Recent advances in sports science are revealing the relationship between genes and athletic performance. The use of genetic testing is expected to optimize performance by enabling training and competition selection based on individual genetic characteristics. This article details the major genes that influence athletic performance, the use of genetic testing, and its ethical aspects.
Key genes associated with athletic performance
ACTN3 gene
The ACTN3 gene is involved in the production of alpha-actinin 3, a protein found in the fast-twitch muscle fibers of muscles. There are three variants of this gene: RR-type, RX-type, and XX-type. People with the RR and RX types have superior instantaneous force and are suitable for power sports such as short-distance running and weightlifting. On the other hand, people with type XX lack alpha-actinin 3 and are considered suitable for sports that require endurance.
ACE gene
The ACE gene codes for the production of angiotensin-converting enzyme, which is involved in regulating blood pressure and fluid balance. The insertion (I)/deletion (D) polymorphism of this gene is said to affect endurance and muscle strength. In particular, it has been reported that people with type I tend to have superior endurance, while people with type D tend to have superior muscle strength and power.
PIEZO1 gene
The PIEZO1 gene encodes an ion channel that senses mechanical stimulation of cells. Studies have shown that mice with certain mutations in PIEZO1 have improved jumping and running speed and have enlarged tendon tissue. It has also been reported that the PIEZO1 mutation found in people of West African descent is more prevalent in Jamaican sprinters.
How to use genetic testing
By utilizing genetic testing, it is possible to design training programs based on individual genetic characteristics and select appropriate sports. For example, training that utilizes explosive power is effective for people with RR type ACTN3 genes, while training that emphasizes endurance is suitable for people with XX type ACTN3 genes. It is also possible to determine aptitude for endurance and power sports depending on the type of ACE gene.
It is also expected that genetic testing will be able to predict injury risk and take preventative measures. For example, people with a genotype related to flexibility may be able to reduce their risk of injury by focusing on stretching and flexibility training.
The relationship between genes and energy metabolism
Muscle energy metabolism is important for maximizing athletic performance. Genes have a significant effect on energy production efficiency and fatigue recovery, so they can be used to plan appropriate nutrition and training.
The AMPD1 gene and muscle fatigue
The AMPD1 (adenosine monophosphate deaminase 1) gene is involved in muscle energy metabolism and helps regenerate ATP (adenosine triphosphate). People with a mutation in this gene may experience slower ATP resynthesis during exercise and faster muscle fatigue.
Research suggests that people with the AMPD1 mutation (C34T polymorphism) are better suited to short, high-intensity exercise than endurance sports. Genetic testing can help you understand your own energy metabolism characteristics and tailor your training plan.
PPARα gene and fat burning
The PPARα (peroxisome proliferator-activated receptor alpha) gene promotes fat metabolism. People with high PPARα activity are better suited to endurance exercise because they can use fat efficiently as an energy source.
Genetic studies of marathon runners and triathletes have shown that many of them have certain mutations in the PPARα gene. By utilizing genetic testing and incorporating diet plans and training methods that maximize lipid metabolism, it becomes easier to maintain performance even during long periods of exercise.
The relationship between genes and resilience
Proper recovery is essential to maximise the benefits of training, and because genes influence how quickly muscles repair and respond to inflammation, it is important to tailor your recovery strategy to suit your needs.
IL6 gene and inflammatory response
The IL6 (interleukin 6) gene controls the production of cytokines that regulate the inflammatory response after exercise. People with certain variants of the IL6 gene may be more susceptible to prolonged inflammation and delayed muscle recovery.
People with high levels of IL6 secretion can prevent the accumulation of fatigue by actively consuming foods with anti-inflammatory properties (omega-3 fatty acids, vitamin C, polyphenols) and incorporating a training plan that focuses on recovery.
The COL5A1 gene and plasticity
The COL5A1 (collagen type V alpha 1) gene influences the flexibility of joints and ligaments. People with certain variants of this gene tend to have reduced range of motion in their joints and increased stiffness in their muscles and ligaments.
For athletes, maintaining proper flexibility is important for preventing injuries. If your joints are inflexible due to the influence of the COL5A1 gene, you can reduce your risk of injury by actively incorporating flexibility-improving training such as stretching and yoga.
Gene-Based Personalized Training
Using information from genetic testing, we can create an individualized training plan.
Genotype-specific training examples
Gene
Characteristics
Recommended Training
ACTN3 (XX type)
High explosive power
Sprinting, weightlifting, sprint training
ACTN3（XX type）
High endurance
Long distance running, marathon, endurance training
ACE（D type）
High muscle strength
Weight training and explosive movement
ACE（type I）
High endurance
Aerobic exercise, triathlon
COL5A1 (low flexibility）
Stiff joints
Stretching, yoga and dynamic flexibility training
IL6（strong inflammatory response）
Slow muscle recovery
Low-intensity training, recovery-focused plan
In this way, by utilizing genetic information, it is possible to create training strategies that are tailored to each individual’s physical constitution.
Limitations of genetic testing and future prospects
Although genetic testing is a useful tool to improve understanding of athletic performance, complete reliance on it is not recommended.
Interaction with environmental factors
It is said that genes are responsible for more than 50% of athletic ability, while the remaining 50% depends on environmental factors such as training, diet, and motivation. Even in sports that are deemed unsuitable for genetically, it is entirely possible to achieve results with proper training and effort.
Evolution of technology and improvement of precision
Current genetic testing focuses on analyzing specific gene mutations, but in the future, it is believed that by combining it with AI technology, it will be possible to make more precise predictions of athletic ability. For example, it is possible that a system will be developed that integrates multiple genes and environmental data to automatically design optimal training programs for each individual.
