ACE Gene INTRODUCTION
One copy of a particular version of the ACE gene has been found more often in elite endurance athletes, and every climber tested to date who has ascended over 8,000m. Your FitnessGenes result tells you whether you carry this endurance version, the alternative power/strength version or both.YOUR PERSONAL ANALYSIS
WHAT THIS MEANS FOR YOU
ACE is a protein responsible for the production of angiotensin II, a hormone that causes blood vessels to constrict, encourages fluid retention and increases blood pressure. You have one copy of the long version (I) and one copy of the short version (D) of the ACE gene. As a result, you will likely have intermediate circulating levels of the vasoconstrictor ACE compared to both DD and II individuals. This means that you have a potential aptitude for both endurance and power/strength.
You are likely to have a balance of fast and slow-twitch muscle fibres rather than a strong predisposition for one or the other. In terms of muscular endurance (how long you can perform repetitive movements, such as lifting a moderately light weight or long durations of moderately intense running) and strength you are likely to be intermediate between both the alternative genotypes (II & DD) if you have never previously done any strength training. Don’t worry; training hard and consistently will overcome these differences and will not prevent you from progressing to a stronger, fitter version of yourself!
In terms of gaining strength, it is likely you may respond to both low intensity, higher volume and high intensity, lower volume resistance training (ideal rep range is 10-16.) However, if you are a beginner, lower intensity and moderate volume workouts might be best for you when first starting out. It is worth remembering that during any strength training program, periodisation is always advised to help work on your weak points, overcome training plateaus, manage fatigue and build an all round stronger body. Finally, although more research is required, preliminary studies suggest you are likely to respond well to HIIT in terms of improving your aerobic capacity.
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ACTN3 INTRODUCTION
ACTN3 is the world’s most famous ‘gene for speed’. This gene encodes for α-actinin-3, a protein that has been linked to greater baseline strength, a protective effect against muscle damage, and an increase in fast-twitch muscle fibres. One particular version of ACTN3 has been found in almost every Olympic sprinter ever tested. Your FitnessGenes result will tell you if you carry the ‘sprinter’ version, the version linked to endurance or both.YOUR PERSONAL ANALYSIS
WHAT THIS MEANS FOR YOU
You have one working copy (R) and one non-working copy (X) of the ACTN3 gene and as a result your body is able to produce alpha-actinin-3 muscle protein, although possibly at lower levels than those individuals who carry two working copies.
The ability to produce this protein appears to be strongly linked to elite sporting performance, especially in events that require a significant amount of speed/power, such as sprinting and weightlifting. The R allele is found much more often than would be expected by chance in groups of speed/power athletes. Conversely, the X allele tends to be over-represented in elite endurance athletes, and there is some evidence from animal studies that it is linked to physiological changes that contribute to better endurance performance. As with most physical traits, there is a trade-off.
R allele carriers have been recorded as having higher baseline strength than XX types on average. The presence of the alpha-actinin-3 protein also appears to play a protective role in the extent of muscle damage post-exercise. R carriers are likely to be less vulnerable to muscle damage, and suffer less painful delayed onset muscle soreness (DOMS), although studies also show recovery of muscle force during a bout of exercise may be slower than with the XX types.
In older women, there is some evidence that muscle mass is higher in R carriers and older women with an R allele respond better to resistance training. This suggests the presence of the R allele may be beneficial for maintaining muscle mass in this group.
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CYP1A2 INTRODUCTION
Caffeine has been used by athletes for a long time as a performance-enhancing drug. Studies have shown that taking caffeine improves performance in sports and exercise.Your FitnessGenes result tells you which caffeine-clearing molecule you carry and how long you can expect it to take for caffeine to be removed from the bloodstream.
YOUR PERSONAL ANALYSIS
WHAT THIS MEANS FOR YOU
You have two copies of the A allele and are considered a ‘fast metaboliser’ of caffeine if you are a heavy coffee drinker, smoker, or consumer of at least 7g per kg of bodyweight in cruciferous vegetables. Our recommended dose is 3—6mg of caffeine per kg of bodyweight. For example, if you weigh 65kg and take 3mg per kg of bodyweight, you would take a dose of 195mg of caffeine before exercise. We recommend taking this dose 30—60 minutes before exercising and at least 6 hours before bedtime. If you are a heavy coffee drinker, you can take caffeine 4.5 hours before bedtime, if you are a smoker you can take this dose 3 hours before bedtime, and if you eat cruciferous vegetables you can take it 5.5 hours before bedtime.
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FTO INTRODUCTION
Genetics is known to influence food cravings, with carriers of a particular version of the FTO gene seemingly biologically wired to eat more and feel hungrier sooner. In ancient humanity, where food was scarce, this is likely to have been a straightforward survival mechanism, but it becomes problematic in a modern world with easy access to high-energy foods. Your FitnessGenes result will tell you whether you have any copies of the FTO gene linked to increased appetite.YOUR PERSONAL ANALYSIS
WHAT THIS MEANS FOR YOU
Research has shown that those with the TT genotype have a lesser appetite and exhibit more controlled eating compared to carriers of the A allele. In addition, it seems they are less likely to preferentially choose fattier food options, consuming a lower proportion of energy from fat, although this has been debated.
Individuals with one or two copies of the obesity-risk A allele are therefore considered to be biologically programmed to eat more. One study of 40 normal-weight men reported that after a 12-hour overnight fast, the A allele carriers described feeling significantly hungrier, with a higher desire to eat and belief that they could eat significantly more right now than the TT types! Even when they’ve eaten, there is evidence that achieving satiety for A carriers is harder. Following a meal, individuals with the AA genotype also rated pictures of high-calorie foods as more appealing than TT types. Not only do they have higher levels of the ‘hunger hormone’ ghrelin in their system and therefore feel hungrier, their brains respond differently to ghrelin and to pictures of food, leading to increased overall appetite.
