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

Qian Yang 1,2 • Kang Chen 2,3 • Hanlin Zhang 2,3 • Wanying Zhang4 • Changlin Gong 2,3 • Qing Zhang 1,2 • Pan Liu 1,2 • Tianyi Sun 1,2 • Yuanyuan Xu 5 • Xiaojing Qian1 • Wenying Qiu 1 • Chao Ma 1

1 Institute of Basic Medical Sciences, Department of Human Anatomy, Histology and Embryology, Neuroscience Center, Chinese Academy of Medical Sciences, School of Basic Medicine, Peking Union Medical College, Beijing 100005, China

2 Joint Laboratory of Anesthesia and Pain, Peking Union Medical College, Beijing 100005, China

3 Eight-Year MD Program, Peking Union Medical College, Beijing 100730, China

4 Johns Hopkins Bloomberg School of Public Health, Baltimore, MD 21205, USA

5 National Experimental Teaching Demonstration Center of Basic Medicine, Peking Union Medical College, Beijing 100005, China


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


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