What is it?
A non-diagnostic DNA test which consists of eight DNA sequence variants within five clinically useful genes that are associated with altering the risk
of sustaining common tendon and ligament injuries examples including chronic Achilles tendinopathy and anterior cruciate ligament ruptures. There is no
single cause for these tendon and ligament injuries. Instead, combinations of environmental and inherent factors, including genetic sequences, work
together in a poorly understood manner to cause an injury.
This genetic test is performed in conjunction with your physical activity history and a medical examination by your health care professional. The
results of the genetic test are interpreted together with clinical indicators and lifestyle factors to identify an increased risk for Achilles tendon
injuries in the heel or anterior cruciate ligament (ACL) tears in the knee.
When do I recommend it?
If you are a physically active and you would like to know more about your genetic risk of sustaining an injury to your Achilles tendon in the heel or
tearing an anterior cruciate ligament (ACL) in the knee. Although you are not able to alter your genetic profile, you would be able to alter other risk
factors to reduce the risk of sustaining either an Achilles tendon or ACL injury.
What are its benefits?
The gene variations included in the Sports Injury Genescreen are not deterministic by themselves in the development of Achilles tendon or ACL
injuries. These DNA sequences have the potential to increase the risk imposed by environmental parameters, such as the type and level of physical
activity you are participating in together with other inherent factors , such as body size and sex that may lead to an injury. Identification of
genetic and other risk factors associated with an increase risk of injury susceptibility, would allow for an improved intervention and or management
program by the health practitioner. Knowledge that a genetic variant may have little effect in a low-risk environment but has the potential to increase
the likelihood of injury in a high-risk environment empowers individuals to take responsibility for their injury prevention by reducing their exposure
to modifiable risk factors.
Ideally the Sports Injury Genescreen would allow individuals, especially within the sporting arena, to be scored as to their relative risk of
sustaining tendon or ligament injuries. This would allow preventative programmes to be instituted for those at particular risk thereby optimizing
sporting achievement while minimizing injury risk.
Are there any risks?
There are important medical ethical issues that need to be considered when using the Sports Injury Genescreen. This DNA test is NOT diagnostic in
nature and only identifies potential risk for injury. There is no guarantee that individuals who according to the genetic screen are at low risk will
not develop an injury. Conversely, there is also no guarantee that those who are at high-risk will be injured if they do not reduce their injury risk
profile. Problems will arise if individuals are selected for, or more importantly denied, sporting opportunities based on such data.
Physically active individuals are at increased risk for tendon and ligament injuries as a result of training and/or competition. There is no single
factor that causes tendon or ligament injuries. Instead these injuries are caused by a poorly understood complex interaction of multiple environmental
and inherent factors, including a familial predisposition. More recently, several functional genetic variants have been shown to alter the risk of
overuse injuries of the Achilles tendon in the heel or tearing the anterior cruciate ligament (ACL) in the knee. None of the identified genetic and
other inherent risk factors independently cause Achilles tendon or ACL injuries. These factors merely modulate or contribute to the risk of sustaining
these injuries. Genetically predisposed athletes need to be exposed to the appropriate environmental factors in order for the tissue to become injured.
Any genetic test for Achilles tendon or ACL injuries can only be used in conjunction with other factors to determine risk for injury. Once at risk
individuals have been identified using non-modifiable (an example being genetic factors) and modifiable risk factors (an example being training
factors), athletes, coaches and clinicians can potentially alter the modifiable risk factors in an attempt to reduce the overall risk of injury.
1. Mokone, G. G., Schwellnus, M. P., Noakes, T. D., & Collins, M. (2006). The COL5A1 gene and Achilles tendon pathology. Scandinavian Journal of Medicine & Science in Sports, 16(1), 19-26.
