The Arc Gene Confers Genetic Susceptibility to Alzheimer’s Disease in Han Chinese
文献类型：期刊论文
| 作者 | Bi R1; Kong LL1,2; Li T4; Fang YR5; Zheng C5; Zhang BC2; Yao YG[*]1,6; Xu M1,3; Li GD1,3; Zhang DF1 |
| 刊名 | MOLECULAR NEUROBIOLOGY
 |
| 出版日期 | 2017 |
| 卷号 | **期号:**页码:published online |
| 关键词 | Alzheimer’sdisease Arcgene Genetic susceptibility Han Chinese |
| 通讯作者 | yaoyg@mail.kiz.ac.cn |
| 英文摘要 | Alzheimer's disease (AD) is the most common form of dementia. The deposition of β-amyloid (Aβ) plaques in the brain was considered one of the main neuropathological hallmarks of AD. As the loss of synapses always occurs during AD progression, AD has been gradually regarded as a "synaptopathy." The activity-regulated cytoskeleton-associated protein (Arc) was recently identified as a key factor for AD due to its active roles in synaptic plasticity, learning, memory, and Aβ generation. However, there is little evidence to support the association of the Arc gene with AD. In this study, a two-stage case-control study of 1471 Han Chinese was conducted to investigate the genetic association between the Arc gene and AD. Variant rs10097505 in the 3'UTR region was significantly associated with AD. The whole exons of the Arc gene were also screened in 99 AD patients with a high heritability (familial and/or onset age <55 years old). One missense variant (c.20G>A, p.T7I) was identified in two AD patients but was absent in the controls from the general populations. Both rs10097505 and c.20G>A were predicted to be potentially pathogenic. Further luciferase assay, data mining, and integrative analyses revealed that the AD-risk genotype AA of rs10097505 was associated with an increased Arc mRNA expression and an elevated Aβ level. Our results indicated that the Arc gene would confer susceptibility to AD in Han Chinese, probably through changing the protein structure or affecting the Arc expression in brain tissues, which would finally contribute to the pathogenesis and development of AD. |
| 收录类别 | SCI |
| 资助信息 | This study was supported by the Strategic Priority Research Program (B) of the Chinese Academy of Sciences (XDB02020003) and the Bureau of Frontier Sciences and Education, Chinese Academy of Sciences (QYZDJ-SSW-SMC005). Data collection and sharing for this project was funded by the ADNI (National Institutes of Health grant U01 AG024904) and DOD ADNI (Department of Defense award number W81XWH-12-2-0012). |
| 语种 | 英语 |
| 源URL | [http://159.226.149.26:8080/handle/152453/10823]  |
| 专题 | 昆明动物研究所_重大疾病机理的遗传学 昆明动物研究所_动物模型与人类重大疾病机理重点实验室 |
| 作者单位 | 1.Key Laboratory ofAnimal Models and Human Disease Mechanisms oftheChineseAcademyofSciencesandYunnanProvince,Kunming Institute of Zoology, Kunming, Yunnan 650223, China 2.Institute of Health Sciences, AnhuiUniversity, Hefei,Anhui230601, China 3.Kunming College of Life Science, University of Chinese Academy of Sciences, Kunming, Yunnan 650204, China 4.The Mental Health Center and Psychiatric Laboratory, West China Hospital, Sichuan University, Chengdu, Sichuan 610064, China 5.Division of Mood Disorders, Shanghai Mental Health Center, Shanghai Jiao Tong University School of Medicine, Shanghai 200030, China 6.CAS Center for Excellence in Brain Science and Intelligence Technology,Chinese Academy of Sciences,Shanghai 200031,China |
| 推荐引用方式 GB/T 7714 | Bi R,Kong LL,Li T,et al. The Arc Gene Confers Genetic Susceptibility to Alzheimer’s Disease in Han Chinese[J]. MOLECULAR NEUROBIOLOGY,2017,**(**):published online. |
| APA | Bi R.,Kong LL.,Li T.,Fang YR.,Zheng C.,...&Zhang DF.(2017).The Arc Gene Confers Genetic Susceptibility to Alzheimer’s Disease in Han Chinese.MOLECULAR NEUROBIOLOGY,**(**),published online. |
| MLA | Bi R,et al."The Arc Gene Confers Genetic Susceptibility to Alzheimer’s Disease in Han Chinese".MOLECULAR NEUROBIOLOGY **.**(2017):published online. |
入库方式： OAI收割
来源：昆明动物研究所
浏览0
下载0
收藏0
其他版本
除非特别说明，本系统中所有内容都受版权保护，并保留所有权利。