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.”

The MCT1 gene is associated with the synthesis of MCT1, a molecule that transports lactic acid across the muscle cell membrane. Specific alleles of this gene are known to either increase or decrease the risk for fatigue and muscle injury after intense exercises. People with the T variant of the gene are associated with lower transport of lactic acid due to lower levels of MCT1, implying that they could experience earlier fatigue onset on exercising.

Does your 23andme, Ancestry DNA, FTDNA raw data have MCT1 gene variant information?

CHIP VersionMCT1 SNPs
23andMe (Use your 23andme raw data to know your MCT1 Variant)
v1 23andmePresent
v2 23andmePresent
v3 23andmePresent
v4 23andmePresent
V5 23andme (current chip)Present
AncestryDNA  (Use your ancestry DNA raw data to know your MCT1 Variant)
v1 ancestry DNAPresent
V2 ancestry DNA (current chip)Present
Family Tree DNA  (Use your FTDNA raw data to know your MCT1 Variant)
OmniExpress microarray chipPresent

Association with Running:

A study conducted on sprint/power athletes showed that those with the TT genotype of MCT1 were associated with power athletes when compared to people with the A variant. Conversely, in a study conducted on rowers, the AA genotype was associated with greater frequency among endurance athletes.

Association with Muscle Injury:

People with the AA genotype are at a higher risk of muscle injury while the T variant of the gene may have a protective effect due to lowered transport of lactic acid into muscles for oxidation.

GenotypePhenotypeRecommendation
TT[Limitation] Lower lactate threshold, hence early fatigue onset [Advantage] More likely to have lower risk of muscle injury [Advantage] Better sprint running performanceHigher risk of fatigue- Mild to moderate intensity exercises will aid in lowering risk of fatigue Better sprint running performance Lower risk of muscle injury- Strength training results in low lactate accumulation for people with T variant. Increasing the intake of magnesium rich foods in the diet like kidney beans, navy beans and pinto beans lower accumulation of lactic acid.
ATModerate risk of fatigueBetter at endurance activities, such as long distance running, playing tennis, basketball, dancing and aerobics. Increased risk for muscle injuries- Carrying out mild to moderate intensity exercises will lower risk of injuries. Strength training should be carried out with lower weight and more repetitions
AA[Advantage] Higher lactate threshold, hence later fatigue onset [Limitation] More likely to have higher risk of muscle injury [Advantage] Better endurance running performanceBetter at endurance activities, such as long distance running, playing tennis, basketball, dancing and aerobics. Increased risk for muscle injuries- Carrying out mild to moderate intensity exercises will lower risk of injuries. Strength training should be carried out with lower weight and more repetitions

References:

  1. Sawczuk M, Banting LK, Cięszczyk P, Maciejewska-Karłowska A, Zarębska A, Leońska-Duniec A, Jastrzębski Z, Bishop DJ, Eynon N. “MCT1 A1470T: a novel polymorphism for sprint performance?”; J Sci Med Sport. 2015 Jan
  2. Myosotis Massidda, Nir Eynon, Valeria Bachis, Laura Corrias, Claudia Culigioni, Francesco Piras, Paolo Cugia, Marco Scorcu and Carla M. Calò; “Influence of the MCT1 rs1049434 on Indirect Muscle Disorders/Injuries in Elite Football Players”; Sports Medicine – 2015
  3. Fedotovskaya ON1, Mustafina LJ, Popov DV, Vinogradova OL, Ahmetov II.; “A common polymorphism of the MCT1 gene and athletic performance.”; Int J Sports Physiol Perform. 2014 Jan
  4. https://www.omicsgroup.org/journals/association-between-ventilatory-thresholds-related-to-aerobic-fitness-and-mct1-a1470t-polymorphism-2473-6449-1000105.php?aid=69866&view=mobile
  5. http://www.sciencedirect.com/science/article/pii/S1440244012000370
  6. https://fitnessgenes.com/how-it-works/genes-we-analyze/mct1/
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