Osteoarthritis (OA) is a prevalent disease of articular joints and primarily characterized by
degradation and calcification of articular cartilage. Presently, no effective treatment other than pain relief
exists and patients ultimately need to undergo replacement surgery of the affected joint. During
disease progression articular chondrocytes, the single cell type present in articular cartilage, show altered
transcriptional profiles and undergo phenotypic changes that resemble the terminal differentiation
route apparent in growth plate chondrocytes. Hence, given its prominent function in both regulating
gene expression and maintaining cellular phenotypes, DNA methylation of CpG dinucleotides is
intensively studied in the context of OA. An increasing number of studies have been published that
employed a targeted approach on genes known to play a role in OA pathophysiology. As of such, it has become clear that
OA responsive DNA methylation changes seem to mediate disease associated aberrant gene expression. Furthermore, established
OA susceptibility alleles such as GDF5 and DIO2 appear to confer OA risk via DNA methylation and respective
pathophysiological expression changes. In more recent years, genome wide profiling of DNA methylation in OA affected
articular cartilage has emerged as a powerful tool to address the epigenetic changes in their entirety, which has resulted in
the identification of putative patient subgroups as well as generic OA associated pathways.
Keywords: Articular cartilage, Data integration, DNA methylation, Osteoarthritis, Transcriptomics.
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