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Research Quest on injury genetics, tendinopathy and ACL DNA

Research Quest on injury genetics, tendinopathy and ACL DNA
Top 10 Research Quests from Research Raconteur

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If you get tackled in rugby or fall off a horse - those are examples of external reasons for getting injured.

But this week we’ve been looking at the intrinsic factors that cause injuries and asking the question, could it be genetic?

Here are 3 studies on this topic that you might find interesting:


1) 2021 study by Magnusson et al.:

The field of injury genetics is growing at a rapid rate.

Last year in July, I lectured on exactly this topic at a genetic conference and anybody who saw my lecture knows that I am utterly fascinated by it.

The research is only 17 years old but growing at a rapid rate. Another new study released last year suggests genetic ACL predisposition might be as high as 69%.​

2) 2016 study by Kirk et al.:

Coming from a background in orthopaedic rehabilitation, I used to have patients whose knee pain would take months to resolve, and then others where after one session the pain disappeared.

With these one-session-wonder types, it was often the case that they were just stiff in their upper thigh. A bit of stretching and they were right as rain.

This 2016 paper suggests that there might be a genetic component involved.

A variation of the COL5A1 gene seems to contribute to around 30% greater levels of stiffness in the upper thigh.

If you’re not able to pull your heel to your bum in a thigh stretch, then maybe it’s your genes, or maybe it’s all that sitting we love to do.

3) 2017 study by Vaughn et al.:

Four researchers set out to decode tendinopathy DNA. They conducted a systematic review of 26 different trials, investigating 34 different genes. They found 13 genes that had shown some association to tendon pathology.

Out of those 13 genes, the authors were the most confident about 4 of them.

They were COL5A1 (a collagen gene), TNC (the first gene to be linked to tendon pathology back in 2005), MMP3 (involved in matrix organisation) and ESRRB (interestingly enough, an Estrogen receptor).


1) Magnusson K, Turkiewicz A, Hughes V, Frobell R, Englund M. High genetic contribution to anterior cruciate ligament rupture: Heritability ~69. Br J Sports Med. 2020 Dec 7:bjsports-2020-102392. doi: 10.1136/bjsports-2020-102392. Epub ahead of print. PMID: 33288618.

2) Kirk EA, Moore CW, Chater-Diehl EJ, Singh SM, Rice CL. Human COL5A1 polymorphisms and quadriceps muscle-tendon mechanical stiffness in vivo. Exp Physiol. 2016 Dec 1;101(12):1581-1592. doi: 10.1113/EP085974. Epub 2016 Nov 3. PMID: 27717059.

3) Vaughn NH, Stepanyan H, Gallo RA, Dhawan A. Genetic Factors in Tendon Injury: A Systematic Review of the Literature. Orthop J Sports Med. 2017 Aug 23;5(8):2325967117724416. doi: 10.1177/2325967117724416. PMID: 28856171; PMCID: PMC5571768.

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Written by Kyle van Heerden

Online Educator at Research Raconteur

Top 10 Research Quests from Research Raconteur

Are you ready to clinically conquer?

  • FREE Top 10 Research Quests ebook (as voted for by over 5,000 clinicians)

  • FREE infographical summaries on the latest
    clinical research

  • FREE membership to all future Research Quests

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