Polymorphisms within
the COL5A1 3’- UTR that alters mRNA
structure and the MIR608 gene are
associated with Achilles Tendinopathy

Y., Laguette MJ., Prince S., Collins M. Annals of Human Genetics. 2013; 1-11

Take Home Message:
Chronic Achilles tendinopathy is related to variations of genes that may
influence tendon development and composition.

of us have been taught that repetitive overuse may lead to changes in tendon
structure and composition (tendon degeneration). But, we have also seen articles on SMR that suggest
Achilles tendinopathy may be related to genetic variations (polymorphisms),
which may contribute to different tendon structure or composition. If we can
confidently identify which variations increase the risk of tendinopathy then
this may allow us identify high-risk patients that would benefit from overuse-injury
prevention programs. Therefore, the purpose of this study was to expand on
prior research and determine if 4 genetic variations were related to chronic
Achilles tendinopathy. The authors extracted DNA and genotyped 3 variations within a gene for
a type of collagen (COL5A1 gene) as
well as a variation in a gene for a protein that regulates collagen production
(MIR608 gene). The study included 342
asymptomatic control participants and 160 participants diagnosed with chronic
Achilles tendinopathy. all 4 variations. The authors also
determined that genetic variations within the region of interest on the
collagen gene could produce significant structural changes to proteins
associated with its gene expression.

study introduces 3 more polymorphisms within this collagen gene that are
associated with tendinopathies. Collagen exists in every musculoskeletal
tissue; therefore if these polymorphisms could affect the Achilles tendon they
could also be associated with other tendon alterations. Previously, some of these
polymorphisms were associated with mechanically weak tendons. This suggests
that these variations influence collagen assembly (structural strength) during development,
which may later influence an individual’s susceptibility to chronic
tendinopathies. This may also be the case for variations in the MIR608 gene since this gene aids in the
production and assembly of collagen within tendon. Finally, the authors found a
gene-gene interaction, which suggests that having variations in both genes could
affect the structural integrity of the tendon, possibly even more so than
having just one gene affected Although this study found an association between
several polymorphisms and chronic Achilles tendinopathy, there have been many
studies and several other genes found to have an association with chronic
Achilles tendinopathy. Therefore, this injury is multifactorial and polygeneic
(many genes interacting) and needs more research to investigate the risk
associated with these polymorphisms. Ultimately, these genetic variations could
also alter how tendons heal following the injury. Therefore, it would be
advantageous to determine if these genetic risk factors can help us implement
better individualized rehabilitation programs. Then, we can prescreen athletes
for these polymorphisms and tailor the rehab specifically knowing how their
tissue healing is affected. Eventually, these genetics studies may lay the
foundation for an era when we can identify patients that warrant extra injury
prevention procedures or need modified rehabilitation programs. Do you see the
same patients with tendonitis in different locations? 

by: Jane McDevitt MS, ATC, CSCS


Abrahams Y, Laguette MJ, Prince S, & Collins M (2013). Polymorphisms within the COL5A1 3′-UTR That Alters mRNA Structure and the MIR608 Gene are Associated with Achilles Tendinopathy. Annals of Human Genetics PMID: 23347277