›› 2019, Vol. 39 ›› Issue (2): 153-.doi: 10.3969/j.issn.1674-8115.2019.02.009

• Original article (Clinical research) • Previous Articles     Next Articles

Association analysis ofEGR1gene and Alzheimers disease in Han Chinese people

FANG Xin-yu1, LU Wei-hong1, WANG Hui-zhen2, NI Jian-liang3, ZHANG Jiang-tao3, CAI Jun1, LI Tao4, ZHANG Deng-feng2, ZHANG Chen1   

  1. 1. Biochemical Laboratory, Shanghai Mental Health Center, Shanghai Jiao Tong University School of Medicine, Shanghai 200030, China; 2. Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming 650223, China; 3. Department of Mental Health, Tongde Hospital of Zhejiang Province, Hangzhou 310007, China; 4. Psychological Health Center, West China Hospital, Sichuan University, Chengdu 610041, China
  • Online:2019-02-28 Published:2019-03-19
  • Supported by:
    National Natural Science Foundation of China, 81471358, 81771450; Shanghai Municipal Education Commission— Gaofeng Clinical Medicine Support, 20152530; Key Scientific Research Project of Shanghai Municipal Commission of Health and Family Planning, 201540029

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Abstract: Objective · To investigate the association between early growth response gene 1 (EGR1) and Alzheimers disease (AD) in Han Chinese people. Methods · A total of 715 AD patients and 760 health controls were recruited in two independent samples Eastern China (382 AD patients and 426 normal individuals) and Southwest China (333 AD patients and 334 normal individuals) . SNaPshot technique was utilized to analyse the single nucleotide polymorphism (SNP) of rs11743810. A public database was used to explore whether EGR1 gene was differentially expressed in the brain of AD patients and health controls. Then the protein-protein interaction (PPI) assessment was conducted using the STRING database, and the brain eQTL ( quantitative trait loci) analysis was used to explore the difference in rs11743810 between different genotypes in different brain regions. Results · Cross-platform normalized data showed that there was significant difference of EGR1 in temporal cortex between AD patients and control subjects (|log2FC|0.780, P0.000 before FDR corrected; P0.001 after FDR corrected). PPI analysis revealed that EGR1 was physically connected with amyloid precursor protein (APP) and clusterin (CLU) protein in the network. However, different genotypes of rs11743810 showed no significant difference in in 10 brain regions, and no significant difference in the genotype and allele frequency of rs11743810 between AD patients and controls were found in our two independent samples. Conclusion · The rs11743810 in EGR1 may not be major susceptibility gene site for AD in Han Chinese people.

Key words: Alzheimers disease, gene polymorphism, early growth response gene 1 (EGR1), quantitative trait loci (eQTL), differential

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