Genome-wide identification of inter-individually variable DNA methylation sites improves the efficacy of epigenetic association studies

Abstract

Epigenomics: Finding DNA modifications that predict disease Patterns of chemical modifications on DNA can predict the risk of certain diseases, but the challenge is knowing where to look for them. Atsushi Shimizu from Iwate Medical University in Japan and his colleagues determined the location of these modifications, methyl groups added to DNA’s cytosine bases, in over hundred healthy people and found two million regions that vary widely between individuals. They used previous data to show that these regions are far more likely to change during the course of disease than genomic loci that are unchanged in all subjects. Current methods to look for disease-specific methylation changes can only profile at most 20% of the genome and Shimizu’s work will help focus on the 20% that matter for identifying disease risk and lead to better diagnosis and prognosis.