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. 2012 Feb;32(2):207-15.
doi: 10.1161/ATVBAHA.111.232694.

Beyond genome-wide association studies: the usefulness of mouse genetics in understanding the complex etiology of atherosclerosis

Carrie L Welch  1
Affiliations

Beyond genome-wide association studies: the usefulness of mouse genetics in understanding the complex etiology of atherosclerosis

Carrie L Welch. Arterioscler Thromb Vasc Biol. 2012 Feb.

Abstract

The development of population-based genome-wide association studies has led to the rapid identification of large numbers of genetic variants associated with coronary artery disease (CAD) and related traits. Together with large-scale gene-centric studies, at least 35 loci associated with CAD per se have been identified with replication. The majority of these associations are with common single-nucleotide polymorphisms exhibiting modest effects on relative risk. The modest nature of the effects, coupled with ethical/practical constraints associated with human sampling, makes it difficult to answer important questions beyond gene/locus localization and allele frequency via human genetic studies. Questions related to gene function, disease-causing mechanism(s), and effective interventions will likely require studies in model organisms. The use of the mouse model for further detailed studies of CAD-associated loci identified by genome-wide association studies is highlighted herein.

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