Center for Reproductive Biology, School of Biological Sciences, Washington State University, Pullman, WA 99164-4236, USA.
Cell Metab. 2024 Feb 6;36(2):263-277. doi: 10.1016/j.cmet.2023.11.015. Epub 2024 Jan 3.
The development of molecular biomarkers for disease makes it possible for preventative medicine approaches to be considered. Therefore, therapeutics, treatments, or clinical management can be used to delay or prevent disease development. The problem with genetic mutations as biomarkers is the low frequency with genome-wide association studies (GWASs), generally at best a 1% association of the patients with the disease. In contrast, epigenetic alterations have a high-frequency association of greater than 90%-95% of individuals with pathology in epigenome-wide association studies (EWASs). A wide variety of human diseases have been shown to have epigenetic biomarkers that are disease specific and that detect pathology susceptibility. This review is focused on the epigenetic biomarkers for disease susceptibility, and it distinct from the large literature on epigenetics of disease etiology or progression. The development of efficient epigenetic biomarkers for disease susceptibility will facilitate a paradigm shift from reactionary medicine to preventative medicine.
疾病分子生物标志物的发展使得预防性医学方法成为可能。因此,可以使用治疗、处理或临床管理来延迟或预防疾病的发展。作为生物标志物的基因突变存在一个问题,即全基因组关联研究(GWAS)的频率较低,最好是将 1%的患者与疾病相关联。相比之下,表观遗传改变在全基因组关联研究(EWAS)中与病理学的关联频率更高,超过 90%-95%的个体。已经证明,多种人类疾病都有特定于疾病的表观遗传生物标志物,可检测疾病易感性。这篇综述主要关注疾病易感性的表观遗传生物标志物,与疾病病因或进展的大量表观遗传学文献不同。开发有效的疾病易感性表观遗传生物标志物将促进从反应性医学向预防性医学的范式转变。