Single-cell RNA sequencing reveals cell-type specific cis-eQTLs in peripheral blood mononuclear cells

Abstract

Most disease-associated genetic risk factors are regulatory. Here, we generated single-cell RNA-seq data of [~]25,000 peripheral blood mononuclear cells from 45 donors to identify how genetic variants affect gene expression. We validated this approach by replicating previously published whole blood RNA-seq cis-expression quantitative trait loci effects (cis-eQTLs), but also identified new cell type-specific cis-eQTLs. These eQTLs give additional insight into the downstream consequences of genetic risk factors for immune-mediated diseases.