Further Evidence for Role of Promoter Polymorphisms in TNF Gene in Alzheimer’s Disease

  • Yannan Bin
  • Ling Shu
  • Qizhi Zhu
  • Huanhuan Zhu
  • Junfeng XiaEmail author
Conference paper
Part of the Lecture Notes in Computer Science book series (LNCS, volume 10955)


Tumor necrosis factor (TNF) expression level is associated with regulating effects on Alzheimer’s disease (AD) development. And several TNF SNPs have been reported to associate with AD, however, it is unclear whether TNF SNPs could affect TNF signaling. In this study, the effects of AD related TNF promoter SNPs (rs361525, rs1800629, rs1799724, rs1800630 and rs1799964) on the gene expression were explored by multiple large-scale expression quantitative trait loci (eQTL) datasets. We found that the five SNPs with minor allele could significantly regulate reduced TNF expression on different brain regions or whole blood sample in European population. Consistent with the result of eQTL analysis, we found rs1800630 A allele and rs1799964 C allele were significantly associated with increasing the volumes of brain amygdala based on the Enhancing Neuroimaging Genetics through Meta-Analysis database. These findings suggest that the promoter SNPs in TNF may play protective roles on AD risk. In addition, there was an interesting discovery that rs4248161 C allele significantly reduced the volumes of five brain regions, suggesting its potential risk for AD or other neuropathogenic diseases. Our studies could advance the understanding of the impact of TNF promoter SNPs in AD.


Tumor necrosis factor Alzheimer’s disease Expression quantitative trait loci Brain region 



The authors thank the members of our laboratory for their valuable discussions. This work has been supported by the grants from the National Natural Science Foundation of China (61672037 and 21601001), the Initial Foundation of Doctoral Scientific Research in Anhui University (J01001319) and the Initial Foundation of Postdoctoral Scientific Research in Anhui University (J01002047).


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Copyright information

© Springer International Publishing AG, part of Springer Nature 2018

Authors and Affiliations

  • Yannan Bin
    • 1
  • Ling Shu
    • 2
  • Qizhi Zhu
    • 1
  • Huanhuan Zhu
    • 2
  • Junfeng Xia
    • 1
    Email author
  1. 1.Institute of Physical Science and Information Technology, School of Computer Science and TechnologyAnhui UniversityHefeiChina
  2. 2.School of Life SciencesAnhui UniversityHefeiChina

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