Genetic aspects of tendinopathy

Tendinopathy is characterised by a disorganised, haphazard healing response with no histological signs of inflammation. Research on tendon injuries is limited to the description of the condition and its management, and the pathogenesis is still ill defined. Together with known intrinsic and extrinsic factors, genetics may play a significant role in the aetiopathogenesis of tendinopathy. ABO and other closely linked genes, COL5A1, and tenascin-C have all been implicated in the aetiopathogenesis of tendinopathy. However, the precise role of these genes in causing or protecting individuals from developing tendinopathy is yet to be defined. An interaction between the various intrinsic and extrinsic factors with the genetic make-up of an individual may increase the likelihood of one individual developing tendinopathy over another. Tendinopathy may well be polygenic, involving complex interactions between multiple genes, and could possibly run in families. Further investigations should determine the exact role played by genetic influences in maintaining tendon homeostasis and pave the way for gene transfer therapy to be developed for the management of tendinopathies.