期刊
NEUROBIOLOGY OF AGING
卷 64, 期 -, 页码 -出版社
ELSEVIER SCIENCE INC
DOI: 10.1016/j.neurobiolaging.2017.12.005
关键词
Amyotrophic lateral sclerosis; Sporadic; Japan; TBK1; Variant
资金
- Practical Research Project for Rare/Intractable Diseases from the Japan Agency for Medical Research and Development (AMED) [16ek0109071h0003]
- Health and Labor Sciences Research
- Japan Society for the Promotion of Science (JSPS) [15k19482, 16H06277]
- Grants-in-Aid for Scientific Research [26117006, 17J03762, 17K09778] Funding Source: KAKEN
Amyotrophic lateral sclerosis (ALS) is a devastating neurological disease, and the etiology of sporadic ALS is generally unknown. The TANK-binding kinase 1 (TBK1) gene was identified as an ALS gene contributing to a predisposition toward ALS. To reveal the frequency and characteristics of variants of the TBK1 gene in sporadic ALS patients in Japan, we analyzed the TBK1 gene by exome sequencing in a large Japanese cohort of 713 sporadic ALS patients and 800 controls. We identified known or potentially toxic rare variants of TBK1 gene in 9 patients (1.26%) with sporadic ALS, including 4 novel missense variants (p.V23I, p.H322R, p.R358C, and p.T478I) and 3 loss-of-function variants (p.R357X, p.P378_I379del, and p.T419_G420del). The odds ratio between sporadic ALS patients and controls was 10.2 (p = 0.008, 95% confidence interval = 1.67-62.47). These findings support the contribution of TBK1 to the etiology of sporadic ALS in Japanese patients. (C) 2017 Elsevier Inc. All rights reserved.
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