Forgo Bianka, Medda Emanuela, Hernyes Anita, Szalontai Laszlo, Tarnoki David Laszlo, Tarnoki Adam Domonkos
Department of Radiology,Semmelweis University,Budapest,Hungary.
Centre for Behavioural Sciences and Mental Health,Istituto Superiore di Sanità,Rome,Italy.
Twin Res Hum Genet. 2018 Oct;21(5):333-346. doi: 10.1017/thg.2018.45. Epub 2018 Jul 6.
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.
颈动脉粥样硬化（CAS）与心血管风险增加相关，因此，评估CAS特征的遗传背景与环境背景至关重要。颈动脉内膜中层厚度和斑块特征似乎具有中度遗传性，不同种族在这些特征的遗传性以及存在情况或严重程度方面存在显著差异。尽管加性基因效应的重要作用显而易见，但根据目前的研究结果，非共享环境因素也受到了重要关注。我们旨在收集并总结那些调查双胞胎和家族研究的论文，这些研究评估了与CAS遗传关联相关的表型变异。对与CAS标志物相关的基因进行了综述，重点关注基因关联研究和全基因组关联研究。尽管对大量人群进行的研究和荟萃分析证实了某些基因的作用，但其中许多研究结果相互矛盾。未来的研究应重点阐明这些基因在CAS中的确切发病机制，以便将它们作为新的治疗靶点。
