Abstract
The methylation of CpG islands in gene promoters is a well-stablished epigenetic mechanism essential to mammalian development. During development, a dynamic process involving both de novo DNA methylation and demethylation in the genome affects the pattern of DNA methylation. This process results in differentiated cells with distinctive and stable DNA methylation signatures that regulate tissue-specific transcriptional programming of genes (1). Specific patterns of DNA methylation can therefore be explored as valuable biomarkers to stratify cell lineage and cell subsets in complex samples such as whole blood. DNA methylation markers that can be used to distinguish and quantify T cells, B cells, monocytes, eosinophils, basophils, neutrophils, and natural killer cells may have a broad clinical application. Leukocyte counts are usually determined based on morphological analysis, flow cytometric measurements, and immunophenotypic classification of lymphocyte subsets. New techniques based on DNA methylation signature may complement and help to overcome several limitations from conventional methods.
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