表观遗传生物标志物与早产。

IF 4.8 Q1 GENETICS & HEREDITY Environmental Epigenetics Pub Date : 2020-06-14 eCollection Date: 2020-01-01 DOI:10.1093/eep/dvaa005
Bongsoo Park, Rasheda Khanam, Vinesh Vinayachandran, Abdullah H Baqui, Stephanie J London, Shyam Biswal
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引用次数: 14

摘要

早产(PTB)是一项重大的公共卫生挑战,预测PTB的新颖、敏感的方法仍在不断发展。由于表观基因组标记与基因表达相比具有分子稳定性,因此正被探索作为PTB的生物标记物。与依赖突变或单核苷酸多态性的基于基因的诊断相比,这种方法也相对较新。表观基因组诊断的基本原理是,目标组织(如胎盘组织)中的表观遗传重编程可能被更容易获得的替代组织(如血液)捕获,使用生化表观基因组分析循环DNA,包括甲基化,组蛋白修饰,核小体定位和/或染色质可及性。基于表观基因组学的生物标志物可能对大多数与遗传变异或突变无关的ptb的早期识别具有很大的潜力。在这篇综述中,我们讨论了近年来在表观基因组分析的发展进展,重点是其潜在的探索与肺结核的关联和预测。我们还总结了在美国和全球进行的人群水平队列研究,这些研究为PTB的遗传和表观遗传标记的开发提供了机会。此外,我们总结了公开可用的表观基因组资源和已发表的PTB研究。我们特别关注正在进行的全基因组DNA甲基化和表观全基因组关联研究。最后,我们回顾了目前研究的局限性,建立一个全面的生物库的重要性,以及未来研究的可能方向,以确定有效的表观基因组生物标志物,以提高妊娠妇女和她们的婴儿的健康结局。
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Epigenetic biomarkers and preterm birth.

Preterm birth (PTB) is a major public health challenge, and novel, sensitive approaches to predict PTB are still evolving. Epigenomic markers are being explored as biomarkers of PTB because of their molecular stability compared to gene expression. This approach is also relatively new compared to gene-based diagnostics, which relies on mutations or single nucleotide polymorphisms. The fundamental principle of epigenome diagnostics is that epigenetic reprogramming in the target tissue (e.g. placental tissue) might be captured by more accessible surrogate tissue (e.g. blood) using biochemical epigenome assays on circulating DNA that incorporate methylation, histone modifications, nucleosome positioning, and/or chromatin accessibility. Epigenomic-based biomarkers may hold great potential for early identification of the majority of PTBs that are not associated with genetic variants or mutations. In this review, we discuss recent advances made in the development of epigenome assays focusing on its potential exploration for association and prediction of PTB. We also summarize population-level cohort studies conducted in the USA and globally that provide opportunities for genetic and epigenetic marker development for PTB. In addition, we summarize publicly available epigenome resources and published PTB studies. We particularly focus on ongoing genome-wide DNA methylation and epigenome-wide association studies. Finally, we review the limitations of current research, the importance of establishing a comprehensive biobank, and possible directions for future studies in identifying effective epigenome biomarkers to enhance health outcomes for pregnant women at risk of PTB and their infants.

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来源期刊
Environmental Epigenetics
Environmental Epigenetics GENETICS & HEREDITY-
CiteScore
6.50
自引率
5.30%
发文量
0
审稿时长
17 weeks
期刊最新文献
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