3rd Department of Internal Medicine, General University Hospital and 1st Faculty of Medicine, Charles University, 11636 Prague, Czech Republic.
Experimental Medicine Centre, Institute for Clinical and Experimental Medicine, 14021 Prague, Czech Republic.
Int J Mol Sci. 2021 Apr 17;22(8):4182. doi: 10.3390/ijms22084182.
Despite the rapid progress in diagnosis and treatment of cardiovascular disease (CVD), this disease remains a major cause of mortality and morbidity. Recent progress over the last two decades in the field of molecular genetics, especially with new tools such as genome-wide association studies, has helped to identify new genes and their variants, which can be used for calculations of risk, prediction of treatment efficacy, or detection of subjects prone to drug side effects. Although the use of genetic risk scores further improves CVD prediction, the significance is not unambiguous, and some subjects at risk remain undetected. Further research directions should focus on the "second level" of genetic information, namely, regulatory molecules (miRNAs) and epigenetic changes, predominantly DNA methylation and gene-environment interactions.
尽管心血管疾病（CVD）的诊断和治疗取得了快速进展，但该病仍是主要的死亡和发病原因。过去二十年分子遗传学领域的最新进展，尤其是使用全基因组关联研究等新工具，有助于识别新的基因及其变体，这些都可用于计算风险、预测治疗效果或发现易发生药物副作用的对象。尽管遗传风险评分的使用进一步提高了 CVD 预测的准确性，但意义并不明确，仍有一些高危人群未被发现。进一步的研究方向应集中在遗传信息的“第二级”，即调控分子（miRNAs）和表观遗传变化，主要是 DNA 甲基化和基因-环境相互作用。
