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

作     者：Qian Yang Kang Chen Hanlin Zhang Wanying Zhang Changlin Gong Qing Zhang Pan Liu Tianyi Sun Yuanyuan Xu Xiaojing Qian Wenying Qiu Chao Ma 

作者机构：Institute of Basic Medical SciencesDepartment of Human AnatomyHistology and EmbryologyNeuroscience CenterChinese Academy of Medical SciencesSchool of Basic MedicinePeking Union Medical College Joint Laboratory of Anesthesia and PainPeking Union Medical College Eight-Year MD ProgramPeking Union Medical College Johns Hopkins Bloomberg School of Public Health National Experimental Teaching Demonstration Center of Basic MedicinePeking Union Medical College 

出 版 物：《Neuroscience Bulletin》 (神经科学通报（英文版）)

年 卷 期：2019年第35卷第2期

页      面：193-204页

核心收录：

学科分类：1002[医学-临床医学] 100203[医学-老年医学] 10[医学] 

基　　金：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) the Natural Science Foundation and Major Basic Research Program of Shanghai Municipality,China(16JC1420500 and 16JC1420502) 

主　　题：Human brain bank Alzheimer's disease APOEε4 ADAM10 SLC24A4 

摘      要：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 *** ?4(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(Ab 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.