Institute for Molecular Medicine Finland (FIMM), HiLIFE, University of Helsinki, Helsinki, Finland.
J Intern Med. 2022 Sep;292(3):390-408. doi: 10.1111/joim.13496. Epub 2022 Apr 19.
DNA methylation is an epigenetic modification that has consistently been shown to be linked with a variety of human traits and diseases. Because DNA methylation is dynamic and potentially reversible in nature and can reflect environmental exposures and predict the onset of diseases, it has piqued interest as a potential disease biomarker. DNA methylation patterns are more stable than transcriptomic or proteomic patterns, and they are relatively easy to measure to track exposure to different environments and risk factors. Importantly, technologies for DNA methylation quantification have become increasingly cost effective-accelerating new research in the field-and have enabled the development of novel DNA methylation biomarkers. Quite a few DNA methylation-based predictors for a number of traits and diseases already exist. Such predictors show potential for being more accurate than self-reported or measured phenotypes (such as smoking behavior and body mass index) and may even hold potential for applications in clinics. In this review, we will first discuss the advantages and challenges of DNA methylation biomarkers in general. We will then review the current state and future potential of DNA methylation biomarkers in two human traits that show rather consistent alterations in methylome-obesity and smoking. Lastly, we will briefly speculate about the future prospects of DNA methylation biomarkers, and possible ways to achieve them.
DNA 甲基化是一种表观遗传修饰，它与多种人类特征和疾病一直存在关联。由于 DNA 甲基化本质上具有动态性和潜在的可逆转性，可以反映环境暴露情况并预测疾病的发生，因此它作为一种潜在的疾病生物标志物引起了人们的兴趣。与转录组或蛋白质组模式相比，DNA 甲基化模式更为稳定，并且相对容易测量，可用于追踪不同环境和风险因素的暴露情况。重要的是，DNA 甲基化定量技术的成本效益不断提高，这加速了该领域的新研究，并推动了新型 DNA 甲基化生物标志物的发展。目前已经存在相当多的基于 DNA 甲基化的多种特征和疾病的预测因子。这些预测因子显示出比自我报告或测量的表型（如吸烟行为和体重指数）更准确的潜力，甚至可能具有在临床上应用的潜力。在这篇综述中，我们将首先讨论 DNA 甲基化生物标志物的一般优势和挑战。然后，我们将回顾在肥胖和吸烟这两种甲基化组表现出较为一致改变的人类特征中，DNA 甲基化生物标志物的现状和未来潜力。最后，我们将简要推测 DNA 甲基化生物标志物的未来前景，以及可能实现这些前景的方法。
