Institute of Histology and Embryology, Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia.
Curr Vasc Pharmacol. 2019;17(1):16-24. doi: 10.2174/1570161116666180206112635.
Atherosclerosis and its cardiovascular complications are the main cause of death in diabetic patients. Patients with diabetes mellitus have a greater than 10-fold risk of cardiovascular disease in their lifetime. The carotid Intima-Media Thickness (cIMT), a surrogate marker for the presence and progression of atherosclerosis, predicts future cardiovascular events in asymptomatic subjects with Type 2 Diabetes Mellitus (T2DM). This review focuses on genetic variants that contribute to the pathobiology of subclinical atherosclerosis in the setting of T2DM. Specifically, we devoted our attention to wellstudied genes selected for their relevance for atherosclerosis. These include: The Renin-Angiotensin- Aldosterone System (RAAS), Apolipoprotein E (ApoE), Methylenetetrahydrofolate Reductase (MTHFR) and pro-inflammatory genes. The ever-growing availability of advanced genotyping technologies has made Genome-Wide Association Studies (GWAS) possible. Although several bioinformatics tools have been developed to manage and interpret the huge amounts of data produced, there has been limited success in the many attempts to uncover the biological meaning of the novel susceptibility loci for atherosclerosis.
动脉粥样硬化及其心血管并发症是糖尿病患者死亡的主要原因。糖尿病患者一生中发生心血管疾病的风险增加了 10 倍以上。颈动脉内膜中层厚度（cIMT）是动脉粥样硬化存在和进展的替代标志物，可预测 2 型糖尿病（T2DM）无症状患者的未来心血管事件。本综述重点介绍了导致 T2DM 亚临床动脉粥样硬化病理生物学的遗传变异。具体而言，我们专注于经过充分研究的基因，这些基因因其与动脉粥样硬化的相关性而被选中。其中包括：肾素-血管紧张素-醛固酮系统（RAAS）、载脂蛋白 E（ApoE）、亚甲基四氢叶酸还原酶（MTHFR）和促炎基因。先进的基因分型技术的可用性不断增加，使得全基因组关联研究（GWAS）成为可能。尽管已经开发了几种生物信息学工具来管理和解释产生的大量数据，但在揭示动脉粥样硬化新的易感位点的生物学意义方面，多次尝试都收效甚微。
