The Peroxisome Proliferator- Activated Receptor (PPARA) gene is associated with the synthesis of Peroxisome Proliferator- Activated Receptor Alpha (PPARA), a protein associated with the activation of other genes and also in regulation of fatty acid oxidation during exercise. A lack of energy in the cells activate this gene like during endurance exercises or when fasting. Variants of the gene are shown to be associated with endurance, power, aerobic capacity and cardio fitness (heart rate)

PPARA level is higher in tissues which catabolize fatty acids like skeletal and cardiac muscle and the liver while it is lower in other tissues like the pancreas.

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

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

Association with Endurance:

In a study conducted on athletes, people with G variant were associated with endurance. A similar study conducted on soccer players showed that people with the G variant were highly represented. People with the G variant were found to have higher amount of slow twitch fibers.

Association with Power:

People with the C variant of the gene had better hand grip strength, thereby, better at power based activities than people with the G variant.

Association with Aerobic capacity:

People with the G variant were associated with higher oxygen consumption, thereby better aerobic capacity when compared with people with the C variant of the gene.

Association with Cardio fitness (Oxygen pulse):

People with the G variant were associated with higher values of oxygen pulse.

Genotype   rs4253778PhenotypeRecommendation
GG[Advantage] More likely to have better endurance [Advantage] More likely to have more slow twitch fibers [Advantage] More likely to have better aerobic capacity [Advantage] More likely to have higher oxygen pulseLikely better endurance Include plenty of endurance based activities like dancing and playing cricket into the fitness routine
GCModerate power and enduranceLikely better endurance Include plenty of endurance based activities like dancing and playing cricket into the fitness routine
CC[Advantage] More likely to have better power   [Advantage] More likely to have more fast twitch fibers [Limitation] More likely to have lower aerobic capacity [Limitation] More likely to have lower oxygen pulseLikely better power Include power based activities like kicking a football and squats into the fitness routine


References
:

  1. http://www.ommegaonline.org/article-details/Role-of-Peroxisome-Proliferator-Activated-Receptor-Alpha-(PPARA)-rs4253778-Polymorphism-in-Endurance-Phenotype/1152
  2. https://www.researchgate.net/publication/226721692_PPARa_gene_variation_and_physical_performance_in_Russian_athletes
  3. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4157815/

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.”

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 VersionMMP3 SNPs
23andMe (Use your 23andme raw data to know your MMP3 Variant)
v1 23andmePresent
v2 23andmePresent
v3 23andmePresent
v4 23andmePresent
V5 23andme (current chip)Present
AncestryDNA  (Use your ancestry DNA raw data to know your MMP3 Variant)
v1 ancestry DNAPresent
V2 ancestry DNA (current chip)Present
Family Tree DNA  (Use your FTDNA raw data to know your MMP3 Variant)
OmniExpress microarray chipPresent

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 tendon 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)PhenotypeRecommendation
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 stiffnessThere is low risk of injury, which would allow active participation in various sports, provided other genetic factors also indicate a low risk.
AGModerate stiffness on rotator cuff injury repairThere 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 stiffnessThere should be increased period of rest between training sessions to lower risk of injury

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.”

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