Being a TT type, it should be a little easier for you to achieve your body-weight goals than those unlucky A allele carriers who constantly feel hungry, but you shouldn’t be complacent about this fact. It is important to understand that there is no evidence that this gene variant has any metabolic effect whatsoever, so if you ease up on the training and overeat through routine or boredom, you will still pile on the pounds!
RECOMMENDATIONS
TRAINING
According to research, if you carry the obesity-risk A allele, the first and foremost thing you should do to aid weight loss is exercise.
A recent meta-study of the available literature indicates that physical activity is a significant modifier of FTO. In this study of over 235,000 people, those A allele carriers with an active lifestyle reduced their odds of obesity by 27%.
But what about those of us who don’t? This doesn’t make exercise any less important of course in terms of getting trim. Regardless of genotype, it is known that exercise, especially high-intensity exercise, leads to greater suppression of appetite following training, as well as the obvious energy expenditure benefits. It’s believed that part of this impact is due to the effect that exercise has on appetite. Exercise is known to alter levels of ‘hunger hormones’ such as ghrelin, and a growing body of evidence indicates that a short bout of exercise can curb appetite for up to 2—10 hours post-exercise.
In addition, there may be other benefits to being TT when it comes to exercise. One small study looked at how well different genotypes performed during a 40-week weight reduction programme. Of those that completed the programme, the TT types showed significantly higher weight loss and were less likely to regain weight during the maintenance phase than AA types.
DIET
There are some very clear indications of what works for AA and AT types, but less so for TT types given that so much of the research is focused on the impact of the obesity-risk A allele.
A allele carriers generally have poor response to ‘Atkins-style’ diets that emphasize high-fat/low-carb intake. One study investigating the effect of the A allele on body composition found that carriers were significantly less likely to complete a 10-week calorie-restricted dietary intervention on the high-fat/low-carb diet than on the low-fat/high-carb diet, seemingly because obese individuals are less sensitive to the ‘filling’ effects of fat. However for TT types, there was little difference found between these different diet interventions and ultimately it appears to give TT types more choice in the type of diet they may prefer to follow. However, this doesn’t mean you can eat what you like: if your energy uptake continually exceeds your energy expenditure due to over-eating, you will put on weight regardless!
One thing is certain: universally, high-protein diets are known to drive weight loss and support subsequent weight maintenance through increased satiety. Research suggests this is driven by neural mechanisms that sense the amino acid products of protein digestion. The amino acid L-cysteine in particular appears to be associated with regulation of food intake with recent research showing that it increased neuronal activation and reduced hunger and ghrelin levels in humans in a dose-dependent manner. It could be that certain amino acids in particular contribute more towards that ‘full’ feeling we get after a high-protein meal and by careful adjustment of levels, we can achieve that feeling of fullness sooner. The temptation to increase the levels of L-cysteine in your diet artificially should be treated with caution, however, as at least one study has also linked high dosages of L-cysteine to oxidative stress.
IN SUMMARY
Being a TT type for this FTO gene variation is pretty beneficial when it comes to getting lean. You’re likely to have a reduced appetite compared to the A allele carriers and therefore find it a little easier to control what you’re eating. The real key for TT genotypes is to pay attention to what you are eating. It’s very easy to mindlessly eat due to routine or boredom when we are not actually hungry or eat too much of the wrong types of food.
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IL15RA INTRODUCTION
This gene is linked to the prevention of muscle breakdown as well as lean body mass and can affect how quickly individuals increase their muscle size (hypertrophy). Your FitnessGenes result will tell you whether you have the version associated with muscle size or whether you have the version linked to muscle strength in response to resistance-type training.YOUR PERSONAL ANALYSIS
WHAT THIS MEANS FOR YOU
An investigation assessing the strength gains of a group of people after a progressive 12 week upper arm strength training program found that those with the AC genotype had lesser strength gains than the CC types, but only in women. In the same study, another genetic variation that is very closely linked to the CC genotype showed significant gains in muscle quality (strength) in men that were not shared by the AC or AA genotype groups.
Based on the evidence to date it appears that the AC genotype may favour a balance of muscle volume to strength, intermediate between the two alternative genotypes. The exact mechanism by which this variation is acting remains to be determined by further functional studies of the gene and proteins involved.
So far no link has been found between this particular genetic variation and body fat mass.
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INTRODUCTION
Lactose tolerance is the ability to digest the lactose in milk and other everyday dairy products. For the majority of people, tolerance for lactose decreases after infancy, often falling away completely during adulthood. However, for others, due to a genetic variant in their DNA, they are able to continue to tolerate lactose indefinitely. Your FitnessGenes result will tell you whether you are genetically able to tolerate lactose.YOUR PERSONAL ANALYSIS
WHAT THIS MEANS FOR YOU
Always consult a qualified dietician when making significant changes to your diet.
You do carry the genetic variation associated with the ability to digest lactose into adulthood and are likely lactose tolerant.
Individuals who carry one copy of the ‘lactose tolerant’ T allele, as opposed to two, have been found to have intermediate levels of lactase activity. This means that while you are able to effectively break down lactose, you may be more susceptible to lactose intolerance at times of stress or gastrointestinal infection.
NUTRITIONAL RECOMMENDATIONS
Important: Ongoing bowel problems such as constipation and diarrhoea must ALWAYS be investigated by your doctor. Digestive health is important and, whilst it can be affected by dietary issues, it is also affected by disease so please exercise caution.
