Carotid Artery Atherosclerosis: A Review on Heritability and Genetics

Abstract

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.

Association Between LOX-1, LAL, and ACAT1 Gene Single Nucleotide Polymorphisms and Carotid Plaque in a Northern Chinese Population

“…A therosclerosis is a chronic vascular inflammatory disease characterized by excessive accumulation of foam cells in the arterial wall, plaque formation, and ultimate stenosis of blood vessels (Sini et al, 2018). Carotid atherosclerosis, which is a manifestation of atherosclerotic disease in the cervical arteries, leads to obstruction of blood supply to the brain and has been recognized as a risk factor for ischemic stroke (Forgo et al, 2018). Presence of carotid plaque has been widely used to assess the risk of clinical atherosclerotic disease (Bonanno et al, 2017).…”

Association Between M235T-AGT and I/D-ACE Polymorphisms and Carotid Atheromatosis in Hypertensive Patients: A Cross-Sectional Study

“…In addition, in a study carried out by Zhang et al (2004), the D/D-ACE genotype was considered an independent risk factor and predisposes to cerebral microatheromatous disease, as well as to lacunar stroke (46). Forgo et al (2018), in a meta-analysis including 9800 Asian and Caucasian hypertensive patients diagnosed with cerebrovascular ischemic disease, type 1 and 2 DM, have demonstrated that the I/D-ACE genotype was associated with an increase in cIMT >1 mm (5). A comparative study in a European and Asian population conducted by Xia et al (2019) ihas shown that the D allele was associated with an increased risk of ATS in European compared to Asian subjects (28).…”

“…There is a genetic predisposition of pateints with the M235T-AGT and I/D-ACE genotypes to IHD, ischemic stroke, EHT, and diabetes mellitus (DM) (5,25,26).…”

Diagnostic efficacy of intravascular ultrasound combined with Gd2O3‑EPL contrast agent for patients with atherosclerosis

“…Atherosclerosis is a cardiovascular disease and a systemic chronic inflammatory disease that predominantly affects medium-sized arteries (1). Atherosclerosis is characterized by autoimmune response damage to the arterial wall accompanied with the subintimal accumulation of lipids, vascular smooth muscle cells and immunocompetent cells, which is pathologically associated with atherosclerotic plaque development and vascular vulnerability (2)(3)(4). In particular, pathology analysis revealed that the crucial event in the initiation and development of atherosclerosis is endothelial injury (5)(6)(7).…”