A new study, published in PLOS Genetics, reveals that the associations found between epigenetic patterns and levels of protein biomarkers are likely to reflect the underlying pattern of genetic variants, specific environmental exposures or represent secondary effects following the disease pathogenesis.
The investigation, led by Åsa Johansson (Uppsala University/SciLifeLab), combined data on e.g. DNA methylation levels, an epigenetic feature, with measurements of protein biomarkers for cancer, inflammation and cardiovascular disease. The data demonstrates associations between protein biomarker and DNA methylation levels at numerous places in the genome. However, the relationships could not be established as causative, but are rather likely to reflect the underlying pattern of genetic variants, exposure to certain environmental factors or represent secondary effects of the development of the disease.