University Of Tasmania

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Single cell eQTL mapping identifies cell type specific genetic control of autoimmune disease

journal contribution
posted on 2023-05-21, 12:39 authored by Yazar, S, Alquicira-Hernandez, J, Kristof WingKristof Wing, Senabouth, A, Gordon, MG, Anderson, S, Lu, QY, Rowson, A, Taylor, TRP, Clarke, L, Maccora, K, Chen, C, Anthony CookAnthony Cook, Ye, CJ, Kirsten FairfaxKirsten Fairfax, Alexander HewittAlexander Hewitt, Powell, JE
The human immune system displays substantial variation between individuals, leading to differences in susceptibility to autoimmune disease. We present single-cell RNA sequencing (scRNA-seq) data from 1,267,758 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-eQTLs, with most showing cell type-specific effects on gene expression. We subsequently show how eQTLs have dynamic allelic effects in B cells that are transitioning from naive to memory states and demonstrate how commonly segregating alleles lead to interindividual variation in immune function. Finally, using 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 interindividual variation in the immune system.


Publication title











Menzies Institute for Medical Research


American Association for the Advancement of Science

Place of publication

New York

Rights statement

Copyright © 2022 The Authors, some rights reserved; exclusive licensee American Association for the Advancement of Science. No claim to original U.S. Government Works

Repository Status

  • Restricted

Socio-economic Objectives

Clinical health not elsewhere classified