Please use this identifier to cite or link to this item:
https://doi.org/10.1371/journal.pgen.1005908
Title: | Insight into Genotype-Phenotype Associations through eQTL Mapping in Multiple Cell Types in Health and Immune-Mediated Disease | Authors: | Peters J.E. Lyons P.A. Lee J.C. Richard A.C. Fortune M.D. Newcombe P.J. Richardson S. Smith K.G.C. |
Keywords: | genomic DNA adult ANCA associated vasculitis Article B lymphocyte CD4+ T lymphocyte CD8+ T lymphocyte controlled study Crohn disease gene expression genetic association genetic variability genotype genotype phenotype correlation human human cell immunocompetent cell immunopathology major clinical study monocyte neutrophil quantitative trait locus mapping ulcerative colitis female gene expression regulation genetic association study genetic predisposition genetics genome-wide association study immunology inflammatory bowel disease male metabolism pathology phenotype quantitative trait locus T lymphocyte Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis Female Gene Expression Regulation Genetic Association Studies Genetic Predisposition to Disease Genome-Wide Association Study Humans Inflammatory Bowel Diseases Male Monocytes Neutrophils Phenotype Quantitative Trait Loci T-Lymphocytes |
Issue Date: | 2016 | Citation: | Peters J.E., Lyons P.A., Lee J.C., Richard A.C., Fortune M.D., Newcombe P.J., Richardson S., Smith K.G.C. (2016). Insight into Genotype-Phenotype Associations through eQTL Mapping in Multiple Cell Types in Health and Immune-Mediated Disease. PLoS Genetics 12 (3) : e1005908. ScholarBank@NUS Repository. https://doi.org/10.1371/journal.pgen.1005908 | Rights: | CC0 1.0 Universal | Abstract: | Genome-wide association studies (GWAS) have transformed our understanding of the genetics of complex traits such as autoimmune diseases, but how risk variants contribute to pathogenesis remains largely unknown. Identifying genetic variants that affect gene expression (expression quantitative trait loci, or eQTLs) is crucial to addressing this. eQTLs vary between tissues and following in vitro cellular activation, but have not been examined in the context of human inflammatory diseases. We performed eQTL mapping in five primary immune cell types from patients with active inflammatory bowel disease (n = 91), anti-neutrophil cytoplasmic antibody-associated vasculitis (n = 46) and healthy controls (n = 43), revealing eQTLs present only in the context of active inflammatory disease. Moreover, we show that following treatment a proportion of these eQTLs disappear. Through joint analysis of expression data from multiple cell types, we reveal that previous estimates of eQTL immune cell-type specificity are likely to have been exaggerated. Finally, by analysing gene expression data from multiple cell types, we find eQTLs not previously identified by database mining at 34 inflammatory bowel disease-associated loci. In summary, this parallel eQTL analysis in multiple leucocyte subsets from patients with active disease provides new insights into the genetic basis of immune-mediated diseases. ? 2016, Public Library of Science. All Rights Reserved. | Source Title: | PLoS Genetics | URI: | https://scholarbank.nus.edu.sg/handle/10635/161919 | ISSN: | 15537390 | DOI: | 10.1371/journal.pgen.1005908 | Rights: | CC0 1.0 Universal |
Appears in Collections: | Elements Staff Publications |
Show full item record
Files in This Item:
File | Description | Size | Format | Access Settings | Version | |
---|---|---|---|---|---|---|
10_1371_journal_pgen_1005908.pdf | 1.98 MB | Adobe PDF | OPEN | None | View/Download |
This item is licensed under a Creative Commons License