BEING LACTOSE TOLERANT
As a lactose digester, you should have no problem consuming dairy products and getting the full benefit of the essential nutrients they contain. Milk is packed full of calcium, phosphorous, magnesium, and protein, which are all essential for healthy bone growth and development. Adequate consumption of milk and dairy from early childhood and throughout life can help to make the bones strong and protect them against brittle bone diseases (like osteoporosis) in later life.
BUT I THINK I AM LACTOSE INTOLERANT!****(here! Here!)
Lactose intolerance can also occur for environmental reasons, for example as a result of illnesses — like viral gastroenteritis or celiac disease — that damage the brush border of the small intestine. This is known as secondary or acquired lactase deficiency. The good news is it’s usually reversible; there are steps you can take to slowly reintroduce lactose into your diet.
In addition, it is worth being aware that the type of symptoms associated with lactose intolerance could also be an indication of cow’s milk protein allergy, which affects as many as 20% of people with symptoms, although it is rare in adults. A food allergy is not the same as an intolerance. An allergy to milk is an overactive autoimmune response to the proteins in milk, whereas lactose intolerance means your body can’t digest the sugars in milk so it just passes through (albeit making you very uncomfortable in the process).
SECONDARY LACTOSE INTOLERANCE
Secondary lactose intolerance is a shortage of the lactose-digesting enzyme lactase caused by a problem in your small intestine. As you get older, lactase production reduces naturally, but it can also be caused by taking certain medications, withdrawal of lactose from the diet, and surgery. The decrease in the production of lactase in secondary lactose intolerance is sometimes only temporary, but it may be permanent if it’s caused by a long-term condition.
The good news is in the majority of cases it is reversible and, with appropriate nutritional advice, lactose can be carefully reintroduced back into the diet.
REINTRODUCING LACTOSE
If you believe you have secondary lactose intolerance, you may benefit from careful reintroduction of lactose to your diet, starting with foods very low in lactose. With appropriate advice, most people with lactose intolerance can stomach some lactose-containing foods without symptoms. Over time, with a carefully designed nutrition plan that involves gradual re-introduction of lactose back into your diet, it is possible to increase your tolerance to milk. This occurs due to upregulation of lactase activity in your small intestine.
Also, fermentation of milk lowers the amount of lactose present because of the lactic acid bacteria, which breaks down the lactose before it enters your body. As a result, dairy foods in the form of aged cheese and fermented milk can provide a good source of protein and calcium as part of a healthy, balanced diet without leading to symptoms of intolerance. For example, you would have to eat 1kg of parmesan to take as much lactose as there is in a glass of milk! Butter also surprisingly contains only traces of lactose.
HIDDEN’ LACTOSE
Lactose is widely used in the food and pharmaceutical industries as an ingredient in processed foods or as a bulking agent or filler in pharmaceuticals. Sometimes it’s labelled as lactose, or as something else — watch out for “lactoserum”, “whey”, “milk solids”, and “modified milk ingredients” — and sometimes it’s not labelled at all! A good trick, because lactose is a sugar, is to check the sugar content. As is has about 1/6 of the sweetness of sucrose, it is also frequently added to sauces, soft drinks, and lager, as it is less likely to cause a ‘sickly sweet’ taste. It may also be added to bread as a browning agent or to add texture and bind water e.g. in processed meats. Some breakfast drinks, powders, and slimming foods can contain as much lactose as milk itself!
Cow’s milk of course is generally high in lactose, so you should be careful of consuming excessive amounts if you are showing symptoms of lactose intolerance. Also beware sheep’s or goat’s milk, which many incorrectly believe to be lactose-free — they have almost as much lactose as cow’s milk! Soft, creamy cheeses are also high in lactose, but not as high as milk as the fermentation process does reduce the levels of lactose.
LACTASE AIDS DIGESTION
Some studies have linked dairy intake to increased BMI in lactose tolerant vs. intolerant individuals, even when overall caloric intake was identical. We know that lactase aids in the efficient nutrient absorption not only from dairy but also other ingested foods, and it is proposed that the observed difference may be a result of the intolerant individual’s inability to take advantage of the nutrients from food, leading to the malabsorption not only of lactose but also other ingested nutrients. However, overall impact on BMI was small and the benefits gained from consuming dairy outweighs the potential disadvantages of taking up more of the calories from food!
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MSTN INTRODUCTION
Skeletal muscle growth in response to training is determined by genetics, and a rare version of the MSTN gene, which encodes the muscle-limiting protein myostatin, is associated with much greater muscle mass and strength. Your FitnessGenes result tells you which version of this gene you have and how this affects muscle building in response to training.YOUR PERSONAL ANALYSIS
WHAT THIS MEANS FOR YOU
You have two copies of the K allele, which is associated with normal baseline levels of myostatin. This is easily the most prevalent genotype for the K153R genetic variation we test for. Over 87% of the population carries this combination of alleles.
Published data on the myostatin K153R genetic variation and muscle strength have yielded controversial results, almost certainly due to inter-ethnic and gender differences, and the very low frequency of the R allele. Being so rare, it is difficult to study in significant enough numbers.
ARE YOU A MYOSTATIN KNOCKOUT MUTANT?
We can confirm that you don’t have the genotype for the myostatin knockout gene that gives you huge muscles without any training effort. We guess you already knew this! (Yep, I work hard for my results!)
