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J Genet Genomics. 2018 Feb 20;45(2):87-97. doi: 10.1016/j.jgg.2018.02.003. Epub 2018 Feb 17.

Developing DNA methylation-based diagnostic biomarkers.

Author information

1
Department of Human Genetics, School of Medicine, Emory University, Atlanta, GA 30322, USA.
2
Department of Gastroenterological Surgery, The Second Hospital, Jilin University, Changchun 130041, China. Electronic address: wangxudong1971@126.com.
3
Department of Human Genetics, School of Medicine, Emory University, Atlanta, GA 30322, USA. Electronic address: peng.jin@emory.edu.

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:

Biomarker; Brain disorders; Cancer; DNA methylation; Epigenetics; Liquid biopsy; Molecular diagnosis

PMID:
29496486
PMCID:
PMC5857251
DOI:
10.1016/j.jgg.2018.02.003
[Indexed for MEDLINE]
Free PMC Article

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