Complement C7 is a novel risk gene for Alzheimer's disease in Han Chinese
文献类型：期刊论文
| 作者 | Zhang, DF; Fan, Y; Xu, M; Wang, GH; Wang, D; Li, J; Kong, LL; Zhou, HJ; Luo, RC; Bi, R |
| 刊名 | NATIONAL SCIENCE REVIEW
 |
| 出版日期 | 2019 |
| 卷号 | 6期号:2页码:257-274 |
| ISSN号 | 2095-5138 |
| 英文摘要 | Alzheimer's disease is the most common neurodegenerative disease, and has a high level of genetic heritability and population heterogeneity. In this study, we performed the whole-exome sequencing of Han Chinese patients with familial and/or early-onset Alzheimer's disease, followed by independent validation, imaging analysis and function characterization. We identified an exome-wide significant rare missense variant rs3792646 (p.K420Q) in the C7 gene in the discovery stage (P = 1.09 x 10(-6), odds ratio = 7.853) and confirmed the association in different cohorts and a combined sample (1615 cases and 2832 controls, P-combined = 2.99 x 10(-7), odds ratio = 1.930). The risk allele was associated with decreased hippocampal volume and poorer working memory performance in early adulthood, thus resulting in an earlier age of disease onset. Overexpression of the mutant p.K420Q disturbed cell viability, immune activation and beta-amyloid processing. Electrophysiological analyses showed that the mutant p.K420Q impairs the inhibitory effect of wild type C7 on the excitatory synaptic transmission in pyramidal neurons. These findings suggested that C7 is a novel risk gene for Alzheimer's disease in Han Chinese. |
| 语种 | 英语 |
| 源URL | [http://ir.kiz.ac.cn:8080/handle/152453/12456]  |
| 专题 | 昆明动物研究所_神经系统疾病 |
| 推荐引用方式 GB/T 7714 | Zhang, DF,Fan, Y,Xu, M,et al. Complement C7 is a novel risk gene for Alzheimer's disease in Han Chinese[J]. NATIONAL SCIENCE REVIEW,2019,6(2):257-274. |
| APA | Zhang, DF.,Fan, Y.,Xu, M.,Wang, GH.,Wang, D.,...&Yao, YG.(2019).Complement C7 is a novel risk gene for Alzheimer's disease in Han Chinese.NATIONAL SCIENCE REVIEW,6(2),257-274. |
| MLA | Zhang, DF,et al."Complement C7 is a novel risk gene for Alzheimer's disease in Han Chinese".NATIONAL SCIENCE REVIEW 6.2(2019):257-274. |
入库方式： OAI收割
来源：昆明动物研究所
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