LATEST RESEARCH
Much of the research conducted to date has looked at the effect of the K153R variation in the elderly, as myostatin is known to increase with age and it is believed to be one of the strongest candidates to explain the variation among muscle phenotypes in this group. Loss of strength and muscle mass in the elderly are among the most common changes in body composition that can occur with ageing. Strength training has been shown to be a safe and effective intervention for counteracting these detrimental changes and also has positive effects on risk factors for cardiovascular disorders, cancer, diabetes and osteoporosis.
IMPACT ON MUSCLE MASS
Of the studies that have been conducted, it is the less common R allele that has been found to be associated with increased muscle volume in females and strength and muscle size in African-Americans in response to strength training. Recently, a study in Han Chinese men also found a significantly higher increase in the thickness of both biceps and quadriceps after an 8-week training program in those carrying an R allele than those who were KK.
However, there have also been studies where no obvious association has been observed and, counter-intuitively, studies that show an association of the KK genotype with greater strength and muscle mass in elderly women.
TENDON STIFFNESS
Interestingly, and demonstrating once again that there is a trade-off in physiological traits, carriers of the KK genotype were seen to outperform R allele carriers in vertical jump tests (a measure of explosive power), at least in untrained individuals.
Myostatin-deficient mice have been shown to have up to 14-times higher tendon stiffness than normal mice, suggesting myostatin may have a role in tendon structure. As the elastic properties of tendons can also influence jump ability, it is possible that the R allele variation is somehow impacting on the ability of myostatin to carry out its normal function in this capacity.
THE RESEARCH STATUS QUO
Undoubtedly, much more research is required to work out the relationship between this particular genetic variation and myostatin, especially in terms of how it impacts people at different stages of life. It is possible that future research will continue to support a small advantage to carrying the R allele in terms of baseline strength and strength training response in young adults and maybe even explain why this seems to invert with age.
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PGC1A INTRODUCTION
As well as being a marker for good health, having a high aerobic capacity enables your body to work harder during prolonged exercise. Some of us are lucky enough to have a naturally high aerobic capacity due to our genes. A variation in the PGC1A gene is associated with greater baseline aerobic fitness. Your FitnessGenes result tells you which version of this gene you have and how it affects you.YOUR PERSONAL ANALYSIS
WHAT THIS MEANS FOR YOU
The G allele has been consistently found to be associated with elite endurance athletic status and, as a result, is considered to be a beneficial factor for endurance performance. The GG genotype is considered the optimal genotype for endurance athletes.
Having two copies of the G allele for PGC1A means you are likely to have higher baseline levels of PGC1A protein and irisin on average. PGC1A protein is associated with predominance of the more aerobic-friendly slow-twitch muscle fibres, conversion of muscle fibres from fast-twitch to slow-twitch and also the generation of new mitochondria (the energy producers of the cell). The presence of more PGC1A protein has also been linked to higher rates of new blood vessel production (angiogenesis). Finally, PGC1A protein is associated with an improved ability to resist inflammation and oxidative damage.
As a result, carriers of the G allele tend to have improved aerobic capacity overall and greater baseline fitness than non-carriers.
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PPARA INTRODUCTION
The ability to switch from carbohydrate burning to fat burning combined with the distribution of fast and slow twitch muscle fibres are both important factors affecting endurance performance. Your FitnessGenes result tells you whether you have a version of PPARA that is predominant in endurance athletes, power/speed athletes or both.YOUR PERSONAL ANALYSIS
WHAT THIS MEANS FOR YOU
The G allele has been continually found more often in elite endurance athletes than would be expected by chance. As a result, the G allele is believed to convey an advantage in endurance-orientated activities.
Evidence suggests GG genotype individuals like you have higher levels of PPARA protein in their skeletal muscles. As PPARA turns on genes that shift our metabolism from carbohydrate burning to the more energy-efficient source of fat, this genotype is perfect for those undertaking endurance-oriented activities.
GG individuals also tend to have a significantly higher percentage of fatigue-resistant slow-twitch muscles than CG or CC types, which are essential for good endurance performance.
This is the most common genotype seen in the UK, with around 64% of individuals of European origin possessing it. It is much less commonly seen in individuals of African ancestry, at frequencies of around 13%. However it appears to be nearly fixed in East Asian populations, observed over 99% of the time.
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UCP2 INTRODUCTION
One mechanism of fat loss is through the generation of heat by the body. There are small molecules in fat and muscle cells which are responsible for this and affect the body’s metabolism. Your FitnessGenes result tells you which version of this molecule you have and how you can expect it to affect your metabolism.YOUR PERSONAL ANALYSIS
WHAT THIS MEANS FOR YOU
You have two copies of the ‘fast metabolism’ A allele. Individuals with this genotype have been observed to have a higher metabolic rate on average and a lower metabolic efficiency than V allele carriers.
Research has consistently shown that top-class endurance athletes tend to have more copies of the V allele than would be expected by chance. As a result, it seems those with the AA genotype are at a minor disadvantage when it comes to endurance activities.
This is proposed to be due to AA carriers exhibiting a greater level of ‘uncoupling’ - a process that controls how much energy, in the form of ATP, we can produce from the food we eat. Instead of a molecule of ATP being created, the ‘uncoupling’ causes the energy to dissipate and be lost as heat instead.
Having a high metabolic rate results in more calories burned within a given time period, particularly if combined with exercise. As you burn through your energy sources faster making less ‘muscle-fuelling’ ATP in the process, there is some limited evidence that you are at less risk of weight gain, although this only becomes significant if you maintain a healthy level of physical activity.
A high level of uncoupling may be an evolutionary advantage in colder, northern climates as the additional heat produced by the uncoupling process can keep us warm.
