Association of ATXN2 intermediate-length CAG repeats with amyotrophic lateral sclerosis correlates with the distributions of normal CAG repeat alleles among individual ethnic populations
Association of ATXN2 intermediate-length CAG repeats with amyotrophic lateral sclerosis correlates with the distributions of normal CAG repeat alleles among individual ethnic populations
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DOI：
10.1007/s10048-019-00570-9
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发表时间：
2019-03
期刊：
影响因子：
2.2
通讯作者：
H. Naruse;T. Matsukawa;H. Ishiura;J. Mitsui;Yuji Takahashi;H. Takano;J. Goto;T. Toda;S. Tsuji
中科院分区：
文献类型：
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作者：
H. Naruse;T. Matsukawa;H. Ishiura;J. Mitsui;Yuji Takahashi;H. Takano;J. Goto;T. Toda;S. Tsuji
ATXN2中的中等长度CAG重复序列已被广泛证明是散发性肌萎缩侧索硬化症（SALS）的危险因素。为了评估ATXN2中长CAG重复等位基因与SALS风险增加的相关性，我们调查了日本人群中394名SALS患者和490名对照个体的CAG重复等位基因分布。在29个或更多的中间长度重复单位中，我们确定了一个SALS患者有31个重复单位，两个对照个体有30个重复单位。因此，在SALS患者和对照个体之间检测到中等长度CAG重复等位基因的携带频率没有显著差异。当我们调查的分布“大正常等位基因”定义为ATXN2CAG重复范围从24到33在日本人口与其他人群相比，在以前的研究中，大正常等位基因的频率是显着高于在欧洲和北美系列比在日本系列。此外，这些频率在土耳其，中国，韩国和巴西（拉丁美洲）系列也高于日本系列。这些结果提出了一种可能性，即个体人群中大的正常等位基因的频率是相应人群中ALS风险等位基因频率的基础。
Intermediate-length CAG repeats inATXN2have been widely shown to be a risk factor for sporadic amyotrophic lateral sclerosis (SALS). To evaluate the association ofATXN2intermediate-length CAG repeat alleles with an increased risk of SALS, we investigated distributions of CAG repeat alleles in 394 patients with SALS and 490 control individuals in the Japanese population. In the intermediate-length repeat units of 29 or more, we identified one SALS patient with 31 repeat units and two control individuals with 30 repeat units. Thus, no significant differences in the carrier frequency of intermediate-length CAG repeat alleles were detected between patients with SALS and control individuals. When we investigated the distribution of “large normal alleles” defined asATXN2CAG repeats ranging from 24 up to 33 in the Japanese population compared with those in other populations in previous studies, the frequency of large normal alleles was significantly higher in the European and North American series than in the Japanese series. Moreover, these frequencies in the Turkish, Chinese, Korean, and Brazilian (Latin American) series were also higher than that in the Japanese series. These results raise the possibility that the frequencies of large normal alleles in individual populations underlie the frequencies of ALS risk alleles in the corresponding populations.