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.”

ACE gene: An introduction

ACE gene codes for Angiotensin-Converting Enzyme.

This enzyme is a part of the Renin-Angiotensin System, which is responsible for maintaining blood pressure, and fluid and salt balance in the body.

The enzyme cleaves the protein angiotensin I at a particular site, converting it into angiotensin II.

This angiotensin II brings about constriction of blood vessels, thereby increasing the blood pressure.

ACE gene is located on the long arm of chromosome 17.

Mutations in the ACE gene have been associated with a severe form of the renal disease called renal tubular dysgenesis.

What are ACE inhibitors? 

As the name goes, ACE inhibitors are medications that slow down or inhibit the effects of angiotensin-converting enzyme (ACE).

Such medications are involved in relaxing the blood vessels and reducing blood pressure levels.

They are primarily used as anti-hypertensive drugs.

The ACE inhibitors prevent the angiotensin-converting enzyme from producing angiotensin II.

This reduces blood pressure and makes it easier for the heart to pump blood, thereby improving the functioning of the heart.

ACE inhibitors can be used to treat the following conditions:

Common examples of ACE inhibitors are:

What are the side effects of ACE inhibitors? 

Like any other medication, ACE inhibitors too, have a few side effects. But, most of them are not a cause of worry.

These include:

ACE inhibitors and weight loss 

According to a study conducted by researchers in Australia, it was observed that ACE deficient mice weighed 20% lesser than the mice with ACE activity. It was also observed that the ACE deficient mice had 50% less body fat, especially around the belly area. 

The results from this study have suggested that ACE inhibitors might help in weight loss around the mid-section in humans.

This, along with the other effects of ACE inhibitors, might be cardio-protective.

Handpicked article for you: Is Dr. Rhonda Patrick Diet For You? Analyze Your DNA Raw Data To Find Out Your Nutritional Needs!

Are ACE inhibitors safe for the kidneys? 

ACE inhibitors are cardio and renoprotective.

They reduce systemic vascular resistance in patients with hypertension, chronic renal disease, and heart failure.

ACE inhibitors as we know by now cause a fall in the blood pressure.

Intrarenal efferent vasodilation is also observed along with a fall in the glomerular filtration pressure.

These events are said to be renoprotective.

However, when the glomerular filtration is critically dependent on the angiotensin II-mediated efferent vascular tone, giving ACE inhibitors to the patient can induce acute renal failure.

The systemic and renal hemodynamic consequences, both benefits and adverse effects, are brought about by the depletion of sodium. 

Treating such patients with diuretics and ACE inhibitors, along with some sodium intake restrictions, can improve their therapeutic efficiency.

So, if the patients have a high risk of adverse renal effects to ACE inhibitors, their dosages should be titrated appropriately, and renal function and potassium levels should be closely monitored.

ACE inhibitors vs. beta-blockers 

ACE inhibitors and beta-blockers are both classes of drugs that are used to treat hypertension.

Though their goal is the same, their mechanism of action is entirely different. 

ACE inhibitors work by preventing the conversion of angiotensin I to angiotensin II.

Thus, they cause the relaxation of blood vessels and lower the blood pressure.

Beta-blockers, on the other hand, block epinephrine (adrenaline) and norepinephrine (noradrenaline) from binding to beta receptors on the nerves.

This reduces the heart rate and subsequently lowers blood pressure.

Both these classes of drugs have their side effects and drawbacks.

In most cases, a combination of one or more anti-hypertensive drugs is used to treat high blood pressure.

What is hypertension? 

Hypertension is a widespread and highly prevalent lifestyle disease.

It is a medical term given for consistently high blood pressure over 120mm Hg systolic and 80mm Hg diastolic.

Hypertension is characterized by the flow of blood at high pressure against the walls of the blood vessels. 

As a result, the workload of the blood vessels and the heart increases substantially.

Over a period of time, this force and friction on these tissues end up damaging them, and this can precipitate many conditions.

Some of them include:

What are the leading causes and symptoms of hypertension? 

