PT  - JOURNAL ARTICLE
AU  - Inken Wohlers
AU  - Colin Schulz
AU  - Fabian Kilpert
AU  - Lars Bertram
TI  - Alzheimer’s disease risk SNPs show no strong effect on miRNA expression in human lymphoblastoid cell lines
AID  - 10.1101/367318
DP  - 2018 Jan 01
TA  - bioRxiv
PG  - 367318
4099  - http://biorxiv.org/content/early/2018/07/11/367318.short
4100  - http://biorxiv.org/content/early/2018/07/11/367318.full
AB  - The role of microRNAs (miRNAs) in the pathogenesis of Alzheimer’s disease (AD) is currently extensively investigated. In this study, we assessed the potential impact of AD genetic risk variants on miRNA expression by performing large-scale bioinformatic data integration. Our analysis was based on genetic variants from three AD genome-wide association studies (GWAS). Association with miRNA expression was tested by expression quantitative trait loci (eQTL) analysis using next-generation miRNA sequencing data generated in lymphoblastoid cell lines (LCL). While, overall, we did not identify a strong effect of AD GWAS variants on miRNA expression in this cell type we highlight two notable outliers, i.e. miR-29c-5p and miR-6840-5p. MiR-29c-5p was recently reported to be involved in the regulation of BACE1 and SORL1 expression. In conclusion, despite two exceptions our large-scale assessment provides only limited support for the hypothesis that AD GWAS variants act as miRNA eQTLs.