The potential role of epigenomic dysregulation in complex human disease

Eli Hatchwell, John M. Greally

Research output: Contribution to journalReview articlepeer-review

85 Scopus citations


One of the major challenges in genetics today is to understand the causes of complex genetic diseases. The genes involved in these disorders are thought to interact with poorly-defined environmental factors to exert their phenotypic effects. An emerging view is that epigenetics also plays a role in complex diseases. Here we review the evidence that epigenetic regulatory mediators can be influenced by several environmental factors, that variability of the epigenome can cause variation in phenotypes, and that epigenetic dysregulation can be heritable across generations. Assays that map epigenetic regulatory patterns across the whole genome have recently become available, which enable us to explore the epigenomic influences on complex diseases, thus offering new avenues for diagnostic biomarker development and therapeutic strategies.

Original languageEnglish (US)
Pages (from-to)588-595
Number of pages8
JournalTrends in Genetics
Issue number11
StatePublished - Nov 2007

ASJC Scopus subject areas

  • Genetics


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