Ataxin-2 intermediate-length polyglutamine: a possible risk factor for Chinese patients with amyotrophic lateral sclerosis
Ataxin-2 intermediate-length polyglutamine: a possible risk factor for Chinese patients with amyotrophic lateral sclerosis
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DOI：
10.1016/j.neurobiolaging.2011.05.015
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发表时间：
2011-10-01
影响因子：
4.2
通讯作者：
Shang, Hui-Fang
中科院分区：
文献类型：
--
作者：
Chen, YongPing;Huang, Rui;Shang, Hui-Fang
最近，在ataxin-2（ATXN 2）基因中的中等长度多聚谷氨酰胺（polyQ）扩增被确定为散发性肌萎缩侧索硬化症（SALS）的危险因素。本研究旨在分析中国SALS患者ATXN 2基因的胞嘧啶、腺嘌呤、鸟嘌呤（CAG）（n）扩增。对所有确诊为成人型散发性肌萎缩侧索硬化（ALS）的患者进行连续随访，收集其临床特征。为了测量ATXN 2 polyQ的重复长度，在3100-Avant Genetic Analyzer Applied Biosystem（Foster City，CA，USA）上使用ROC-500大小标准分析荧光聚合酶链反应产物。研究了345例SALS患者。平均发病年龄为51.38 ± 12.45岁。在我们的研究中，发现重复长度大于27的ATXN 2 polyQ与肌萎缩侧索硬化症弱相关。ATXN 2 polyQ扩增大于27的SALS患者组和未扩增的SALS患者组之间的平均发病年龄、性别和发病部位无显著差异。我们的研究结果提供了证据表明，ATXN 2 polyQ扩增大于27可能是中国SALS患者的风险因素。(C)2011 Elsevier Inc. All rights reserved.
Intermediate-length polyglutamine (polyQ) expansions in the ataxin-2 (ATXN2) gene have recently been identified as a risk factor for sporadic amyotrophic lateral sclerosis (SALS). Our study aims to analyze cytosine, adenine, guanine (CAG)(n) expansions in the ATXN2 gene among Chinese patients with SALS. All patients diagnosed with adult-onset sporadic amyotrophic lateral sclerosis (ALS) were consecutively followed up, and their clinical characteristics were collected. To measure the repeat length of ATXN2 polyQ, fluorescence-polymerase chain reaction products were analyzed on a 3100-Avant Genetic Analyzer Applied Biosystem (Foster City, CA, USA) using the ROC-500 size standard. Three hundred forty-five patients with SALS were studied. The mean age of onset was 51.38 +/- 12.45 years. ATXN2 polyQ with a repeat length greater than 27 was found to be weakly associated with amyotrophic lateral sclerosis in our study. There was no significant difference in mean age of onset, gender, and onset site between the group of SALS patients with and without ATXN2 polyQ expansion greater than 27. Our finding provides evidence that the ATXN2 polyQ expansion greater than 27 might be a risk factor for Chinese SALS patients. (C) 2011 Elsevier Inc. All rights reserved.