Affiliations: [a] School of Life Science and Technology, Harbin Institute of Technology, Harbin, China
| [b] Department of Pathology, The Affiliated Hospital of Weifang Medical University, Weifang, China
| [c] Department of Anesthesiology, The Affiliated Hospital of Weifang Medical University, Weifang, China
| [d] Tianjin Institute of Industrial Biotechnology, Chinese Academy of Sciences, China
| [e] Department of Mathematics, Harbin Institute of Technology, Harbin, China
Correspondence:
[*]
Correspondence to: Qinghua Jiang, School of Life Science and Technology, Harbin Institute of Technology, Room 415, Building 2E, Science Park, Yikuang Street, Nangang District, Harbin 150080, China. E-mail: qhjiang@hit.edu.cn.
Abstract: Large-scale genome-wide association studies have reported EPHA1 rs11767557 variant to be associated with Alzheimer’s disease (AD) risk in the European population. However, it is still unclear how this variant functionally contributes to the underlying disease pathogenesis. The rs11767557 variant is located approximately 3 kb upstream of EPHA1 gene. We think that rs11767557 may modify the expression of nearby genes such as EPHA1 and further cause AD risk. Until now, the potential association between rs11767557 and the expression of nearby genes has not been reported in previous studies. Here, we evaluate the potential expression association between rs11767557 and EPHA1 using multiple large-scale eQTLs datasets in human brain tissues and the whole blood. The results show that rs11767557 variant could significantly regulate EPHA1 gene expression specifically in human whole blood. These findings may further provide important supplementary information about the regulating mechanisms of rs11767557 variant in AD risk.
Keywords: Alzheimer’s disease, EPHA1, eQTLs, genome-wide association study
