Aim

Genome-wide association studies have identified thousands of genetic variants that are associated with disease. Most of these variants have small effect sizes, but their downstream expression effects, so-called expression quantitative trait loci (eQTLs), are often large and celltype-specific. To identify these celltype-specific eQTLs using an unbiased approach, the researchers used single-cell RNA sequencing to generate expression profiles of ~25,000 peripheral blood mononuclear cells from 45 donors of the Lifelines DEEP study.

Conclusion

The researchers identified previously reported cis-eQTLs, but also identified new celltype-specific cis-eQTLs. Finally, they generated personalized co-expression networks and identified genetic variants that significantly alter co-expression relationships (which they termed ‘co-expression QTLs’). Single-cell eQTL analysis thus allows for the identification of genetic variants that impact regulatory networks.

Read more

Read the entire Nature Genetics article: Single-cell RNA sequencing identifies cell type-specific cis-eQTLs and co-expression QTLs

More information on the additional study: Lifelines DEEP project