Epidemiology seeks to identify risk factors for disease and to quantify the association between environmental and lifestyle factors and disease frequency in human populations. Epigenetics may provide mechanistic clues on a cellular and molecular level behind epidemiologic links. Combining these two fields along with collecting relevant biospecimens will aid in understanding the benefits and the limitations of genome-wide and gene-specific approaches in decoding the epigenome and its functional relevance. This chapter addresses the importance of the experimental design, optimal preparation of biological samples in population-based studies, provide an overview of the available techniques to analyze DNA methylation, gene expression and histone modification, and highlight possible pitfalls of these approaches.
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