Single-cell eQTL mapping identifies cell type–specific genetic control of autoimmune disease
Garvan Institute of Medical Research · The University of Queensland · +10 more institutions
Abstract
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 naïve to memory states and demonstrate how commonly segregating alleles lead to interindividual variation in immune function. Finally, using a Mendelian…
Citation impact
- FWCI
- 50.50
- Percentile
- 100%
- References
- 105
Authors
17- SYSeyhan YazarCorresponding
Garvan Institute of Medical Research
- JAJosé Alquicira-HernándezCorresponding
Garvan Institute of Medical Research, The University of Queensland
- KWKristof WingCorresponding
University of Tasmania, Royal Hobart Hospital
- ASAnne Senabouth
Garvan Institute of Medical Research
- MGM. Grace Gordon
University of California, San Francisco
Topics & keywords
- Expression quantitative trait loci
- Mendelian randomization
- Biology
- Immune system
- Genome-wide association study
- Allele
- Genetics
- Autoimmune disease
- Good health and well-being