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HERC2
A GENE FOR EYE COLOUR
Eye, hair and skin colour vary around the world because of the production of a pigment called melanin. One gene in particular, HERC2, is one of the genes responsible for melanin production and its effect can be seen directly from your eye colour. Your FitnessGenes result tells you which version of this gene you carry and what level of melanin you are likely to produce as a result.
YOUR RESULT: GG
You have two copies of the ‘blue eye’ G allele.
Associated with lower levels of melanin on average, this genotype gives you on average an 84% chance of blue eyes, 15% chance of green eyes and less than 1% chance of brown eyes.
(I think my two blue eyed children are proof enough)
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INTRODUCTION
YOUR PERSONAL ANALYSIS
WHAT THIS MEANS FOR YOU
Based on available genetic data, you are at relatively MEDIUM to HIGH risk of elevated homocysteine levels as a result of reduced enzyme activity in the folate and methionine cycles.
As you carry the CC version of the MTHFR A1298C gene, you may have reduced ability to convert folate to its active form. This means it is particularly important for you to ensure you are getting enough folate and essential B vitamins in your diet, and as a result you may benefit from taking folate supplements to reach the recommended daily intake of 0.4mg. For women, this is especially important if you are pregnant or trying to conceive, when 0.6 - 0.8mg of folic acid is recommended to ensure you are consuming enough to protect against certain birth defects.
As we cannot synthesize folate in our bodies we need a constant supply in our diet to prevent any deficiencies. Make sure you include plenty of folate-rich food in your regular meals such as leafy greens, citrus fruit, beans and pulses to avoid high homocysteine levels. There is no need to worry if you don’t get your full intake on a daily basis however. Even with a complete lack of dietary folate it can take months before a deficiency develops as normal individuals have about 500–20,000 µg of folate in body stores.
If you do decide to take supplements, L-methylfolate is recommended. L-methyfolate is a more bioavailable form of folate than regular folic acid, and has been shown to be just as effective at increasing plasma levels of folate and decreasing homocysteine. L-methylfolate can occasionally cause some minor side effects, so ensure you introduce it into your diet gradually and at low doses.
Based on your results, you may also benefit from betaine supplementation at a dosage of 1.5g twice daily pre- and post-workout to balance the effects of any reduced efficiency in your MTR and MTRR enzymes. This will have the effect of lowering homocysteine levels as well as potential performance benefits. Research suggests that choline can be a viable alternative to betaine, so if you take choline in your supplement stack already, you probably don’t need to supplement with betaine too.
B-vitamins such as B2, B6 and B12 are also important co-factors, so ensure you’re achieving your recommended daily intake, and if this is unlikely (for example if you are vegetarian or vegan) make sure you take a good quality supplement.
It is important to remember that homocysteine levels can also increase with age, being a heavy smoker or drinker or being overweight.
Finally, if it is an option for you, it may be beneficial to undergo private blood testing to determine your actual current levels of homocysteine, as many people with mild or moderate homocysteine elevation will see few symptoms. This will enable you to better determine if supplementation may be required and, with follow up testing, whether it is having the desired effect of reducing your overall levels of homocysteine.
YOUR GENOTYPE
MTHFR: CC
You carry the MTHFR CC genotype. MTHFR is an enzyme that converts dietary folate or folic acid to the active form so it can be used by your body. It is the C allele of this gene that is linked to a reduced ability to convert folate to its active form, which may lead to elevated homocysteine levels. One particular study observed that individuals with two copies of the C allele (CC) showed a reduction of 35-45% in MTHFR enzyme activity. As you carry two copies of the C allele you may have reduced ability to convert folate into its active form, although this relatively common variant does not on its own appear to pose too much concern unless there are other genetic variants present.
MTR: AA
You carry the MTR AA genotype. MTR is an enzyme that helps convert the non-essential amino acid homocysteine to the essential amino acid methionine. For this reason, MTR is key to maintaining low levels of circulating homocysteine. This is important because high levels of homocysteine are potentially toxic to certain cell types and are associated with multiple health problems. The rarer G allele of this particular genetic variant was initially thought to be associated with lower enzyme activity than the AA genotype. However, in subsequent investigations, studies suggested that this relationship might actually be reversed and the A allele is more accurately associated with elevated homocysteine levels and reduced DNA methylation as a result. As you carry two copies of the A allele you may have reduced ability to convert homocysteine to methionine.
MTRR: GG
You carry the MTRR GG genotype. MTRR is an enzyme that is necessary for the activation of MTR in the methionine cycle, and it is therefore also important in the maintenance of low levels of homocysteine. Individuals with the G allele version of this gene may have a lesser ability to generate methionine as a result of decreased MTRR enzyme activity. This could lead to increased homocysteine levels, although this appears to be more significant when found in combination with other MTHFR and MTR genetic variants. As you carry the GG genotype, you may have reduced ability to convert homocysteine to methionine as a result of reduced MTRR enzyme function.
(Wow, I really got the shitty end of the stick here)
NUTRITION FIRST
Unsurprisingly, the best source of folate is through natural foods. Studies have shown that high synthetic folic acid supplementation without a deficiency can cause adverse effects. This is because the intestinal cells are limited in how much folic acid they can modify and unmodified folic acid circulating in the blood may have a detrimental effect. In comparison, high intakes of folate from food sources have not been reported to cause adverse effects.
