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Nat Rev Genet. 2013 Aug;14(8):585-94. doi: 10.1038/nrg3405. Epub 2013 Jul 2.

From promises to practical strategies in epigenetic epidemiology.

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University of Exeter Medical School, Exeter University, St Luke's Campus, Magdalen Street, Exeter EX1 2LU, UK.


The epigenome has been heralded as a key 'missing piece' of the aetiological puzzle for complex phenotypes across the biomedical sciences. The standard research approaches developed for genetic epidemiology, however, are not necessarily appropriate for epigenetic studies of common disease. Here, we discuss the optimal execution of population-based studies of epigenetic variation, which will contribute to the emerging field of 'epigenetic epidemiology' and emphasize the importance of establishing a causal role in pathology for disease-associated epigenetic changes. We propose that improved understanding of the molecular mechanisms underlying human health and disease are best achieved through carrying out studies of epigenetics in populations as a part of an integrated functional genomics strategy.

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