Abstract

Purpose: Osteoarthritis (OA), the most common chronic joint disease worldwide, is characterized by progressive damage to the articular cartilage, increased joint-associated bone remodelling, and synovial inflammation. Current OA treatments are limited to pain relief, physiotherapy or replacement surgeries in severe cases, yet disease-modifying drugs are lacking. A genome-wide association study (GWAS) revealed a genetic association between polymorphisms in the DOT1L gene and OA. The Disruptor of telomeric silencing 1-like (DOT1L) gene encodes a unique histone methyltransferase that methylates Lysine 79 of Histone H3 (H3K79).

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