FOODS ENRICHED IN FOLATE
Folate is naturally found in leafy green vegetables such as spinach and lettuce as well as other green veg including asparagus, cauliflower, avocado and broccoli. You’ll also find it in beans and pulses such as lentils and chickpeas, nuts and seeds and citrus fruits such as orange and grapefruit. A general rule is that the lower the water content in the vegetable, the higher the folate concentration. Folate concentration in fruit is generally less compared to vegetables. Folate can be lost during the cooking process, so how you prepare your food is also important. Boiling is not ideal: boiling for 10 minutes and 3.5 minutes respectively led to a 56% reduction of folate content in broccoli and 51% reduction of folate in spinach. In contrast, steaming the veg led to no significant change.
In terms of reaching your daily recommended intake, it is worth bearing in mind that many processed foods like cereals are fortified with folic acid. You’ll also find folic acid added to enriched grain products such as bread and pasta. In the US, this mandatory food fortification came about in 1998 with the overwhelming evidence that folic acid before conception and during early pregnancy helped protect newborns against neural tube defects.
FOLIC ACID OR L-METHYLFOLATE?
If you do decide to supplement your natural folate levels, should you choose folic acid or would the less well-known L-methylfolate be a better choice?
L-methylfolate is the bioavailable form of folic acid. In other words, if you take folic acid, for it to be effective it must be converted in your body to L-methylfolate, the biologically active form of folate. Your body converts folic acid (and indeed dietary folate) to active folate (L-methylfolate) through a series of enzymatic reactions. Taking the bioavailable form of folic acid guarantees that adequate amounts are being provided, even when the efficiency of the MTHFR enzyme is reduced.
L-methylfolate has been shown in studies to be just as effective as folic acid for increasing plasma levels of folate and decreasing homocysteine. It has also been shown to have advantages over folic acid in pregnant women in terms of being associated with lower incidence of anemia. As a result, the research suggests that L-methylfolate can safely be taken in preference to folic acid in terms of supplementation.
HOW TO TAKE L-METHYLFOLATE
L-methylfolate should be introduced to your routine slowly and gradually increased, so as to reduce the chance of any potential side effects. While many people report feeling physical improvements almost immediately, L-methylfolate has also been linked with a number of side effects including mood changes (irritability, anxiety and depression) and physical symptoms including sore muscles, headaches and nausea amongst others.
Start with a reduced dose of around 400µg and build up gradually to 1000µg over a period of time, while looking out for potential side effects. If you do experience any side effects, either reduce the dose accordingly or if you are still seeing symptoms, discontinue use altogether.
Some proponents of L-methylfolate have reported that pulsing your dose i.e. taking it on alternate days, or taking short breaks from it, can help with reducing the possibility of side effects.
THE IMPORTANCE OF VITAMIN B12
Vitamin B12, also called cobalamin, is a B vitamin that the body needs in small amounts to stay healthy. It has several important functions including making red blood cells, keeping the nervous system healthy, releasing energy from the food we eat and, of course, processing folate.
Vitamin B12 is an important co-factor for converting homocysteine to methionine. As a result, even in the presence of high levels of folate, vitamin B12 deficiency can be a common cause of anemia and elevated serum homocysteine levels. This is especially so in the elderly. As the MTR enzyme requires both folate and vitamin B12 to carry out its role properly, this explains why a single deficiency of either folate or vitamin B12 can lead to the same abnormalities. As a result it is equally important to ensure you get enough vitamin B12 in your diet as well as folate.
Good sources of vitamin B12 include liver, meat, eggs, poultry, shellfish, milk and cheese. We only need this vitamin in small amounts; if you eat meat, fish or dairy products then you should get enough vitamin B12 through your diet, as adults only need around 0.0015mg a day. However, as it is not found naturally in foods such as fruits, vegetables and grains, vegetarians and vegans may not get enough of this vitamin and may need to consider supplementing. As a result, those of us who are on a strict vegetarian diet or are over 50 should consider taking a vitamin B12 supplement, rather than attempting to get vitamin B12 strictly from dietary sources.
WHICH FORM OF VITAMIN B12 SHOULD I CHOOSE?
The most common form of vitamin B12 supplement that you’re likely to come across is cyano-B12, or cyanocobalamin. There is some limited evidence to suggest that a more effective way to supplement with vitamin B12 is through an alternative bioactive form, called methyl-B12, or methylcobalamin. Despite this, cyano-B12 has been shown to be effective in reducing homocysteine levels and for the majority of people this more affordable supplement is likely to be adequate.
BETAINE – AN ALTERNATIVE TO FOLIC ACID?
Betaine is the name more commonly used to refer to the compound trimethylglycine, or TMG for short. So-named as it was first isolated from sugar beets, structurally it is simply the amino acid glycine with three methyl groups attached to it.
Supplementation of betaine in healthy adults has been shown to be safely and reliably associated with reductions in plasma homocysteine levels when taken at 3g daily or more. It has been approved by the FDA for the treatment of abnormally high homocysteine levels. This reduction in homocysteine is maintained for as long as supplementation is continued, with the magnitude being around 10% in persons with normal homocysteine levels and 20-40% in persons with elevated homocysteine levels. Betaine has this effect by providing an alternative pathway in the methionine cycle when active folate is low, converting homocysteine to methionine in the event of a reduction in the efficiency of the MTR and MTRR enzymes.
As you carry a number of genetic variants associated with reduced efficiency of the methionine cycle, you may benefit from supplementation with betaine at a dosage of 1.5g twice daily pre- and post-workout.
Betaine can be provided through diet as well as supplementation: quinoa, wheat products, spinach and beets are all good sources of betaine. There is even some limited evidence that dietary betaine is more effective at lowering homocysteine levels than supplementary betaine, and as a result, lower overall doses are required to achieve an equivalent reduction in homocysteine levels.
