Cardiovascular diseases are the foremost contributor to global mortality, presenting a complex etiology and an expanding array of risk factors. Coronary artery disease characterized by atherosclerotic plaque build-up in the coronary arteries, imposes significant mortality and financial burdens, especially in low- and middle-income nations. The pathogenesis of coronary artery disease involves a multifaceted interplay of genetic, environmental, and epigenetic factors. Epigenetic regulation contributes to the dynamic control of gene expression without altering the underlying DNA sequence. The mounting evidence that highlights the pivotal role of epigenetic regulation in coronary artery disease development and progression, offering potential avenues for the development of novel diagnostic biomarkers and therapeutic targets. Abnormal DNA methylation patterns are linked to the modulation of gene expression involved in crucial processes like lipid metabolism, inflammation, and vascular function in the context of coronary artery disease. Cell-free DNA has become invaluable in tumor biology as a liquid biopsy, while its applications in coronary artery disease are limited, but intriguing. Atherosclerotic plaque rupture causes myocardial infarction, by depriving heart muscles of oxygen, releasing cell-free DNA from dead cardiac cells, and providing a minimally invasive source to explore tissue-specific epigenetic alterations. We discussed the methodologies for studying the global methylome and hydroxy-methylome landscape, their advantages, and limitations. It explores methylome alterations in coronary artery disease, considering risk factors and their relevance in coronary artery disease genesis. The review also details the implications of MI-derived cell-free DNA for developing minimally invasive biomarkers and associated challenges.

中文翻译：

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无细胞 DNA 衍生甲基化组作为冠状动脉疾病非侵入性生物标志物的最新进展

心血管疾病是全球死亡率的首要因素，其病因复杂，危险因素不断增加。以冠状动脉中动脉粥样硬化斑块积聚为特征的冠状动脉疾病会造成严重的死亡率和经济负担，特别是在低收入和中等收入国家。冠状动脉疾病的发病机制涉及遗传、环境和表观遗传因素的多方面相互作用。表观遗传调控有助于动态控制基因表达，而不改变潜在的 DNA 序列。越来越多的证据强调了表观遗传调控在冠状动脉疾病发生和进展中的关键作用，为开发新型诊断生物标志物和治疗靶点提供了潜在途径。异常的 DNA 甲基化模式与基因表达的调节有关，这些基因表达涉及冠状动脉疾病中脂质代谢、炎症和血管功能等关键过程。无细胞 DNA 作为液体活检在肿瘤生物学中已变得非常宝贵，虽然其在冠状动脉疾病中的应用有限，但很有趣。动脉粥样硬化斑块破裂导致心肌梗塞，其原因是心肌缺氧，死亡心肌细胞释放游离DNA，并为探索组织特异性表观遗传改变提供微创来源。我们讨论了研究全球甲基化组和羟基甲基化组景观的方法、它们的优点和局限性。它探讨了冠状动脉疾病中的甲基化组改变，考虑了危险因素及其在冠状动脉疾病发生中的相关性。该综述还详细介绍了 MI 衍生的无细胞 DNA 对开发微创生物标志物的影响和相关挑战。