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Journal article

Differential gene expression in macrophages from human atherosclerotic plaques shows convergence on pathways implicated by genome-wide association study risk variants

Abstract:

Objective

Plaque macrophages are intricately involved in atherogenesis and plaque destabilization. We sought to identify functional pathways in human plaque macrophages that are differentially regulated in respect of (1) plaque stability and (2) lipid content. We hypothesized that differentially regulated macrophage gene sets would relate to genome-wide association study variants associated with risk of acute complications of atherosclerosis.

Approach and Results

Results—Forty patients underwent carotid magnetic resonance imaging for lipid quantification before endarterectomy. Carotid plaque macrophages were procured by laser capture microdissection from (1) lipid core and (2) cap region, in 12 recently symptomatic and 12 asymptomatic carotid plaques. Applying gene set enrichment analysis, a number of gene sets were found to selectively upregulate in symptomatic plaque macrophages, which corresponded to 7 functional pathways: inflammation, lipid metabolism, hypoxic response, cell proliferation, apoptosis, antigen presentation, and cellular energetics. Predicted upstream regulators included IL-1β, TNF-α, and NF-κB. In vivo lipid quantification by magnetic resonance imaging correlated most strongly with the upregulation of genes of the IFN/STAT1 pathways. Crossinterrogation of gene set enrichment analysis and meta-analysis gene set enrichment of variant associations showed lipid metabolism pathways, driven by genes coding for APOE and ABCA1/G1 coincided with known risk-associated SNPs (single nucleotide polymorphisms) from genome-wide association studies.

Conclusions

Macrophages from recently symptomatic carotid plaques show differential regulation of functional gene pathways. There were additional quantitative relationships between plaque lipid content and key gene sets. The data show a plausible mechanism by which known genome-wide association study risk variants for atherosclerotic complications could be linked to (1) a relevant cellular process, in (2) the key cell type of atherosclerosis, in (3) a human disease-relevant setting. Visual Overview—An online visual overview is available for this article.

Publication status:
Published
Peer review status:
Peer reviewed

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Publisher copy:
10.1161/ATVBAHA.118.311209

Authors


More by this author
Institution:
University of Oxford
Division:
Medical Sciences Division
Department:
RDM
Sub department:
RDM Cardiovascular Medicine
Role:
Author
More by this author
Institution:
University of Oxford
Division:
Medical Sciences Division
Department:
NDM
Sub department:
Human Genetics Wt Centre
Role:
Author
More by this author
Institution:
University of Oxford
Division:
Medical Sciences Division
Department:
RDM
Sub department:
RDM Cardiovascular Medicine
Role:
Author


More from this funder
Funding agency for:
Biasiolli, L
Grant:
PG/15/74/31747
RE/13/1/30181
More from this funder
Funding agency for:
Goel, A
Kyriakou, T
Choudhury, R
Grant:
Senior Clinical Fellow
090532/Z/09/Z
More from this funder
Funding agency for:
Goel, A
Watkins, H
Choudhury, R
Grant:
Senior Clinical Fellow
More from this funder
Grant:
MR/K00266X/1
MR/K00266X/1
More from this funder
Funding agency for:
Goel, A
Kyriakou, T


Publisher:
American Heart Association
Journal:
Arteriosclerosis, Thrombosis, and Vascular Biology More from this journal
Volume:
38
Issue:
1
Pages:
2718–2730
Publication date:
2018-09-06
Acceptance date:
2018-08-28
DOI:
EISSN:
1524-4636
ISSN:
1079-5642


Keywords:
Pubs id:
pubs:918782
UUID:
uuid:bf8212c0-0fcb-42f7-97da-502056a54541
Local pid:
pubs:918782
Source identifiers:
918782
Deposit date:
2018-10-14

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