BETAINE IN SPORTS PERFORMANCE
As a performance-enhancing compound, betaine has more mixed reviews. It has been linked to increased power output (which could not be repeated in other studies) and also minor increases in workout volume and endurance. One study showed that supplementation with 1.25g of betaine twice per day increased muscle mass by 4 pounds and arm size by 10 percent, while body fat decreased by 7 percent. However, when betaine was supplemented alongside the well renowned performance enhancer creatine, it did not appear to provide any additional benefit that was not seen with creatine alone.
In summary, the overall effect size does seem to be quite small, and of note, currently all studies finding sports performance benefits with betaine supplementation have been associated with DuPont Nutrition, a producer of betaine.
CHOLINE OR CREATINE – PRACTICAL ALTERNATIVES TO BETAINE?
Choline, found in high amounts in egg yolk, liver and peanuts, is a precursor to betaine. Some sources suggest it can be used as a cheaper alternative for lowering homocysteine levels, as well as providing additional health-related benefits such as optimal brain development and cognitive function. Research to date supports the intake of choline being associated with an increase in plasma betaine levels at equal potency to an equivalent amount of betaine. While research is limited, at least one paper also noted that 2.6g of choline, supplemented as phosphatidylcholine, lowered plasma homocysteine concentrations in healthy men with mildly elevated levels.
Another potential supplement of interest to keep an eye on in this regard is creatine. Creatine has been shown in at least one study to normalise homocysteine levels in an affected individual after 30 days supplementation, and of course it also has many other positive effects, being linked to increased power and strength in multiple studies. Another study examining a group of young, healthy men who were supplemented with creatine over an 8-week resistance training protocol found it to again be associated with significantly lower homocysteine levels versus a placebo control. However it has also been associated with mildly increased homocysteine levels in another study, so the research in this regard, while potentially very interesting, is still inconclusive at present.
In conclusion, if you take choline in your supplement stack already, you probably don’t also need to supplement with betaine too.
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APOA5 INTRODUCTION
The APOA5 gene codes for the APOA5 molecule. This molecule plays an important role in regulating blood triglyceride levels.
FitnessGenes test for two variations of the APOA5 gene which affect levels of the APOA5 molecule in the blood and suggest some dietary choices to control blood triglyceride levels.
YOUR PERSONAL ANALYSIS
Although no scientific association has been made between your genotype (AA - average triglyceride levels) polyunsaturated fat intake and higher blood triglyceride levels, it is generally recommended that you don't over consume polyunsaturated fats and try to balance this with consuming more omega-3 fats.
The ideal ratio of omega-6 to omega-3 in a diet is 1:1. However, those on a typical western diet consume a ratio of omega-6 to omega-3 that is between 20:1 and 50:1. For most people, consuming a 1:1 ratio can be difficult, therefore a reduction in omega-6 and increase in omega-3 is generally recommended to help improve this ratio.
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INTRODUCTION
Sleep duration and quality can affect many things, including muscle recovery, muscle building, weight loss, athletic performance, learning and cognition. Many gene variants have been reported to affect the sleep cycle or the circadian clock. At FitnessGenes, we test for the Circadian Locomotor Output Cycles Kaput (Clock) gene. Your result tells you whether you do or don't carry any genetic variants associated with a disturbed circadian rhythm and whether you are likely to be a night owl, morning lark or somewhere in between.
YOUR PERSONAL ANALYSIS
YOUR PERSONAL ANALYSIS
Your score shows that you have a moderate likelihood of sleep disturbance. As sleep is very important in muscle recovery, it is important to maintain a healthy regular sleeping pattern. You may find the following advice useful in ensuring optimal sleep quality:
Allow natural awakening to occur if at all possible i.e without the use of an alarm clock, and sleep should be taken in an optimal environment (dark, quiet, comfortable temperature).
Napping in the middle of the day has been shown to be beneficial for performance in the subsequent afternoon. An afternoon power nap for 10-20 minutes is a good way to recharge after sleep restriction.
Light is one of the most important external factors that can affect sleep. Since the invention of the electric light bulb in the late 19th century, humans have been exposed to more light at night time. Avoid light exposure at night time from sources such as the TV, mobile phone and computer screen.
Background noises should be limited as increased frequency of awakening may prevent transitions to the deeper stages of non-rapid eye movement sleep (NREM).
Maintaining a comfortable temperature in the room. Between 15.6 and 19.4 º C is generally considered optimal.
Consuming caffeine within 6 hours of bedtime could potentially affect your sleep, so avoid any caffeinated beverages in the evening. Check your FitnessGenes caffeine (CYP1A2) result for more details.
Stress can induce your body to release hormones that keep you awake, so keeping your stress levels controlled will help you establish a beneficial sleep pattern.
Smoking negatively affects sleep, which will impact your recovery and affect your muscle building goals.
Training & Exercise
Regular exercise may be a non-pharmaceutical way to improve sleep quality. Moderate intensity exercise 3 times a week has been linked to improved sleep. Those who are intermediate between early birds and night owls (and who, on average, spontaneously wake up just before 8 am) peak at around 4 pm, and this is when you may have peak muscle performance. In comparison, a typical night owl (waking up at just before 10 am) peaks at around 8 pm. Depending on your usual sleep patterns, aiming to train at your peak time may be beneficial. For many athletes, major matches are often in the late afternoon/evening time so training at a similar time may be beneficial.
If training during the late afternoon/ evening is not possible, then using caffeine (3 mg per kg body weight) before your early morning training can boost your performance to afternoon levels. Research has also shown that if you consistently train at a certain time of the day, your body will eventually adapt and perform best at that time. Training should fit in with your sleep routine, make sure you do not do intense training close to bedtime.
