Alzheimer’s Disease rs11767557 Variant Regulates EPHA1 Gene Expression Specifically in Human Whole Blood

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.

Development Of A Three-Gene Prognostic Signature For Hepatitis B Virus Associated Hepatocellular Carcinoma Based On Integrated Transcriptomic Analysis

“…In addition, we also identified many significantly expressed genes, the role of which are still unclear and need further research in HCC, such as EH domain containing 3 (EHD3), aspartoacylase (ASPA) and melanocortin 2 receptor accessory protein 2 (MRAP2). This method could also be used in other human diseases such as neurological disorders 60 , 61 .…”

Influence of ADAM10 Polymorphisms on Plasma Level of Soluble Receptor for Advanced Glycation End Products and The Association With Alzheimer’s Disease Risk

“…All statistical tests for heterogeneity and meta-analysis were computed using R Package 1 . More detailed meta-analysis methods have been widely described in previous studies ( Liu et al, 2013b , 2017a , b , 2018 ; Hu et al, 2017a , b ).…”

“…Moreover, these mice had a clear improvement in memory and alleviation of learning deficits. In recent years, genetic association studies, especially large-scale genome-wide association studies (GWASs), have identified some novel AD risk genes (PICALM, CLU, CR1, BIN1, CD2AP, CD33, ABCA7, EPHA1, PLCG2, ABI3, TREM2) and risk pathways associated with the potential pathogenesis and genetic mechanisms of AD ( Liu et al, 2012 , 2013a , b, 2014a , b , c , 2017b , 2018 ; Lambert et al, 2013 ; Bao et al, 2015 ; Chen et al, 2015 ; Li et al, 2015 , 2016 ; Shen et al, 2015 ; Xiang et al, 2015 ; Zhang et al, 2015 , 2016 ; Jiang et al, 2017 ; Jun et al, 2017 ; Sims and van der Lee, 2017 ). However, a few studies have attempted to investigate the relationship between single nucleotide polymorphisms (SNPs) within the ADAM10 gene and AD risk.…”

Genetic Variant rs755622 Regulates Expression of the Multiple Sclerosis Severity Modifier D-Dopachrome Tautomerase in a Sex-Specific Way

“…Evidence showed that regulating gene expression is an important class of the biological functions of the genetic variants [ 21 – 30 ], and the expression quantitative trait loci (eQTL) analysis is an effective method to discover the correlations between genetic variants and quantitative changes in gene expression [ 21 , 22 , 24 , 25 , 27 , 31 – 33 ]. Therefore, in this study, we first selected five large-scale expression quantitative trait loci (eQTLs) datasets to assess the potential influence of rs755622 variant on expression of DDT in normal brain tissues and blood by a linear regression analysis.…”