Correlations Between Single Nucleotide Polymorphisms, Cognitive Dysfunction, and Postmortem Brain Pathology in Alzheimer’s Disease Among Han Chinese

  • Qian Yang
  • Kang Chen
  • Hanlin Zhang
  • Wanying Zhang
  • Changlin Gong
  • Qing Zhang
  • Pan Liu
  • Tianyi Sun
  • Yuanyuan Xu
  • Xiaojing Qian
  • Wenying QiuEmail author
  • Chao MaEmail author
Original Article


In this study, the distribution of five Alzheimer’s disease (AD)-related single nucleotide polymorphisms (SNPs) in the Han population was examined in combination with the evaluation of clinical cognition and brain pathological analysis. The associations among SNPs, clinical daily cognitive states, and postmortem neuropathological changes were analyzed in 110 human brains from the Chinese Academy of Medical Sciences/Peking Union Medical College (CAMS/PUMC) Human Brain Bank. APOE ε4 (OR = 4.482, P = 0.004), the RS2305421 GG genotype (adjusted OR = 4.397, P = 0.015), and the RS10498633 GT genotype (adjusted OR = 2.375, P = 0.028) were associated with a higher score on the ABC (Aβ plaque score, Braak NFT stage, and CERAD neuritic plaque score) dementia scale. These results advance our understanding of the pathogenesis of AD, the relationship between pathological diagnosis and clinical diagnosis, and the SNPs in the Han population for future research.


Human brain bank Alzheimer’s disease APOE ε4 ADAM10 SLC24A4 



We would like to extend our appreciation to Ms. Yunli Ling for preparing the mounted paraffin sections. This work was supported by grants from the National Natural Science Foundation of China (81271239, 81771205, and 91632113), the Institute of Basic Medical Sciences/Chinese Academy of Medical Sciences (CAMS) Dean’s Fund (2011RC01), the CAMS Innovation Fund for Medical Sciences (2016-I2M-1004), and the Natural Science Foundation and Major Basic Research Program of Shanghai Municipality, China (16JC1420500 and 16JC1420502).

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Copyright information

© Shanghai Institutes for Biological Sciences, CAS 2019

Authors and Affiliations

  • Qian Yang
    • 1
    • 2
  • Kang Chen
    • 2
    • 3
  • Hanlin Zhang
    • 2
    • 3
  • Wanying Zhang
    • 4
  • Changlin Gong
    • 2
    • 3
  • Qing Zhang
    • 1
    • 2
  • Pan Liu
    • 1
    • 2
  • Tianyi Sun
    • 1
    • 2
  • Yuanyuan Xu
    • 5
  • Xiaojing Qian
    • 1
  • Wenying Qiu
    • 1
    Email author
  • Chao Ma
    • 1
    Email author
  1. 1.Institute of Basic Medical Sciences, Department of Human Anatomy, Histology and Embryology, Neuroscience Center, Chinese Academy of Medical Sciences, School of Basic MedicinePeking Union Medical CollegeBeijingChina
  2. 2.Joint Laboratory of Anesthesia and PainPeking Union Medical CollegeBeijingChina
  3. 3.Eight-Year MD ProgramPeking Union Medical CollegeBeijingChina
  4. 4.Johns Hopkins Bloomberg School of Public HealthBaltimoreUSA
  5. 5.National Experimental Teaching Demonstration Center of Basic MedicinePeking Union Medical CollegeBeijingChina

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