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Epigenetics as a unifying principle in the aetiology of complex traits and diseases

Abstract

Epigenetic modifications of DNA and histones might be crucial for understanding the molecular basis of complex phenotypes. One reason for this is that epigenetic factors are sometimes malleable and plastic enough to react to cues from the external and internal environments. Such induced epigenetic changes can be solidified and propagated during cell division, resulting in permanent maintenance of the acquired phenotype. In addition, the finding that there is partial epigenetic stability in somatic and germline cells allows insight into the molecular mechanisms of heritability. Epigenetics can provide a new framework for the search of aetiological factors in complex traits and diseases.

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Figure 1: Twin-based epigenetic heritability.
Figure 2: Epigenetic interpretation of cases of sporadic disease and familial disease.

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Acknowledgements

I thank A. Wong, I. Gottesman, A. Paterson and C. Ptak for editorial suggestions, A. Schumacher for figure design, and the reviewers for their comments. Work in my laboratory has been supported by the Canadian Institutes of Health Research (grants 199170 and 186007) and the US National Institutes of Health (grants MH074127, MH088413, DP3DK085698 and HG004535). I am Tapscott Chair in Schizophrenia Studies at the University of Toronto and a senior fellow of the Ontario Mental Health Foundation.

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Correspondence to Arturas Petronis.

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Petronis, A. Epigenetics as a unifying principle in the aetiology of complex traits and diseases. Nature 465, 721–727 (2010). https://doi.org/10.1038/nature09230

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