Abstract
Purpose: Osteoarthritis (OA) is a complex degenerative joint disease. To promote the development of novel, efficient therapeutic approaches, it is first necessary to unravel the genomic architecture of osteoarthritis. Here, we investigate genome-wide DNA methylation from macroscopically intact (low-grade) and degraded (high-grade) osteoarthritis cartilage, as well as synovium tissue from a total of 98 knee osteoarthritis patients undergoing joint replacement surgery. We aimed to (1) characterize methylation markers of cartilage degeneration, (2) identify genotype-dependent methylation changes (mQTL effects), and (3) investigate causal effects of methylation loci on OA.
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