Multi-Ethnic Comparison of the Characteristics of Amyotrophic Lateral Sclerosis-Related TBK1 Gene Variants
Multi-Ethnic Comparison of the Characteristics of Amyotrophic Lateral Sclerosis-Related TBK1 Gene Variants
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DOI：
10.29245/2572.942x/2019/1.1236
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发表时间：
2019-01
期刊：
影响因子：
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通讯作者：
G. Tohnai;R. Nakamura;M. Nakatochi;N. Atsuta;M. Katsuno;G. Sobue;Nagoya
中科院分区：
文献类型：
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作者：
G. Tohnai;R. Nakamura;M. Nakatochi;N. Atsuta;M. Katsuno;G. Sobue;Nagoya
肌萎缩性侧索硬化症（ALS）是一种致命的神经系统疾病，零星ALS的病因尚不清楚。储罐结合激酶1（TBK1）基因被鉴定为ALS基因，有助于ALS的易感性。在这篇综述中，我们分析了属于各个地区和族裔人群的ALS队列研究中发现的TBK1的变体。与没有ALS的患者相比，ALS患者的TBK1变体往往富含。在家族性高加索人中，TBK1变体的频率比亚洲人口的频率更高。但是，与零星ALS相关的功能丧失（LOF）变体在包括日本人口在内的亚洲群体中几乎相似。 LOF变体经常据报道与TBK1生物学有关。这些发现表明TBK1-LOF变体对于ALS都是致病性的，无论种族或地区如何。
Amyotrophic lateral sclerosis (ALS) is a fatal neurological disease, and the etiology of sporadic ALS is unknown. The TANK-binding kinase 1 (TBK1) gene identified as an ALS gene, contributes towards a predisposition for ALS. In this review, we analyzed variants of TBK1 found in ALS cohort studies belonging to various regions and ethnic populations. TBK1 variants tend to be enriched in patients with ALS compared to patients without ALS. The frequency of TBK1 variants is more in the familial Caucasian than that in the Asian population. However, loss of function (LoF) variant associated with sporadic ALS is almost similar among the Asian group, including Japanese population. LoF variants were frequently reported to be associated with the TBK1 biology. These findings indicate that TBK1- LoF variants are pathogenic for ALS, regardless of race or region.