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Updated: May 13, 2026
06:59
Quantification of Atherosclerosis in Mice
Published on: June 12, 2019
Genetic-genomic replication to identify candidate mouse atherosclerosis modifier genes.
Jeffrey Hsu1, Jonathan D Smith
1Department of Molecular Medicine, Cleveland Clinic, Lerner College of Medicine, Case Western Reserve University, Cleveland, OH, USA.
Journal of the American Heart Association
|March 26, 2013
Summary
This study confirmed three genetic loci on mouse chromosomes 2, 15, and 17 associated with atherosclerosis susceptibility. Researchers identified candidate atherosclerosis modifier genes using bioinformatics and gene expression analysis.
Area of Science:
- Genetics
- Cardiovascular Research
- Bioinformatics
Background:
- Atherosclerosis susceptibility has a strong genetic component in both humans and mice.
- Previous studies have identified quantitative trait loci (QTLs) associated with atherosclerosis in mice.
- Identifying specific genes underlying these QTLs is crucial for understanding disease mechanisms.
Purpose of the Study:
- To confirm previously identified mouse atherosclerosis-associated loci.
- To utilize bioinformatics and transcriptomics to generate a catalog of candidate atherosclerosis modifier genes.
- To identify genetic variations and expression quantitative trait loci (eQTLs) within these loci.
Main Methods:
- Performed a strain intercross between AKR and DBA/2 mice on an apoE(-/-) background, generating 166 F2 progeny.
- Analyzed aortic root lesion area as the phenotype to identify atherosclerosis quantitative trait loci (Ath QTLs).
- Conducted bioinformatics analysis, including identifying protein-coding differences and performing microarray gene expression profiling to detect expression QTLs (eQTLs).
Main Results:
- Confirmed three significant Ath QTLs on mouse chromosomes 2, 15, and 17, meeting genome-wide significance thresholds.
- Identified all protein-coding differences between the mouse strains within the Ath QTL intervals.
- Detected replicated cross-tissue and macrophage eQTLs, providing a list of candidate atherosclerosis modifier genes.
Conclusions:
- Replication studies are valuable for validating genetic associations for complex traits like atherosclerosis.
- The study successfully replicated three key loci associated with atherosclerosis in mice.
- Identified protein-coding differences and replicated eQTLs provide a strong foundation for pinpointing specific atherosclerosis modifier genes.
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