsevier Ireland Ltd. All rights reserved.