Open AccessClinical value of DNA methylation markers in autoimmune rheumatic diseases
Author(s) -
Esteban Ballestar,
Amr H. Sawalha,
Qianjin Lu
Publication year - 2020
Publication title -
nature reviews. rheumatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.683
H-Index - 137
eISSN - 1759-4804
pISSN - 1759-4790
DOI - 10.1038/s41584-020-0470-9
Subject(s) - dna methylation , epigenetics , methylation , medicine , dna , epigenomics , immunology , genetics , bioinformatics , gene , biology , gene expression
Methylation of cytosine residues in DNA, the best studied epigenetic modification, is associated with gene transcription and nuclear organization, and ultimately the function of a cell. DNA methylation can be influenced by various factors, including changes in neighbouring genomic sites such as those induced by transcription factor binding. The DNA methylation profiles in relevant cell types are altered in most human diseases compared with the healthy state. Given the physical stability of DNA and methylated DNA compared with other epigenetic modifications, DNA methylation is an ideal marker for clinical purposes. However, few DNA methylation-based markers have made it into clinical practice, with the notable exception of some markers used in the field of oncology. Autoimmune rheumatic diseases are genetically complex entities that can vary widely in terms of prognosis, subtypes, progression and treatment responses. Increasing reports showing strong links between DNA methylation profiles and different clinical outcomes and other clinical aspects in autoimmune rheumatic diseases reinforce the usefulness of DNA methylation profiles as novel clinical markers. In this Review, we provide an updated discussion on DNA methylation alterations in autoimmune rheumatic diseases and the advantages and disadvantages of using these markers in clinical practice.