Know Your Genes: MMP3 – “The Risk of Injury Gene”

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The Matrix Metalloproteinase 3 (MMP3) gene is associated with the synthesis of matrix metalloproteinase 3 (also called Stromelysin-1), an enzyme which is associated with the breakdown of extra cellular matrix during the normal physiological process. MMP3 is required to maintain Extra Cellular Matrix (ECM) homeostasis and it contributes to the material integrity, as well as the mechanical properties of tendons. An elevated expression of the MMP3 gene has been shown to be associated with increased degeneration of the matrix, resulting in an imbalance, with a greater rate of degradation when compared to the synthesis.

There are two single nucleotide polymorphisms associated with this gene, rs679620 and rs3025058. People with the G variant (rs679620) of this gene are shown to be associated with increased level of MMP3 expression. Variants of the gene are shown to be associated with changes in the extracellular matrix which affects the risk of muscle injury and the wound healing.

Does your 23andme, Ancestry DNA, FTDNA raw data have MMP3 gene variant information?

CHIP Version MMP3 SNPs
23andMe (Use your 23andme raw data to know your MMP3 Variant)
v1 23andme Present
v2 23andme Present
v3 23andme Present
v4 23andme Present
V5 23andme (current chip) Present
AncestryDNA  (Use your ancestry DNA raw data to know your MMP3 Variant)
v1 ancestry DNA Present
V2 ancestry DNA (current chip) Present
Family Tree DNA  (Use your FTDNA raw data to know your MMP3 Variant)
OmniExpress microarray chip Present

Association with Muscle Injury:

The Achilles tendon is the largest tendon in the body, connecting the heel bone to the calf muscle. It is used while walking, jumping or running. An injury in the Achilles tendon, called Achilles tendinopathy, can be painful and is a big hindrance to athletes.  A study conducted on South African athletes showed that the two SNPs G variant (rs679620) and 5A variant (rs3025058) were associated with Achilles tendinopathy. In another study conducted on Caucasians, people with the G variant (rs679620) were shown to be significantly associated with an increased risk for Achilles tendinopathy. In another study that analyzed the influence of MMP3 gene on Achilles t

endon pathology, the G variant of the gene was found to be over represented in people with Achilles tendon rupture. In a study conducted on people with anterior cruciate ligament injuries, people with the 5A variant were shown to be overrepresented.

 

Genotype

(rs679620)

Phenotype

Recommendation

AA

[Advantage] More likely to have lower level of MMP3 enzyme

[Advantage] Less likely to develop Achilles tendinopathy

[Limitation] Likely to have higher risk for post operative stiffness

  • There is low risk of injury, which would allow active participation in various sports, provided other genetic factors also indicate a low risk.
AG

Moderate stiffness on rotator cuff injury repair

  • There should be increased period of rest between training sessions to lower risk of injury
GG

[Limitation]More likely to have higher level of MMP3 enzyme

[Limitation] 2.5 times more likely to develop Achilles tendinopathy than people with the A variant

[Advantage] Likely to have lower risk of post operative stiffness

 

References:

  1. https://www.ncbi.nlm.nih.gov/pubmed/?term=27211292
  2. http://bjsm.bmj.com/content/43/7/514
  3. https://benthamopen.com/contents/pdf/TOSMJ/TOSMJ-6-8.pdf
  4. http://www.gonidio.com/eng_sport_2_10_2013.pdf
  5. http://marker.to/gbEsPo
  6. https://www.ncbi.nlm.nih.gov/pubmed/?term=26191285
  7. https://www.ncbi.nlm.nih.gov/pubmed/?term=27211292
  8. http://ifk-kliniken.orthocenter.se/documents/10.1007_s00167-016-4081-6.pdf
  9. http://www.pilarmartinescudero.es/dic13/The%20genetics%20of%20sports%20injuries%20and%20athletic%20perfomance.pdf
  10. http://ijcep.com/files/ijcep0043300.pdf
  11. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4397992/

Nutrigenetics, fitness genetics, health genetics are all nascent but rapidly growing areas within human genetics. The information provided herein is based on preliminary scientific studies and it is to be read and understood in that context.”

Click here to upload your raw data

23andMe, Ancestry DNA, FTDNA and several others

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