2. Khoschnau, S., Melhus, H., Jacobson, A., Rahme, H., Bengtsson, H., Ribom, E., Grundberg, E., et al. (2008). Type I collagen alpha1 Sp1
polymorphism and the risk of cruciate ligament ruptures or shoulder dislocations. The American Journal of Sports Medicine, 36(12),
3. September, A. V., Cook, J., Handley, C. J., Van Der Merwe, L., Schwellnus, M. P., & Collins, M. (2009). Variants within the COL5A1 gene are
associated with Achilles tendinopathy in two populations. British Journal of Sports Medicine, 43(5), 357-365.
4. Posthumus, M., September, A. V., Keegan, M., O'cuinneagain, D., Van Der Merwe, W., Schwellnus, M. P., & Collins, M. (2009). Genetic risk
factors for anterior cruciate ligament ruptures: COL1A1 gene variant. British Journal of Sports Medicine, 43(5), 352-356.
5. Posthumus, M., September, A. V., O'cuinneagain, D., van der Merwe, W., Schwellnus, M. P., & Collins, M. (2009). The COL5A1 gene is associated
with increased risk of anterior cruciate ligament ruptures in female participants. The American Journal of Sports Medicine, 37(11),
6. Collins, M. (2010). Genetic risk factors for soft-tissue injuries 101: a practical summary to help clinicians understand the role of genetics and
“personalised medicine.” British Journal of Sports Medicine, 44(13), 915-917.
7. Collins, M., Posthumus, M., & Schwellnus, M. P. (2010). The COL1A1 gene and acute soft tissue ruptures. British Journal of Sports Medicine,
8. Posthumus, M., Collins, M., Cook, J., Handley, C. J., Ribbans, W. J., Smith, R. K. W., Schwellnus, M. P., et al. (2010). Components of the
transforming growth factor-beta family and the pathogenesis of human Achilles tendon pathology-a genetic association study. Rheumatology, 49(11),
9. Laguette, M.-J., Abrahams, Y., Prince, S., & Collins, M. (2011). Sequence variants within the 3'-UTR of the COL5A1 gene alters mRNA
stability: Implications for musculoskeletal soft tissue injuries. Matrix biology, 30(5-6), 338-345.
10. Posthumus, M., Collins, M., September, A. V., & Schwellnus, M. P. (2011). The intrinsic risk factors for ACL ruptures: an evidence-based
review. The Physician and sportsmedicine, 39(1), 62-73.
THE FOLLOWING PATENTS WERE FILED BY THE SOUTH AFRICAN MEDICAL RESEARCH COUNCIL THAT SUPPORTED THE DEVELOPMENT OF THE SPORT INJURY GENESREEN:
Collins M, Schwellnus MP, September AV. Molecular Markers. South Africa. 2008/05443, 2008.
Collins M, Raleigh SM, Ribbans WJ, Schwellnus MP, Smith RKW. Genentic Risk Factors for Tendon and Ligament Injuries. South Africa.
Collins M, Raleigh SM, Ribbans WJ, Schwellnus MP, Smith RKW. Genentic Risk Factors for Tendon and Ligament Injuries. United States. 13/127,668,
Collins M, Raleigh SM, Ribbans WJ, Schwellnus MP, Smith RKW. Genentic Risk Factors for Tendon and Ligament Injuries. Europe. 09824482.5, 2011.
Collins M, Raleigh SM, Ribbans WJ, Schwellnus MP, Smith RKW. Genentic Risk Factors for Tendon and Ligament Injuries. Australia. 2009312451, 2011.
Collins M, September AV. Oligonucleotides and methods for determining a predisposition to soft tissue injuries. South Africa. ZAPPAx2012/01, 2011.
THE ABOVE INFORMATION WAS COMPILED BY:
Malcolm Collins, BSc (Hons), PhD, FECSS Associate Professor and Chief Specialist Scientist MRC/UCT Research Unit for Exercise Science and Sports
Medicine (ESSM) South African Medical Research Council and the Department of Human Biology, University of Cape Town
Dr Alison September, MSc(Med), PhD Senior Research Officer MRC/UCT Research Unit for Exercise Science and Sports Medicine (ESSM) Department of
Human Biology, University of Cape Town