Hypertension can be of two types: Primary and secondary.

When the rise in blood pressure levels is due to a non-identifiable cause, it is known as primary hypertension.

However, when there is an increase in the blood pressure levels due to an underlying condition, it is called secondary hypertension.

Some common causes of hypertension include:

Though hypertension is often silent, in some cases, the patient does show some symptoms. Like:

What are the four stages of hypertension? 

[table id=124 /]

Individuals who are in the prehypertension stage can progress to the other stages if immediate action is not taken.

Untreated cases of hypertension can even be fatal.

Diet recommendations to reduce blood pressure

One of the primary causes that result in hypertension is poor lifestyle choices, which includes an unhealthy diet.

So, to reduce the blood pressure levels and maintain it under the limit, certain dietary recommendations should be followed.

What is the DASH diet? 

DASH diet is an acronym for Dietary Approaches to Hypertension diet.

The plan includes adopting a diet which includes fruits, vegetables, whole grains, low-fat dairy, nuts and seeds, legumes, fish, and poultry.

The most important aspect is to eat foods that are rich in potassium, calcium, magnesium, protein, and fiber and avoiding foods rich in sodium.

DASH diet is low salt and low sugar diet that does not allow the intake of desserts, sweetened drinks and beverages, red meat, and processed meats and fats.

The diet allows a maximum of 2000 calories a day, which includes:

  1. 7-8 servings of grains
  2. 4-5 servings each of fruits and vegetables
  3. 2-3 servings of low-fat or fat-free dairy products
  4. 1-2 servings of lean meat or fish 
  5. 4-5 servings of nuts and seeds per week
  6. 2-3 servings of oil or fat 
  7. Not more than five servings of sweets per week 

Can high blood pressure be cured?

In most cases of primary hypertension, blood pressure levels can be brought down by a combination of medications, dietary changes, regular exercise, and lifestyle modifications.

Once the blood pressure has been controlled, the individual can maintain his/her blood pressure levels within a reasonable range by living and eating healthy.

In many cases, a precautionary medication is advised to prevent the blood pressure from shooting up. 

Salt intake and high blood pressure 

Our kidneys are responsible for water and salt regulation.

More the salt we consume, more the kidneys tend to retain water.

The increased water retention results in an increase in our systemic blood pressure.

This leads to increased pressure on the walls of many blood vessels, which may result in organ damage. 

ACE gene and hypertension 

Of the many factors that can cause hypertension, the ACE gene also plays a role.

We know that the blood pressure in the body is controlled by the kidneys.

But, to be more specific, the Renin-Angiotensin System or RAS system is responsible for regulating it.

Some genetic variations are related to the RAS system, the most common one being the insertion/deletion polymorphism of the ACE gene.

So, essentially, the interactions between the ACE I/D polymorphism, sodium intake the RAS system determine your blood pressure and influence the risk of developing hypertension.

rs2106809

It was observed that the DD genotype of ACE and the TT genotype of ACE2 were significantly high in female hypertensives and the T allele of ACE2 was also linked to male hypertensives.

[table id=123 /]

rs4308

SNP rs4308 is located on chromosome 17.

Presence of the A allele is responsible for the increase in the diastolic blood pressure.

This SNP locus also features as a target of anti-hypertensive drugs.

ACE gene and fitness 

The ACE gene has been linked to athletic performance.

A genetic variation consisting of 287 DNA bases when inserted into the ACE gene causes a decrease in the ACE enzyme activity.

This version of the gene is called the ‘I’ version.

This variation is shown to be present in athletes, especially sprinters.

The presence of this insertion has been seen in many athletes who perform well in endurance sports such as wrestling, swimming, triathlons, etc.

Though the exact mechanism of how the ACE I gene contributes to fitness and athleticism is unknown, it probably has something to do with an increase in the heart rate, blood pressure, and muscle growth during training.

rs4343

SNP rs4343 of the ACE gene has the ‘A’ and ‘G’ allele.

The A allele is associated with the insertion or I variation, whereas the G allele of the gene is associated with deletion or the D variation.

