Abstract

Abstract Epigenetics is the study of heritable changes in gene function unexplained by changes in DNA sequence, and is one of the modes by which environment is thought to interact with genetics. As such, epigenetic alterations constitute an important type of genome-scale variable mediating between environment and disease, and present unique opportunities for conducting epidemiological research. The most commonly studied type of epigenetic alteration in population studies is cytosine methylation, which is a well recognized mechanism of gene silencing that often becomes dysregulated in cancer, and is also thought to be implicated in other diseases. Arrays are now being used to study DNA methylation at a large number of loci; for example, the older Illumina Infinium platform assesses DNA methylation at 27,000 loci, while the newer Infinium array measures DNA methylation at over 470,000 sites. In this talk, we introduce the biology of DNA methylation and survey recent methods for statistical analysis of DNA methylation array data. Finally, we introduce a novel use of DNA methylation arrays to interrogate the distribution of white blood cells, an advancement in the use of DNA methylation to study immunological response as a function of disease status. Citation Information: Cancer Prev Res 2011;4(10 Suppl):ED03-03.

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