Genetic determinants of carotid ultrasound traits

Atherosclerosis is a complex disease with various intermediate phenotypes that are themselves complex and influenced by many factors. Through the use of carotid ultrasound techniques, the intermediate stages of vascular disease can be imaged and studied for association with potential genetic determinants. In this article we review the most recent available data (reports published since 2004) on the genetic determinants of atherosclerosis, as measured by one-, two-, and three-dimensional ultrasonography of the carotid arteries. In general, associations are disparate and modest. For intima-media thickness, promising associations have been found for both TNFRSF1A R92Q and PPARG P12A, but associations also differed in the same individuals depending on the specific ultrasound trait studied (eg, linear intima-media thickness versus total plaque volume in carotid arteries). Some of the challenging issues for future studies include accounting for gene-environment interactions, sex-specific associations, and the distinctiveness of different carotid ultrasound measures.