The G allele results in an increased risk of heart disease (GG) whereas, the minor A allele shows an increased association with endurance-based athletes. 

SNP rs4343 has also recently been linked to susceptibility to migraine, where a G/G polymorphism was seen in patients with migraine with aura as compared to patients of migraine without aura.

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

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

References:

  1. https://ghr.nlm.nih.gov/gene/ACE#synonyms
  2. https://www.ncbi.nlm.nih.gov/pubmed/8879974
  3. https://www.ncbi.nlm.nih.gov/pubmed/17473847?dopt=Abstract
  4. https://www.ncbi.nlm.nih.gov/pubmed/24112034
  5. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5972004/

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 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. http://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.”

The Vascular Endothelial Growth Factor (VEGFA) gene is associated with the synthesis VEGFA, a molecule associated with the formation of new blood vessels (angiogenesis) upon training. This adaptation allows the body to increase supply of nutrients and oxygen to the trained muscles as well as remove waste products. VEGFA is associated indirectly with the widening of blood vessels (vasodilation).  Blood flow to the muscles is increased as VEGFA triggers nitric oxide and other molecules which relax the blood vessels. Specific alleles of this gene are known to either increase or decrease the levels of VEGFA during and after exercise. People with the G variant of the gene were associated with lower level of the protein VEGFA.

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

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

Association with Running:

A study conducted on cyclists showed that people with the C variant of the gene were more common among endurance athletes than non-athletes.

Association with Aerobic Capacity:

People with the C variant of the gene were associated with better aerobic capacity and significant increase in VO2 max after 24 weeks of aerobic training when compared with people with the G variant of the gene.

Genotype rs2010963PhenotypeRecommendation
CC[Advantage] More likely to have higher level of VEGFA on exercising   [Advantage] More likely to significantly improve VO2 max with training [Advantage] More likely to have better aerobic capacity [Advantage] Better enduranceLikely to respond well to aerobic training and endurance training
CGModerate level of VEGFA on exercising and moderate aerobic capacityLikely to respond moderately to aerobic training and endurance training
GG[Limitation] More likely to have lower level of VEGFA on exercising compared to CC   [Limitation] More likely to have lower VO2 max after exercising [Limitation] More likely to have lower aerobic capacity [Limitation] Poor enduranceLikely poor responder to endurance running due to low amount of new blood vessel formation in the targeted muscle. Mild improvements in aerobic capacity and endurance performance on carrying out aerobic fitness training can be expected.

References:

  1. http://ajpheart.physiology.org/content/290/5/H1848.long
  2. https://www.researchgate.net/publication/226018635_Polymorphism_of_the_vascular_endothelial_growth_factor_gene_VEGF_and_aerobic_performance_in_athletes
  3. https://fitnessgenes.com/how-it-works/genes-we-analyze/vegfa/
  4. https://www.dnafit.com/blog/gene_in_focus_-_part_17:_vegf_3353.asp
  5. http://www.genespark.com.au/wp-content/uploads/2016/06/Example_Fitness_Report.pdf
  6. http://www.uniprot.org/uniprot/P15692
  7. http://www.medinvita.ch/images/test-medici/FIT_SampleENGLISH.pdf

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 skeletal muscle consists of two types of fibers - fast twitch and slow twitch. The slow twitch fibers work efficiently for a long period of time while the fast twitch fibers are responsible for the short and sudden burst of power necessary for sprinting or weightlifting. The ACTN3 gene is associated with the synthesis of alpha actinin 3 protein present in the fast twitch fibers (Type II) of skeletal muscle. The alpha actinin 3 protein is found almost exclusively in the fast twitch fibers.
Specific alleles of this gene are known to either increase or decrease the extent of muscle power based on the synthesis of the alpha actinin 3 protein. People with the C variant of the gene are associated with higher muscle power due to the presence of active alpha actinin 3 protein while people with the T variant of the gene are associated with lower muscle power due to the presence of inactive alpha actinin 3 protein. As a result, sprint or power athletes tend to have at least one copy of the C allele. Both the C and the T allele carriers have selective advantages in different environmental conditions.

