Single-cell RNA sequencing identifies celltype-specific cis-eQTLs and co-expression QTLs

Lifelines Cohort Study, BIOS Consortium

OnderzoeksoutputAcademicpeer review

89 Citaten (Scopus)


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-specific3-5. To identify these celltype-specific eQTLs using an unbiased approach, we used single-cell RNA sequencing to generate expression profiles of ~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'). Single-cell eQTL analysis thus allows for the identification of genetic variants that impact regulatory networks.

Originele taal-2English
Pagina's (van-tot)493-497
Aantal pagina's5
TijdschriftNature Genetics
Nummer van het tijdschrift4
StatusPublished - 2-apr-2018

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