Researchers at Baylor College of Medicine and Texas Children's Hospital published today in Genome Biology what they are calling a "treasure map" aimed at accelerating research in epigenetics and human disease. According to Robert A. Waterland, senior author on the paper, his team has identified special regions of the genome where a blood sample can be used to infer epigenetic regulation throughout the body, allowing scientists to test for epigenetic causes of disease.
To do this, they focused on the most stable form of epigenetic regulation—DNA methylation. To identify genomic regions in which DNA methylation differs between people but is consistent across different tissues, they profiled DNA methylation throughout the genome in three tissues (thyroid, heart and brain) from each of 10 cadavers. "Since these tissues each represent a different layer of the early embryo, we're essentially going back in time to events that occurred during early embryonic development," Waterland said. "To map DNA methylation we converted methylation information into a genetic signal, then sequenced the genomes."
The nearly 10,000 regions the researchers mapped out, called correlated regions of systemic interindividual variation (CoRSIVs), comprise a previously unrecognized level of molecular individuality in humans.
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"Recent studies are already showing that methylation at these regions is associated with a range of human diseases including obesity, cancer, autism, Alzheimer's disease, and cleft palate," said Cristian Coarfa, co-leader of the project
Waterland believes these findings will transform the study of epigenetics and disease, as researchers will now know where in the genome to look. "Because epigenetic marking has the power to stably silence or stably activate genes, any disease that has a genetic basis could equally likely have an epigenetic basis," Waterland said. "There is incredible potential for us to understand disease processes from an epigenetic perspective. CoRSIVs are the entryway to that."