Abstract
Osteoarthritis (OA) is the most frequent rheumatic disease and is characterized by a lack of efficient treatment. We usually separate common OA, which is a polygenic disease influenced by environmental factors, such as ageing, mechanical stress, obesity and traumatism, from monogenic-derived OA complicating genetic chondrodysplasia caused by mutations of extracellular matrix genes (type II collagen, COMP). In common OA, several genes of susceptibility have been associated with the disease through their polymorphisms and are involved in cellular differentiation, chondrocyte hypertrophy, skeletal development, chondrocyte apoptosis, cartilage metabolism, synovial inflammation and subchondral bone physiology ( DIO2, GDF5, PTGS2, DVWA, FZRP, ASPN, CALM1 et GPR22). Genetic polymorphisms have also an effect on pain level, as well as on failure of arthroplasty. Limitations of genetic studies in common OA are explained by the disease itself because of the use of several definitions to define OA (clinical, radiological or joint replacement) and ethnic heterogeneity in allelic frequencies. Some notions on the role of epigenetic in OA will be highlighted in this review too.
Published Version
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