Single-cell eQTL mapping identifies cell type specific genetic control of autoimmune disease [scRNAseq_data]

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UID: 11403

Author(s): Yazar, Seyhan, Powell, Joseph E., Hewitt, Alex W.

Description: Summary from GEO:

"The human immune system displays remarkable variation between individuals, leading to differences in susceptibility to autoimmune disease. We present single cell RNA sequence data from 1,267,768 peripheral blood mononuclear cells from 982 healthy human subjects. For 14 cell types, we identified 26,597 independent cis-expression quantitative trait loci (eQTLs) and 990 trans-eQTL, with the majority showing cell type specific effects on gene expression. We subsequently show how eQTLs have dynamic allelic effects in B cells transitioning from na√Øve to memory states and demonstrate how commonly segregating alleles lead to inter-individual variation in immune function. Finally, utilizing a Mendelian randomization approach, we identify the causal route by which 305 risk loci contribute to autoimmune disease at the cellular level. This work brings together genetic epidemiology with scRNA-seq to uncover drivers of inter-individual variation in the immune system."

Overall design from GEO:

"Human PBMC mRNA profiles at single cell resolution."

Subject of Study

Subject(s)

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