Imperial College London
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DrJamesPeters

Faculty of Medicine, Department of Immunology and Inflammation

Clinical Reader in Rheumatology
 
 
 
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j.peters

 
 
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Location

 

ICTEM buildingHammersmith Campus

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Summary

 

Publications

Citation

BibTex format

@article{Peters:2016:10.1371/journal.pgen.1005908,
author = {Peters, JE and Lyons, PA and Lee, JC and Richard, AC and Fortune, MD and Newcombe, PJ and Richardson, S and Smith, KGC},
doi = {10.1371/journal.pgen.1005908},
journal = {PLoS Genetics},
pages = {1--29},
title = {Insight into genotype-phenotype associations through eQTL mapping in multiple cell types in health and immune-mediated disease},
url = {http://dx.doi.org/10.1371/journal.pgen.1005908},
volume = {12},
year = {2016}
}
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RIS format (EndNote, RefMan)

TY  - JOUR
AB  - 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.
AU  - Peters,JE
AU  - Lyons,PA
AU  - Lee,JC
AU  - Richard,AC
AU  - Fortune,MD
AU  - Newcombe,PJ
AU  - Richardson,S
AU  - Smith,KGC
DO  - 10.1371/journal.pgen.1005908
EP  - 29
PY  - 2016///
SN  - 1553-7390
SP  - 1
TI  - Insight into genotype-phenotype associations through eQTL mapping in multiple cell types in health and immune-mediated disease
T2  - PLoS Genetics
UR  - http://dx.doi.org/10.1371/journal.pgen.1005908
UR  - http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000373268900020&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=1ba7043ffcc86c417c072aa74d649202
UR  - https://journals.plos.org/plosgenetics/article?id=10.1371/journal.pgen.1005908
UR  - http://hdl.handle.net/10044/1/74596
VL  - 12
ER  -
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