Epigenetic DNA Methylation Signatures Associated with the Severity of Paget’s disease of bone

This pioneering study investigated associations between DNA methylation levels and PDB severity. 100 methylation sites associated with PDB disease severity were identified, while important molecular pathways associated with disease progression were also disclosed. Importantly, DNA methylation markers to predict disease severity with high accuracy were also identified but require further validations. The study was conducted in 232 cases with clinical and radiological evidence of PDB. DNA methylation profiling was determined using Illumina Infinium 450k Human Methylation array. The severity of PDB disease was defined as a composite score and a multivariate predictor of severity of PDB was devised based on the identification of a panel of differentially methylated loci in PDB patients.