Jet lag
On average, your body takes about 1 day to adjust for every time zone you cross. If you have an event or a competition, it is worth noting that eastbound travel takes longer to adjust compared to westbound travel, so it will be good to arrive days in advance of the event to allow your body to adjust.
Your equivalent to breakfast, lunch and dinner (light and heavy meals) should be adjusted to the time zone of the place you are travelling to.
Dietary considerations
Your genotype indicates that it is particularly important for you to keep your saturated fatty acid (SFA) intake under 11.8% of daily energy to avoid excess weight gain. Too much SFA in your diet can be harmful; in the FitnessGenes Muscle-Building System or Fat-Loss System nutrition plan, we recommend that saturated fats do not make up more than 20% of your total calorie intake.
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AKT1 INTRODUCTION
The AKT1 gene codes for an enzyme related to muscle building and metabolism. Some of us carry a particular version of this gene that is linked to better resting metabolic factors and greater increases in VO2 max in response to aerobic exercise. Your FitnessGenes result tells you which version of this gene you carry.YOUR PERSONAL ANALYSIS
Those who carry a T allele generally have a lower % body fat than non-carriers, and also lower triglyceride, fasting glucose and insulin levels. This is possibly due to a reduced expression of AKT1, most abundantly seen within fat cells (adipocytes). Lower levels of AKT1 are believed to reduce the risk of obesity, metabolic syndrome and diabetes. However, a good diet and healthy lifestyle are still required in order to benefit from the protective effect of the T allele; an unhealthy diet will override any benefits of being a T allele carrier. Therefore, you should maintain adequate levels of physical activity and consume a healthy, balanced diet.
Interestingly, while the T allele appears to inhibit transcription production of AKT1 in fat cells, it seems to enhance transcription in muscle cells, suggesting it has tissue-specific effects. In response to training, carriers of the T allele have been observed to experience greater increases in VO2 max than non-carriers, a factor beneficial to endurance performance. In addition, there is some limited evidence that carrying a copy of the G allele can be linked to greater strength gains. As you carry one of each of these alleles, it’s likely you will experience moderate benefits from both endurance and resistance training.
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VEGFA INTRODUCTION
We test for a variation of the VEGFA gene linked to levels of the VEGFA molecule in the blood. This molecule is involved in forming new blood vessels as an adaptation to training. These new blood vessels increase the blood supply to muscles, which can improve endurance. FitnessGenes tell you whether you have a version of this gene that has been associated with endurance.YOUR PERSONAL ANALYSIS
You have one copy of the VEGFA C allele which was found to be more common in endurance athletes, as well as one copy of the G allele.
While the exact biological effect of this variation in endurance athletes is still being investigated, it is speculated that the C allele may cause an increase in the number of blood vessels supplying exercised muscles, as well as improving vasodilation (increased blood flow) leading to enhanced endurance performance.
More research is needed to understand the full impact of this genetic variation, but this is one of many genes we test that can influence your endurance potential.
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VEGFA INTRODUCTION
We test for a variation of the VEGFA gene linked to levels of the VEGFA molecule in the blood. This molecule is involved in forming new blood vessels as an adaptation to training. These new blood vessels increase the blood supply to muscles, which can improve endurance. FitnessGenes tell you whether you have a version of this gene that has been associated with endurance.YOUR PERSONAL ANALYSIS
You have one copy of the VEGFA C allele which was found to be more common in endurance athletes, as well as one copy of the G allele.
While the exact biological effect of this variation in endurance athletes is still being investigated, it is speculated that the C allele may cause an increase in the number of blood vessels supplying exercised muscles, as well as improving vasodilation (increased blood flow) leading to enhanced endurance performance.
More research is needed to understand the full impact of this genetic variation, but this is one of many genes we test that can influence your endurance potential.
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CKM INTRODUCTION
Creatine kinase, encoded by the CKM gene, is an enzyme which influences the energy systems used in your cells. Your FitnessGenes result tells you whether you carry a CKM genotype that is found more commonly in endurance or strength athletes. CKM levels are also related to the ability to process oxygen which is important for speed and endurance.YOUR PERSONAL ANALYSIS
You have two copies of the allele that was found more frequently in endurance athletes, and related to an increased VO2 max in response to endurance training.
Several studies, but not all, indicated that the VO2max of carriers of your CKM genotype was higher for untrained individuals, and increased more in response to a standardized endurance training program compared to other genotypes. Your version of the CKM genotype may potentially lead to a higher activation of the energy/ Adenosine Triphosphate(ATP) producing system that runs on oxygen, explaining the improvement in VO2 max.
Amongst Caucasian athletes, a study showed that your genotype (TT) and the CT genotype were significantly over-represented in endurance athletes (biathletes, cross-country skiers, Nordiccombined athletes, all-round speed skaters).
Creatine kinase is necessary for short, intense, bursts of activity as it quickly supplies ATP for muscle contractions. ATP is the fuel for all processes in muscle fibres.
The phosphagen system (see ‘Learn more about CKM’ below) enables the storage of energy (in the form of ATP) by using creatine in a molecule called phosphocreatine. This can quickly provide the muscle cell with energy for short, intense exercise.
It has been suggested that different CKM genotypes have different expression and activity levels of creatine kinase. This may influence how fast, and to what extent, different energy systems (other than the phosphagen systems) such as the oxygen consuming energy system, are used. Your CKM genotype has been related to an improved ability to produce energy using the oxygen consuming system, which is beneficial for endurance based sports, although the exact mechanisms are not yet completely understood.
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