EIF4G1 Ala502Val and Arg1205His variants in Chinese patients with Parkinson disease
EIF4G1 Ala502Val and Arg1205His variants in Chinese patients with Parkinson disease
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中国帕金森病患者中的 EIF4G1 Ala502Val 和 Arg1205Hi 变异
DOI：
10.1016/j.neulet.2013.02.056
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发表时间：
2013-05-24
影响因子：
2.5
通讯作者：
Deng, Hao
中科院分区：
文献类型：
--
作者：
Yuan, Lamei;Song, Zhi;Deng, Hao
越来越多的证据表明，遗传异常在帕金森病（PD）的发病机制中起重要作用。至少有18个遗传位点和13个疾病相关基因的帕金森症已被确定。近年来，研究发现真核生物翻译起始因子4-γ 1基因（EIF 4G 1）中的p.Ala502Val和p.Arg1205His变异体与PD相关。为探讨EIF 4G 1 p.Ala502Val和p.Arg1205His变异与中国汉族人群PD的相关性，我们对425例中国大陆的PD患者进行了这两种变异的基因检测，在我们的患者中没有发现这两种变异。我们在一名73岁男性患者中发现了一个已知的非致病性多态性c.3660C>T（p.Ala1220Ala，rs 143852330）。我们的研究结果与其他最近的报道一致，表明EIF 4G 1 p.Ala502Val和p.Arg1205His变异是一种罕见的PD病因，至少在中国人群中是如此。(C)2013爱思唯尔爱尔兰有限公司版权所有。
Growing evidences show that genetic abnormalities play an important role in the etiopathogenesis of Parkinson disease (PD). At least 18 genetic loci and 13 disease-related genes for parkinsonism have been identified. Recently, the p.Ala502Val and p.Arg1205His variants in the eukaryotic translation initiation factor 4-gamma 1 gene (EIF4G1) were found to be associated with PD. To evaluate whether the EIF4G1 p.Ala502Val and p.Arg1205His variants are related to PD in Chinese Han population, we conducted genetic examination of these two variants in 425 PD patients from Mainland China and none was found in our patients. We did identify a known non-pathogenic polymorphism c.3660C>T (p.Ala1220Ala, rs143852330) in a 73-year-old male patient. Our results, consistent with other recent reports, suggest that the EIF4G1 p.Ala502Val and p.Arg1205His variants are a rare cause of PD, at least in Chinese population. (C) 2013 Elsevier Ireland Ltd. All rights reserved.