Which genes may be involved in the etiology of osteoarthritis?

Updated: Jun 10, 2020
  • Author: Carlos J Lozada, MD; Chief Editor: Herbert S Diamond, MD  more...
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Answer

Osteoarthritis susceptibility genes (eg, ADAM12, CLIP, COL11A2, IL10, MMP3) have also been found to have differential methylation. Jefferies et al reports that hypomethylation of FURIN, which encodes a proprotein convertase, processes several ADAMTS molecules involved in osteoarthritic collagen degradation. Differential methylation among osteoarthritis susceptibility genes has been proposed as an alternative method for disruption of normal gene activity.

Additionally, Jefferies et al found evidence for hypermethylation and reduced expression of the type XI collagen gene COL11A2. Mutations involving COL11A2 have been associated with severe and early-onset osteoarthritis. Analysis by this goup has identified pathways enriched with "differentially methylated genes" that are effectors and upstream regulators seen in osteoarthritis linked with TGFB1 and ERG. [52]


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