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Analytical Considerations for Epigenome-Wide Association Scans of Complex Traits

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Epigenetics and Complex Traits

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Abstract

Recent advances in molecular methods and next-generation sequencing technologies have allowed for the detection of epigenetic variation at an unprecedented level of resolution. With the availability of new genome-wide epigenetic assays, particularly for DNA methylation, epigenetic studies of human complex traits have moved towards epigenome-wide association scans (EWAS). Similar to genome-wide association scans (GWAS), EWAS aim to perform a genome-wide search for epigenetic variants that associate with complex phenotypes and have potential to identify novel genes and molecular pathways in common disease. However, unlike genetic variation, epigenetic variation can be dynamic, which has implications for EWAS methodology and design. This chapter discusses the analytical aspects of performing EWAS of DNA methylation changes in complex traits, as well as the potential to integrate genetic and epigenetic variation in the analysis of molecular mechanisms underlying complex phenotypes.

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Acknowledgments

I would like to acknowledge Pei-Chien Tsai’s contribution to Fig. 14.1.

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  1. Department of Twin Research and Genetic Epidemiology, King’s College, London, UK

    Jordana T. Bell

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Correspondence to Jordana T. Bell .

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  1. Departments of Obstetrics and Gynecology and Human Genetics, McGill University, Montreal, Canada

    Anna K. Naumova

  2. Lady Davis Institute for Medical Research Centre for Clinical Epidemiology, Jewish General Hospital, Montreal, Canada

    Celia M.T. Greenwood

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Bell, J.T. (2013). Analytical Considerations for Epigenome-Wide Association Scans of Complex Traits. In: Naumova, A., Greenwood, C. (eds) Epigenetics and Complex Traits. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-8078-5_14

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