ACTN3 Gene in various chip versions

CHIP VersionACTN3 SNPs
23andMe (Use your 23andme raw data to know your ACTN3 Variant)
v1 23andmePresent
v2 23andmePresent
v3 23andmePresent
v4 23andmePresent
V5 23andme (current chip)Present
AncestryDNA  (Use your ancestry DNA raw data to know your ACTN3 Variant)
v1 ancestry DNAPresent
V2 ancestry DNA (current chip)Present
Family Tree DNA  (Use your FTDNA raw data to know your ACTN3 Variant)
OmniExpress microarray chipPresent
GenotypePhenotype
TT[Limitation] Absence of active form of alpha actinin 3 protein [Limitation] More likely to have lower muscle power [Advantage] Better suited for endurance based activities
CT[Advantage] Presence of active form of alpha actinin 3 protein [Advantage] More likely to have moderate muscle power [Advantage] Better suited for sprinting
CC[Advantage] Presence of active form of alpha actinin 3 protein [Advantage] More likely to have higher muscle power [Advantage] Better suited for sprinting and power activities
For people with C variant (High Muscle Power) Greater power due to the presence of the active alpha actinin 3 protein allows you to perform a variety of power based activities like sprinting and weightlifting High-intensity workout will yield better results Most elite sprinters and power athletes have at least one copy of this gene
For people with T variant (Low Muscle Power) Lower muscle power due to absence of the active alpha actinin 3 protein Slow and efficient muscle performance will aid in endurance activities like long distance running, playing tennis, basketball and dancing. Low to mid intensity workouts for longer durations will yield better results

References:

  1. Nan Yang, Daniel G. MacArthur, Jason P. Gulbin, Allan G. Hahn, Alan H. Beggs, Simon Easteal,and Kathryn North; “ACTN3 Genotype Is Associated with Human Elite Athletic Performance”; Am J Hum Genet. 2003
  2. Seok-Ki Min, Seung-Taek Lim, and Chang-Sun Kim; “Association of ACTN3 polymorphisms with BMD, and physical fitness of elderly women”; J Phys Ther Sci. 2016 Oct
  3. http://kohlmanngen677s13.weebly.com/
  4. http://playdna.co.uk/images/Sports%20Brochure%20example%20pages.pdf
  5. https://www.dnafit.com/blog/gene_in_focus_-_part_3:_actn3_3307.asp
Find out which variation of the gene you carry and more at www.xcode.life

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 COL5A1 gene is associated with the synthesis of type V collagen, a key constituent of ligaments and tendons. Specific alleles of this gene are known to either increase or decrease the risk of injury.

Does your 23andme, Ancestry DNA, FTDNA raw data have COL5A1 gene variant information?

CHIP VersionCOL5A1 SNPs
23andMe (Use your 23andme raw data to know your COL5A1 Variant)
v1 23andmePresent
v2 23andmePresent
v3 23andmePresent
v4 23andmePresent
V5 23andme (current chip)Present
AncestryDNA  (Use your ancestry DNA raw data to know your COL5A1 Variant)
v1 ancestry DNAPresent
V2 ancestry DNA (current chip)Present
Family Tree DNA  (Use your FTDNA raw data to know your COL5A1 Variant)
OmniExpress microarray chipPresent

Association with Muscle Injury:

A study conducted on people with Achilles tendinopathy showed that those with the CC genotype of COL5A1 were associated with a lowered risk of developing Achilles tendinopathy compared to people with the T variant. Similar results were seen among people with anterior cruciate ligament injuries, again people with the CC genotype were found in lower numbers in a group of people with an ACL injury.

Association with Flexibility:

In terms of flexibility, people with the T variant of the gene are associated with a lower range of motion, implying that they could be less flexible. People with the TT genotype have tendons that are stiffer than those with the CC genotype. The stiff tendons and the lowered range of motion could be the reason behind the potential increase in the risk of injury among people with the TT genotype.  

