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American Journal of Epidemiology Advance Access originally published online on January 12, 2009
American Journal of Epidemiology 2009 169(4):389-400; doi:10.1093/aje/kwn380
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American Journal of Epidemiology © The Author 2009. Published by the Johns Hopkins Bloomberg School of Public Health. All rights reserved. For permissions, please e-mail: journals.permissions@oxfordjournals.org.

Prospects for Epigenetic Epidemiology

Debra L. Foley, Jeffrey M. Craig, Ruth Morley, Craig J. Olsson, Terence Dwyer, Katherine Smith and Richard Saffery

Correspondence to Dr. Richard Saffery, Developmental Epigenetics, Murdoch Childrens Research Institute, Flemington Road, Melbourne, Victoria 3052, Australia (e-mail: richard.saffery{at}mcri.edu.au).

Received for publication May 16, 2008. Accepted for publication October 9, 2008.

Epigenetic modification can mediate environmental influences on gene expression and can modulate the disease risk associated with genetic variation. Epigenetic analysis therefore holds substantial promise for identifying mechanisms through which genetic and environmental factors jointly contribute to disease risk. The spatial and temporal variance in epigenetic profile is of particular relevance for developmental epidemiology and the study of aging, including the variable age at onset for many common diseases. This review serves as a general introduction to the topic by describing epigenetic mechanisms, with a focus on DNA methylation; genetic and environmental factors that influence DNA methylation; epigenetic influences on development, aging, and disease; and current methodology for measuring epigenetic profile. Methodological considerations for epidemiologic studies that seek to include epigenetic analysis are also discussed.

DNA methylation; environment; epigenesis, genetic; folic acid


Abbreviations: DNMT, DNA methyltransferases


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