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The complexity of epigenetic diseases
Author(s) -
Brazel Ailbhe Jane,
Vernimmen Douglas
Publication year - 2016
Publication title -
the journal of pathology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.964
H-Index - 184
eISSN - 1096-9896
pISSN - 0022-3417
DOI - 10.1002/path.4647
Subject(s) - epigenetics , epigenome , genome wide association study , biology , disease , epigenesis , enhancer , genetics , genetic association , computational biology , bioinformatics , dna methylation , medicine , gene , single nucleotide polymorphism , pathology , transcription factor , genotype , gene expression
Over the past 30 years, a plethora of pathogenic mutations affecting enhancer regions and epigenetic regulators have been identified. Coupled with more recent genome‐wide association studies ( GWAS ) and epigenome‐wide association studies ( EWAS ) implicating major roles for regulatory mutations in disease, it is clear that epigenetic mechanisms represent important biomarkers for disease development and perhaps even therapeutic targets. Here, we discuss the diversity of disease‐causing mutations in enhancers and epigenetic regulators, with a particular focus on cancer. © 2015 The Authors. The Journal of Pathology published by John Wiley & Sons Ltd on behalf of Pathological Society of Great Britain and Ireland.