Developing DNA methylation-based diagnostic biomarkers

作     者：Hyerim Kim Xudong Wang Peng Jin 

作者机构：Department of Human Genetics School of Medicine Emory University Atlanta CA 30322 USA Department of Gastroenterological Surgery The Second Hospital Jilin University Changchun 130041 China 

出 版 物：《Journal of Genetics and Genomics》 (遗传学报（英文版）)

年 卷 期：2018年第45卷第2期

页      面：87-97页

核心收录：

学科分类：0710[理学-生物学] 100208[医学-临床检验诊断学] 1002[医学-临床医学] 1001[医学-基础医学(可授医学、理学学位)] 10[医学] 

基　　金：supported in part by NIH grants(NS051630  NS079625  MH102690 and NS097206 to P.J.) 

主　　题：DNA methylation Epigenetics Molecular diagnosis Biomarker Liquid biopsy Cancer Brain disorders 

摘      要：An emerging paradigm shift for disease diagnosis is to rely on molecular characterization beyond traditional clinical and symptom-based examinations. Although genetic alterations and transcription signature were first introduced as potential biomarkers, clinical implementations of these markers are limited due to low reproducibility and accuracy. Instead, epigenetic changes are considered as an alternative approach to disease diagnosis. Complex epigenetic regulation is required for normal biological functions and it has been shown that distinctive epigenetic disruptions could contribute to disease pathogenesis. Disease-specific epigenetic changes, especially DNA methylation, have been observed,suggesting its potential as disease biomarkers for diagnosis. In addition to specificity, the feasibility of detecting disease-associated methylation marks in the biological specimens collcted noninvasively,such as blood samples, has driven the clinical studies to validate disease-specific DNA methylation changes as a diagnostic biomarker. Here, we highlight the advantages of DNA methylation signature for diagnosis in different diseases and discuss the statistical and technical challenges to be overcome before clinical implementation.