期刊
JOURNAL OF MOLECULAR NEUROSCIENCE
卷 66, 期 1, 页码 37-43出版社
HUMANA PRESS INC
DOI: 10.1007/s12031-018-1144-9
关键词
Alzheimer's disease; GAB2; Genome-wide association study; eQTLs
资金
- National Nature Science Foundation of China [61571152]
- National High-tech R&D Program of China (863 Program) [2014AA021505, 2015AA020101, 2015AA020108]
- National Science and Technology Major Project [2013ZX03005012, 2016YFC1202302]
Genetic association studies have identified significant association between the GAB2 rs2373115 variant and Alzheimer's disease (AD). However, it is unknown whether rs2373115 affects the regulation of nearby genes. Here, we evaluate the potential effect of rs2373115 on gene expression using multiple eQTL (expression quantitative trait loci) datasets from human brain tissues from the Mayo Clinic brain expression genome-wide association study (eGWAS), the UK Brain Expression Consortium (UKBEC), the Genotype-Tissue Expression (GTEx) project, and the Brain xQTL Serve. Our findings indicate that the rs2373115 C allele is associated with increased NARS2 expression, and both reduced and increased GAB2 expression in human tissues. Using a large-scale AD case-control expression dataset, we found increased GAB2 expression and reduced NARS2 expression in AD cases compared with controls. We believe that our findings provide important information regarding the rs2373115 variant and expression of nearby genes with respect to AD risk.
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