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GA‐binding protein (GABP) transcription factor gene, also known as the Nuclear Respiratory Factor 2 (NRF2) gene is associated with the synthesis of GABPB1, a key transcriptional activator of numerous nuclear genes which produce various mitochondrial enzymes. The variants of the GABPB1 gene that code for the beta1 subunit of NRF2 protein have been shown to be associated with endurance. Specific alleles of this gene are known to either increase or decrease GABPB1 which stimulates mitochondrial biogenesis upon exercising.

Does your 23andme, Ancestry DNA, FTDNA raw data have GABPB1 gene variant information?

CHIP VersionGABPB1 SNPs
23andMe (Use your 23andme raw data to know your GABPB1 Variant)
v1 23andmePresent
v2 23andmePresent
v3 23andmePresent
v4 23andmePresent
V5 23andme (current chip)Present
AncestryDNA  (Use your ancestry DNA raw data to know your GABPB1 Variant)
v1 ancestry DNAPresent
V2 ancestry DNA (current chip)Present
Family Tree DNA  (Use your FTDNA raw data to know your GABPB1 Variant)
OmniExpress microarray chipPresent

Association with Running:

A study conducted on track and field athletes showed that people with the A variant of the gene were more common among endurance athletes than non-athletes. In a similar study conducted on elite endurance, elite power and non-athletes, it was found that people with the A variant were found to be more common among elite endurance athletes.

Association with Aerobic Capacity:

People with the A variant of the gene were associated with better baseline aerobic capacity and an increase in VO2 max upon aerobic training, when compared with people with the C variant of the gene.

Genotype Phenotype
AA[Advantage] More likely to improve VO2 max on training [Advantage] More likely to have better aerobic capacity [Advantage] Better endurance ability
ACModerate endurance and moderate aerobic capacity
CC[Limitation]Less likely to improve VO2 max on training [Limitation] More likely to have lower aerobic capacity [Limitation] Lower endurance ability than people with the A variant
For people with A variant (Better Endurance)  Likely better at endurance running and better aerobic capacity. Tennis, dancing and participating in marathons are some endurance based activities
For people with G variant (Lower Endurance) Likely poor at endurance running Endurance based activities would require additional training and more effort.


References
:

  1. https://www.ncbi.nlm.nih.gov/pubmed/?term=17357964
  2. https://www.ncbi.nlm.nih.gov/pubmed/22749526?dopt=Abstract
  3. https://www.ncbi.nlm.nih.gov/pubmed/20028934

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 PPARGC1A gene is associated with the synthesis of peroxisome proliferator-activated receptor gamma coactivator 1-alpha (PGC-1a), which is associated with mitochondrial biogenesis or the production of new mitochondria within the muscle. Specific alleles of this gene are known to either increase or decrease the levels of PGC-1a. People with the A variant of the gene are found to synthesize lower amount of the protein PGC-1a, which affects endurance and aerobic fitness.

Does your 23andme, Ancestry DNA, FTDNA raw data have PPARGC1A gene variant information?

CHIP VersionPPARGC1A SNPs
23andMe (Use your 23andme raw data to know your PPARGC1A Variant)
v1 23andmePresent
v2 23andmePresent
v3 23andmePresent
v4 23andmePresent
V5 23andme (current chip)Present
AncestryDNA  (Use your ancestry DNA raw data to know your PPARGC1A Variant)
v1 ancestry DNAPresent
V2 ancestry DNA (current chip)Present
Family Tree DNA  (Use your FTDNA raw data to know your PPARGC1A Variant)
OmniExpress microarray chipPresent

Association with Running:

A study conducted on male Spanish endurance athletes and controls showed that people with the A variant of the gene were present in low frequency among the endurance athletes. A similar study conducted on Israeli endurance athletes provided the same result.

Association with Aerobic Fitness:

People with the G variant of the gene were associated with better mitochondrial biogenesis at baseline and after aerobic training, which increases aerobic capacity.  The A variant of the gene has been associated with impairment of aerobic capacity.

Association with Insulin Sensitivity:

Mitochondrial dysfunction is associated with the pathogenesis of insulin resistance and type 2 diabetes. People with the G variant of the gene are associated with increased mitochondrial biogenesis in response to aerobic fitness training which increases aerobic fitness and insulin sensitivity.

Association with Lactate Threshold:

PGC-1a alters the composition of the Lactate dehydrogenase H complex and prevents the increase in blood lactate during exercise. PGC-1a has been shown to be associated with coordinating lactate homeostasis, enhancing exercise performance and improving metabolic health. In a study conducted to determine exercise mediated oxidative stress, people with A variant were found to have significantly higher lactate levels when compared with people with the G variant.

GenotypePhenotypeRecommendation
AA[Limitation] More likely to have lower level of PGC1 [Limitation] More likely to have lower mitochondrial biogenesis on aerobic training [Limitation] Less likely to have increased insulin sensitivity on aerobic training [Limitation] More likely to have decreased VO2 max [Limitation] More likely to have higher level of blood lactate [Limitation] Poor EnduranceLikely lower endurance and better suited for sprint or power training. Power training exercises like power skips or fast uphill runs are recommended fitness routines. Massage therapy is found to increase the level of PGC1, thereby mitochondrial biogenesis, so regular rejuvenation is recommended.
AGMore likely to have moderate level of PGC-1 and moderate mitochondrial biogenesisInclude endurance based activities
GG[Advantage] More likely to have higher level of PGC-1 [Advantage] More likely to have higher mitochondrial biogenesis on aerobic training [Advantage] More likely to have increased insulin sensitivity on aerobic training [Advantage] More likely to have normal VO2 max [Advantage] More Likely to have lower level of blood lactate [Advantage] Better EnduranceLikely better endurance, so activities like playing tennis, dancing or training for a marathon is recommended. Including aerobic fitness training could also improve sensitivity to insulin.

References:

  1. https://jap.physiology.org/content/99/1/344.long
  2. https://www.ncbi.nlm.nih.gov/pubmed/19422653
  3. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4840260/
  4. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3666691/

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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