Carotid atherosclerosis (CAS) is associated with increased cardiovascular risk, and
therefore, assessing the genetic versus environmental background of CAS traits is
of key importance. Carotid intima-media-thickness and plaque characteristics seem
to be moderately heritable, with remarkable differences in both heritability and presence
or severity of these traits among ethnicities. Although the considerable role of additive
genetic effects is obvious, based on the results so far, there is an important emphasis
on non-shared environmental factors as well. We aimed to collect and summarize the
papers that investigate twin and family studies assessing the phenotypic variance
attributable to genetic associations with CAS. Genes in relation to CAS markers were
overviewed with a focus on genetic association studies and genome-wide association
studies. Although the role of certain genes is confirmed by studies conducted on large
populations and meta-analyses, many of them show conflicting results. A great focus
should be on future studies elucidating the exact pathomechanism of these genes in
CAS in order to imply them as novel therapeutic targets.
