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Epigenetic biomarkers for disease susceptibility and preventative medicine
Cell Metabolism ( IF 29.0 ) Pub Date : 2024-01-03 , DOI: 10.1016/j.cmet.2023.11.015
Michael K. Skinner

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.

中文翻译:

疾病易感性和预防医学的表观遗传生物标志物

疾病分子生物标志物的开发使得预防医学方法得以考虑。因此,治疗、治疗或临床管理可用于延缓或预防疾病的发展。基因突变作为生物标志物的问题在于全基因组关联研究 (GWAS) 的频率较低,通常最多只有 1% 的患者与该疾病的关联。相比之下,在全表观基因组关联研究 (EWAS) 中,表观遗传改变与超过 90%–95% 的病理个体存在高频关联。多种人类疾病已被证明具有疾病特异性并检测病理易感性的表观遗传生物标志物。本综述的重点是疾病易感性的表观遗传生物标志物,它与疾病病因或进展的表观遗传学的大量文献不同。疾病易感性的有效表观遗传生物标志物的开发将促进从反应医学到预防医学的范式转变。
更新日期:2024-01-03
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