Genome-scale approaches to the epigenetics of common human disease

Virchows Arch. 2010 Jan;456(1):13-21. doi: 10.1007/s00428-009-0847-2. Epub 2009 Oct 21.


Traditionally, the pathology of human disease has been focused on microscopic examination of affected tissues, chemical and biochemical analysis of biopsy samples, other available samples of convenience, such as blood, and noninvasive or invasive imaging of varying complexity, in order to classify disease and illuminate its mechanistic basis. The molecular age has complemented this armamentarium with gene expression arrays and selective analysis of individual genes. However, we are entering a new era of epigenomic profiling, i.e., genome-scale analysis of cell-heritable nonsequence genetic change, such as DNA methylation. The epigenome offers access to stable measurements of cellular state and to biobanked material for large-scale epidemiological studies. Some of these genome-scale technologies are beginning to be applied to create the new field of epigenetic epidemiology.

Publication types

  • Review

MeSH terms

  • Aging / genetics
  • Animals
  • Autistic Disorder / genetics
  • Bipolar Disorder / genetics
  • Colorectal Neoplasms / genetics
  • CpG Islands / genetics
  • DNA Methylation*
  • Epigenesis, Genetic*
  • Female
  • Genetic Diseases, Inborn / epidemiology
  • Genome, Human*
  • Genome-Wide Association Study*
  • Genomic Imprinting / genetics
  • Genomics / methods
  • Humans
  • Methyl-CpG-Binding Protein 2 / genetics
  • Neoplasms / genetics
  • Phenotype
  • Rett Syndrome / genetics


  • MECP2 protein, human
  • Methyl-CpG-Binding Protein 2