Journal
NATURE GENETICS
Volume 50, Issue 4, Pages 493-+Publisher
NATURE PORTFOLIO
DOI: 10.1038/s41588-018-0089-9
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Funding
- Dutch Research Council [ZonMW-VIDI 917.164.455, ZonMW-VIDI 917.14.374]
- ERC [637640]
- BBMRI-NL - Dutch government [NWO 184.021.007]
- European Research Council (ERC) [637640] Funding Source: European Research Council (ERC)
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Genome-wide association studies have identified thousands of genetic variants that are associated with disease(1). Most of these variants have small effect sizes, but their downstream expression effects, so-called expression quantitative trait loci (eQTLs), are often large(2) and celltype-specific(3-5). To identify these celltype-specific eQTLs using an unbiased approach, we used single-cell RNA sequencing to generate expression profiles of similar to 25,000 peripheral blood mononuclear cells from 45 donors. We identified previously reported cis-eQTLs, but also identified new celltype-specific cis-eQTLs. Finally, we generated personalized co-expression networks and identified genetic variants that significantly alter co-expression relationships (which we termed 'co-expression QTLs'). Singlecell eQTL analysis thus allows for the identification of genetic variants that impact regulatory networks.
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