Human Epigenome Pilot Project

The Human Epigenome Consortium is a public/private collaboration that aims to identify and catalogue Methylation Variable Positions (MVPs) in the human genome. As a prelude to the full-scale Human Epigenome Project (HEP), we have recently completed a pilot study of the methylation patterns within the Major Histocompatibility Complex (MHC) - a region of chromosome 6 that is associated with more diseases than any other region in the human genome.

We have identified MVPs in the vicinity of the promoter and other relevant regions of approximately 150 loci within the MHC in tissues from a range of individuals. This will provide an unprecedented insight into the complex relationship between genetics and epigenetics that underlies both normal cellular homeostasis and disease states, in particular autoimmune diseases.

For the pilot project, we developed an integrated genomics-based technology platform. The pipeline involves the automated bisulphite treatment of DNA from minute tissue biopsies, gene-specific bisulphite PCR and large-scale sequencing of PCR amplicons. Analysis and quantification of methylation patterns is achieved by mass spectrometric and microarray assays.