分析DNA甲基组在人类健康和疾病中的预测能力。

IF 3 4区 医学 Q2 GENETICS & HEREDITY
Paraskevi Christofidou, Christopher G Bell
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引用次数: 0

摘要

早期和准确的诊断可显著提高疾病存活的机会。DNA甲基化(5mC)是人类基因组中主要的DNA修饰,目前被认为是一种具有巨大临床潜力的生物标志物。这是由于它能够精确地描绘细胞类型,量化内部和外部暴露,以及跟踪衰老过程的时间和生物成分。在这里,我们调查了DNA甲基化作为性状和疾病的生物标志物和预测因子的现状。这包括表观基因组关联研究(EWAS)的发现,这些发现为甲基化风险评分(MRS)、EpiScore血浆蛋白水平长期估计值和机器学习(ML)衍生的DNA甲基化时钟提供了信息。这些都突出了可获得的外周血DNA甲基化作为替代测量的显着益处。然而,实时详细的DNA甲基化活检分析也有助于病理诊断。此外,展望未来,在这个多组学和生物库规模的时代,不断增加的样本量和数据集成的放大能力将使新的见解成为可能。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
The predictive power of profiling the DNA methylome in human health and disease.

Early and accurate diagnosis significantly improves the chances of disease survival. DNA methylation (5mC), the major DNA modification in the human genome, is now recognized as a biomarker of immense clinical potential. This is due to its ability to delineate precisely cell-type, quantitate both internal and external exposures, as well as tracking chronological and biological components of the aging process. Here, we survey the current state of DNA methylation as a biomarker and predictor of traits and disease. This includes Epigenome-wide association study (EWAS) findings that inform Methylation Risk Scores (MRS), EpiScore long-term estimators of plasma protein levels, and machine learning (ML) derived DNA methylation clocks. These all highlight the significant benefits of accessible peripheral blood DNA methylation as a surrogate measure. However, detailed DNA methylation biopsy analysis in real-time is also empowering pathological diagnosis. Furthermore, moving forward, in this multi-omic and biobank scale era, novel insights will be enabled by the amplified power of increasing sample sizes and data integration.

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来源期刊
Epigenomics
Epigenomics GENETICS & HEREDITY-
CiteScore
5.80
自引率
2.60%
发文量
95
审稿时长
>12 weeks
期刊介绍: Epigenomics provides the forum to address the rapidly progressing research developments in this ever-expanding field; to report on the major challenges ahead and critical advances that are propelling the science forward. The journal delivers this information in concise, at-a-glance article formats – invaluable to a time constrained community. Substantial developments in our current knowledge and understanding of genomics and epigenetics are constantly being made, yet this field is still in its infancy. Epigenomics provides a critical overview of the latest and most significant advances as they unfold and explores their potential application in the clinical setting.
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