Association with Endurance:

Stiffer Achilles tendons have an increased capacity to store and return energy thus providing an advantage in endurance running. This would mean that people with stiff Achilles tendons would require a lower amount of energy for every step, making such runners more efficient. This is what makes people with the T variant (less flexible) better suited for long-distance running events. Support for this theory comes from an ultra-marathon running study conducted in 2011. The study reported that people with the T variant had stiffer tendons but finished significantly faster than people with the C variant of the gene Col5A1.

Association with Likelihood of Fatigue:

In a study conducted on people with a self-reported history of exercise-associated muscle cramping, people with the C variant were shown to be over-represented among people with no history of exercise-associated muscle fatigue.

GenotypePhenotypeRecommendations
TT[Limitation] More likely to have stiff tendons and increased risk of injuries and tendinopathies. [Limitation] Likely to have decreased range of motion (flexibility) [Advantage] Better endurance [Limitation] More likely to have a higher risk of muscle fatigue/ muscle crampingLikely better at endurance running than the C variant Increased risk for injuries - warm-ups and stretching before workouts are important to avoid injury. Recuperative therapies such as massages can help
CT[Limitation] More likely to have stiff tendons and increased risk of injuries and tendinopathies. [Limitation] Likely to have decreased range of motion (flexibility) [Advantage] Better endurance [Limitation] More likely to have a higher risk of muscle fatigue/ muscle crampingLikely better at endurance running than the C variant Increased risk for injuries - warm-ups and stretching before workouts are important to avoid injury. Recuperative therapies such as massages can help
CC[Advantage] More likely to have an increased range of motion (Flexibility) [Advantage] Lower risk of ACL injuries and Tendinopathies [Limitation] Lower endurance [Advantage] More likely to have a lower risk of muscle fatigue/ muscle crampingGreater flexibility due to an increased range of motion allows you to perform a variety of different exercises easily. Lower risk of injury allows you to remain active and train often.
  1. Brown JC, Miller CJ, Posthumus M, Schwellnus MP, Collins M “The COL5A1 gene, ultra-marathon running performance, and range of motion.” Int J Sports Physiol Perform. 2011 Dec
  2. Posthumus M, September AV, O'Cuinneagain D, van der Merwe W, Schwellnus MP, Collins M “The COL5A1 gene is associated with increased risk of anterior cruciate ligament ruptures in female participants.” Am J Sports Med. 2009
  3. September AV1, Cook J, Handley CJ, van der Merwe L, Schwellnus MP, Collins M. “Variants within the COL5A1 gene are associated with Achilles tendinopathy in two .populations.” Br J Sports Med. 2009 May

“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.”

Our unique genetic profile can make some of us more suitable for endurance activities, others for more intense sprinting activities or power training.

Genes involved in ‘endurance type of activities’ minimize muscle fatigue during prolonged period of mild to moderate intensity exercises, while genes involved in ‘sprinting’ relate to power, rapid bursts of energy, and optimum energy utilisation for activities of shorter duration. Depending upon the expression of Endurance/ Sprinting genes a person is categorized as adaptive for either of these.

There are two different types of muscle fibres which are important for these activities, each type being regulated by specific genes. Type I or slow twitch muscle fibres are mainly responsible for improving endurance. In contrast, Type II or fast twitch muscle fibres allow us to perform rapid, high intensity exercises.

It is a proven fact that regular exercise assures health benefits and improves your fitness level. It is noteworthy that genes determine your adaptability for the type, intensity and duration of activity (endurance/sprinting) based on your capacity for aerobic metabolism, extent of muscle fatigue and the time required for its recovery and slow/fast twitch muscle contraction. Therefore, based on specific variations within these genes in a person’s DNA, the type of exercise (endurance/sprinting) suitable for that person can be determined.

Do you have your DNA raw data from 23andMe, AncestryDNA, FTDNA, MyHeritage?

Upload your DNA raw data to Xcode Life. The Gene Fitness Report analyses endurance, weight loss or weight gain with exercise, and more than 15+ such traits.

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