表观遗传学
表观基因组
疾病
全基因组关联研究
生物信息学
遗传关联
遗传倾向
个性化医疗
医学
精密医学
生物标志物
生物
遗传学
DNA甲基化
病理
单核苷酸多态性
基因型
基因表达
基因
标识
DOI:10.1016/j.cmet.2023.11.015
摘要
Summary
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.
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