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Polygenic Analysis of Late-Onset Alzheimer's Disease from Mainland China (2015)_香港中文大学

香港中文大学 辅仁网/2017-06-25

Polygenic Analysis of Late-Onset Alzheimer's Disease from Mainland China
Publication in refereed journal


香港中文大学研究人员 ( 现职)
韦妙宜教授 (那打素护理学院)
王海天教授 (赛马会公共卫生及基层医疗学院)


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Web of Sciencehttp://aims.cuhk.edu.hk/converis/portal/Publication/9WOS source URL

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摘要Recently, a number of single nucleotide polymorphisms (SNPs) were identified to be associated with late-onset Alzheimer disease (LOAD) through genome-wide association study data. Identification of SNP-SNP interaction played an important role in better understanding genetic basis of LOAD. In this study, fifty-eight SNPs were screened in a cohort of 22http://aims.cuhk.edu.hk/converis/portal/Publication/9 LOAD cases and 318 controls from mainland China, and their interaction was evaluated by a series of analysis methods. Seven risk SNPs and six protective SNPs were identified to be associated with LOAD. Risk SNPs included rshttp://aims.cuhk.edu.hk/converis/portal/Publication/9331888 (CLU), rs66http://aims.cuhk.edu.hk/converis/portal/Publication/91117 (CR1), rs4http://aims.cuhk.edu.hk/converis/portal/Publication/938http://aims.cuhk.edu.hk/converis/portal/Publication/933 (MS4A), rshttp://aims.cuhk.edu.hk/converis/portal/Publication/934http://aims.cuhk.edu.hk/converis/portal/Publication/9407 (CD2AP), rs1160http://aims.cuhk.edu.hk/converis/portal/Publication/985 (TOMM40), rs4http://aims.cuhk.edu.hk/converis/portal/Publication/945261 (GAB2) and rs5http://aims.cuhk.edu.hk/converis/portal/Publication/9848http://aims.cuhk.edu.hk/converis/portal/Publication/94 (PCDH11X); Protective SNPs consisted of rs744373 (BIN1), rs1562http://aims.cuhk.edu.hk/converis/portal/Publication/9http://aims.cuhk.edu.hk/converis/portal/Publication/90 (MS4A), rs5http://aims.cuhk.edu.hk/converis/portal/Publication/97668 (EXOC3L2), rshttp://aims.cuhk.edu.hk/converis/portal/Publication/92711http://aims.cuhk.edu.hk/converis/portal/Publication/92 (HLA-DRB5/DRB1), rs157581 and rs11556505 (TOMM40). Among positive SNPs presented above, we found the interaction between rs4http://aims.cuhk.edu.hk/converis/portal/Publication/938http://aims.cuhk.edu.hk/converis/portal/Publication/933 (risk) and rs1562http://aims.cuhk.edu.hk/converis/portal/Publication/9http://aims.cuhk.edu.hk/converis/portal/Publication/90 (protective) in MS4A weakened their each effect for LOAD; for three significant SNPs in TOMM40, their cumulative interaction induced the two protective SNPs effects lost and made the risk SNP effect aggravate for LOAD. Finally, we found rs6656401-rs3865444 (CR1-CD33) pairs were significantly associated with decreasing LOAD risk, while rs28834http://aims.cuhk.edu.hk/converis/portal/Publication/970-rs6656401 (PTK2B-CR1), and rs28834http://aims.cuhk.edu.hk/converis/portal/Publication/970-rs6656401 (PTK2B-CD33) were associated with increasing LOAD risk. In a word, our study indicates that SNP-SNP interaction existed in the same gene or cross different genes, which could weaken or aggravate their initial single effects for LOAD.

着者Jiao B, Liu XY, Zhou L, Wang MH, Zhou YF, Xiao TT, Zhang WW, Sun R, Waye MMY, Tang BS, Shen L
期刊名称PLoS ONE
出版年份2015
月份12
日期17
卷号10
期次12
出版社PUBLIC LIBRARY SCIENCE
国际标準期刊号1http://aims.cuhk.edu.hk/converis/portal/Publication/932-6203
语言英式英语

Web of Science 学科类别Multidisciplinary Sciences; Science & Technology - Other Topics

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