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Natl Sci Rev. 2019 Mar;6(2):257-274. doi: 10.1093/nsr/nwy127. Epub 2018 Nov 05.

[No title available]

National science review

Deng-Feng Zhang, Yu Fan, Min Xu, Guihong Wang, Dong Wang, Jin Li, Li-Li Kong, Hejiang Zhou, Rongcan Luo, Rui Bi, Yong Wu, Guo-Dong Li, Ming Li, Xiong-Jian Luo, Hong-Yan Jiang, Liwen Tan, Chunjiu Zhong, Yiru Fang, Chen Zhang, Nengyin Sheng, Tianzi Jiang, Yong-Gang Yao

Affiliations

  1. Key Laboratory of Animal Models and Human Disease Mechanisms of the Chinese Academy of Sciences & Yunnan Province, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming 650223, China.
  2. Center for Excellence in Animal Evolution and Genetics, Chinese Academy of Sciences, Kunming 650223, China.
  3. Kunming College of Life Science, University of Chinese Academy of Sciences, Kunming 650204, China.
  4. Center for Neurodegenerative Diseases, Department of Neurology, Beijing Tiantan Hospital, Capital Medical University, Beijing 100050, China.
  5. Brainnetome Center, Institute of Automation, Chinese Academy of Sciences, Beijing 100190, China.
  6. National Laboratory of Pattern Recognition, Institute of Automation, Chinese Academy of Sciences, Beijing 100190, China.
  7. CAS Center for Excellence in Brain Science and Intelligence Technology, Chinese Academy of Sciences, Shanghai 200031, China.
  8. Department of Psychiatry, the First Affiliated Hospital of Kunming Medical University, Kunming 650032, China.
  9. Mental Health Institute of the Second Xiangya Hospital, Central South University, Changsha 410011, China.
  10. Department of Neurology, Zhongshan Hospital, Fudan University, Shanghai 200032, China.
  11. Division of Mood Disorders, Shanghai Mental Health Center, Shanghai Jiao Tong University School of Medicine, Shanghai 200030, China.
  12. State Key Laboratory of Genetic Resources and Evolution, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming 650223, China.
  13. KIZ-CUHK Joint Laboratory of Bioresources and Molecular Research in Common Diseases, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming 650223, China.

PMID: 31032141 PMCID: PMC6477931 DOI: 10.1093/nsr/nwy127

Abstract

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

Keywords: Alzheimer's disease; C7; complement system; neuroimaging; whole-exome sequencing

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