Xudong Wang
Peng Jin
aDepartment of Human Genetics, School of Medicine, Emory University, Atlanta, GA 30322, USA
bDepartment of Gastroenterological Surgery, The Second Hospital, Jilin University, Changchun 130041, China
More InformationCorresponding author: E-mail address: wangxudong1971@126.com (Xudong Wang);E-mail address: peng.jin@emory.edu (Peng Jin)
Received Date: 2017-12-25
Accepted Date:2018-02-12
Rev Recd Date:2018-01-29
Available Online: 2018-02-17 Publish Date:2018-02-20
Abstract
Abstract
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 collected 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.Keywords: DNA methylation,
Epigenetics,
Molecular diagnosis,
Biomarker,
Liquid biopsy,
Cancer,
Brain disorders
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