Genetic risk factors for musculoskeletal soft tissue injuries

Med Sport Sci. 2009:54:136-149. doi: 10.1159/000235701. Epub 2009 Aug 17.


Acute and overuse musculoskeletal soft tissues injuries are common as a result of participating in specific physical or workplace activities. Multiple risk factors, including genetic factors, are implicated in the aetiology of these injuries. Common musculoskeletal soft tissue injuries for which a genetic contribution has been proposed include the Achilles tendon in the heel, the rotator cuff tendons in the shoulder and the cruciate ligaments in the knee. Recent developments in the identification of genetic risk factors for tendon and ligament injuries will be reviewed. Sequence variants within genes that encode for several tendon and/or ligament extracellular matrix proteins have been shown to be associated with specific musculoskeletal soft tissues injuries. Variants within the TNC, COL5A1 and MMP3 genes co-segregate with chronic Achilles tendinopathy. The variant within the TNC gene also appears to co-segregate with Achilles tendon ruptures, while sequence variants within the COL1A1 and COL5A1 genes have been shown to be associated with cruciate ligament ruptures and/or shoulder dislocations. Whether these variants are directly involved in the development of these musculoskeletal soft tissue abnormalities or in strong linkage disequilibrium with actual disease-causing loci remains to be established. We proposed that genetic risk factors will in the future be included in multifactorial models developed to understand the molecular mechanisms that cause musculoskeletal soft tissue injuries or related pathology. Clinicians could eventually use these models to develop personalised training programmes to reduce the risk of injury as well as to develop treatment and rehabilitation regimens for the injured individual.

MeSH terms

  • ADAM Proteins / genetics
  • Chromosomes, Human, Pair 9
  • Collagen / genetics
  • Collagen Type I / genetics
  • Collagen Type I, alpha 1 Chain
  • Genetic Predisposition to Disease
  • Humans
  • Ligaments / injuries
  • Ligaments / physiology
  • Matrix Metalloproteinases / genetics
  • Mutation
  • Polymorphism, Single Nucleotide
  • Risk Factors
  • Soft Tissue Injuries / genetics*
  • Tenascin / genetics
  • Tendon Injuries / genetics*
  • Tendons / physiology


  • Collagen Type I
  • Collagen Type I, alpha 1 Chain
  • Tenascin
  • Collagen
  • ADAM Proteins
  • Matrix Metalloproteinases