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Cell. 2018 Nov 29;175(6):1701-1715.e16. doi: 10.1016/j.cell.2018.10.022. Epub 2018 Nov 15.

Impact of Genetic Polymorphisms on Human Immune Cell Gene Expression.

Author information

1
La Jolla Institute for Allergy and Immunology, La Jolla, CA 92037, USA.
2
Salk Institute for Biological Studies, La Jolla, CA 92037, USA.
3
La Jolla Institute for Allergy and Immunology, La Jolla, CA 92037, USA; Sanford Consortium for Regenerative Medicine, La Jolla, CA 92037, USA; Department of Pharmacology and Moores Cancer Centre, University of California San Diego (UCSD), La Jolla, CA 92037, USA.
4
La Jolla Institute for Allergy and Immunology, La Jolla, CA 92037, USA; Division of Biological Sciences, University of California San Diego, La Jolla, CA 92037, USA.
5
La Jolla Institute for Allergy and Immunology, La Jolla, CA 92037, USA; Department of Medicine, University of California San Diego, La Jolla, CA 92093, USA.
6
La Jolla Institute for Allergy and Immunology, La Jolla, CA 92037, USA; Department of Medicine, University of California San Diego, La Jolla, CA 92093, USA; University of Southampton, Faculty of Medicine, Southampton SO16 6YD, UK. Electronic address: vijay@lji.org.

Abstract

While many genetic variants have been associated with risk for human diseases, how these variants affect gene expression in various cell types remains largely unknown. To address this gap, the DICE (database of immune cell expression, expression quantitative trait loci [eQTLs], and epigenomics) project was established. Considering all human immune cell types and conditions studied, we identified cis-eQTLs for a total of 12,254 unique genes, which represent 61% of all protein-coding genes expressed in these cell types. Strikingly, a large fraction (41%) of these genes showed a strong cis-association with genotype only in a single cell type. We also found that biological sex is associated with major differences in immune cell gene expression in a highly cell-specific manner. These datasets will help reveal the effects of disease risk-associated genetic polymorphisms on specific immune cell types, providing mechanistic insights into how they might influence pathogenesis (https://dice-database.org).

KEYWORDS:

DICE; GWAS; eGenes; eQTLs; gene expression; genetic variants; human immune cells; immunology; sex

PMID:
30449622
PMCID:
PMC6289654
[Available on 2019-11-29]
DOI:
10.1016/j.cell.2018.10.022

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