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Molecular Medicine

, Volume 21, Issue 1, pp 400–409 | Cite as

Genetic Determinants of Epigenetic Patterns: Providing Insight into Disease

  • Emma Cazaly
  • Jac Charlesworth
  • Joanne L. Dickinson
  • Adele F. Holloway
Review Article

Abstract

The field of epigenetics and our understanding of the mechanisms that regulate the establishment, maintenance and heritability of epigenetic patterns continue to grow at a remarkable rate. This information is providing increased understanding of the role of epigenetic changes in disease, insight into the underlying causes of these epigenetic changes and revealing new avenues for therapeutic intervention. Epigenetic modifiers are increasingly being pursued as therapeutic targets in a range of diseases, with a number of agents targeting epigenetic modifications already proving effective in diseases such as cancer. Although it is well established that DNA mutations and aberrant expression of epigenetic modifiers play a key role in disease, attention is now turning to the interplay between genetic and epigenetic factors in complex disease etiology. The role of genetic variability in determining epigenetic profiles, which can then be modified by environmental and stochastic factors, is becoming more apparent. Understanding the interplay between genetic and epigenetic factors is likely to aid in identifying individuals most likely to benefit from epigenetic therapies. This goal is coming closer to realization because of continual advances in laboratory and statistical tools enabling improvements in the integration of genomic, epigenomic and phenotypic data.

Notes

Acknowledgments

The authors were supported by grants from the David Collins Leukaemia Foundation and The Cancer Council Tasmania. JL Dickinson is an Australian Research Council Future Fellow. E Cazaly was supported by a scholarship from the Royal Hobart Hospital Cancer Auxiliary.

The authors acknowledge the many researchers whose work has contributed to this field, but they are not specifically cited here because of space and referencing constraints.

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Authors and Affiliations

  • Emma Cazaly
    • 1
  • Jac Charlesworth
    • 1
  • Joanne L. Dickinson
    • 1
  • Adele F. Holloway
    • 2
  1. 1.Menzies Institute for Medical ResearchUniversity of TasmaniaHobartAustralia
  2. 2.School of MedicineUniversity of TasmaniaHobartAustralia

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