Genetics and athletic aptitude
Using genetic information, we can more accurately determine individual athletic aptitude and help athletes select the sports in which they can best perform.
Sports aptitude by genotype
遺伝子
Competitiveness
ACTN3（RR type）
Sprinting, sprinting, weightlifting
ACTN3（XX type）
Long distance running, triathlon, soccer
ACE（D type）
Rugby, American football, bodybuilding
ACE（type I）
Marathon, cycling, swimming
PPARα（active type）
Long-distance endurance events (such as ultramarathons)
COL5A1（stiff joints）
Martial arts, weight training
COL5A1（flexible joints）
Gymnastics, ballet, yoga
Issues in determining competitive fitness
Although genetic aptitude assessment is useful, not all athletes will be successful in sports based on their genetic characteristics. For example, even if you do not have the RR type of ACTN3, which is suitable for short-distance running, there are many cases where you can become a top athlete through appropriate training and technical improvement.
The relationship between genes and mental factors
Success in sports depends not only on physical ability, but also on mental toughness. Some genes may affect stress tolerance and concentration, which may affect athletic performance.
The COMT gene and pressure tolerance
The COMT (catechol-O-methyltransferase) gene is involved in the breakdown of dopamine and affects stress resistance. There are two variants of this gene, “Met type” and “Val type,” each of which has the following characteristics:
Met type (slow dopamine breakdown) → High concentration, but weak under pressure
Val type (fast dopamine breakdown) → High stress resistance, but slightly lower concentration during normal times
In sports competitions, mental stability during the actual game can determine the outcome. Understanding your stress tolerance through genetic testing and incorporating mental training accordingly can improve your performance during competitions.
The DRD4 gene and risk preferences
The DRD4 (dopamine receptor D4) gene is associated with risk appetite. People with certain mutations in this gene tend to enjoy new challenges and are more likely to take risks.
Risk-taker – Suitable for adrenaline sports such as surfing, skydiving, and F1 racing
Cautious type → Good for strategic sports such as golf, archery, and shogi
Different sports require different mental qualities, so information from genetic testing can help people choose the sport that’s right for them.
The latest sports technology using genetic data
As genetic research advances, the field of sports science is introducing cutting-edge technologies that utilize genetic data.
1. Improving performance through AI and genetic analysis
By combining AI technology with genetic analysis, systems are being developed to optimize athletes’ performance. For example, technology is being developed that uses AI to integrate an athlete’s genetic information, training data, and dietary records to suggest the most effective training menu.
② Gene-based supplement development
There are also an increasing number of services that suggest optimal nutritional supplements for individual athletes based on genetic information. For example, supplements containing ingredients that increase the expression of the BDNF (brain-derived neurotrophic factor) gene may help improve concentration and recover from fatigue.
3) Gene editing technology and sports ethics
With the development of genome editing technology (CRISPR-Cas9), it will theoretically be possible to genetically improve athletic performance. However, due to ethical issues, gene editing is currently prohibited in the sports world.
The future of genetic testing and sports performance
Advances in genetic research are bringing about an era in which it is possible to more accurately evaluate individual athletic abilities and select appropriate training and sports.
① Gene x environment optimization
Genetic information is a powerful tool for understanding individual characteristics, but interactions with environmental factors are important. For example, even if you have the XX type (endurance type) of the ACTN3 gene, you can improve your explosive power by training fast-twitch muscles. Therefore, while genetic information can be used as a reference, ultimately, individual effort and experience have a major impact on sports performance.
② Popularization and generalization of genetic testing
Currently, genetic testing is mainly used by athletes and specialized institutions, but in the future it may become more common among general sports enthusiasts. For example, it may become possible to easily find out one’s athletic aptitude using commercially available genetic testing kits.
3) Dealing with ethical issues
While the use of genetic information is becoming more widespread, there are also concerns that athletes may be selected out based on their genetic characteristics. A balanced approach is needed that does not place too much emphasis on the results of genetic testing, but instead takes into account the importance of the environment and effort involved.
Genetic testing and training optimization
By utilizing genetic information, it is possible to select training methods suited to each individual’s constitution and efficiently improve performance. We will introduce specific examples of training that take into account the characteristics of each gene.
① Gene-specific training to improve explosive power
Type-specific training strategy for the ACTN3 gene
RR type (fast-twitch predominant）
In order to make the most of his explosive power, he focuses on heavy weight training and short distance sprints.
Since it is suitable for power exercise, it focuses on strength training with supplementary strengthening of endurance.
Recommended training: Sprints, heavy weight training, and jumping training.
The relationship between genes and risk of sports injuries
Managing the risk of injury is important for athletes, and genetic testing can be used to identify injury risks in advance and take preventative measures.
1) Risk of fractures and joint disorders
The COL1A1 gene and bone strength
The COL1A1 (collagen type I) gene is involved in bone strength, and people with certain variants are at increased risk of stress fractures.
Prevention measures : Take calcium and vitamin D, do not over-intensify training, and have regular bone density tests.
② Risk of ligament injury
The COL5A1 gene and plasticity
Variants in the COL5A1 gene affect the strength and flexibility of ligaments.
People with stiff ligaments are at higher risk of sprains, while people with loose ligaments are at higher risk of injury due to joint instability.
Prevention : Implement appropriate stretching and joint stabilization exercises.
3) Risk of muscle damage
IL6 gene and inflammatory response
People with certain mutations in the IL6 gene tend to experience prolonged inflammation after exercise and therefore require longer recovery periods.
Your genes affect your ability to metabolize nutrients differently, allowing you to tailor your diet to suit your individual needs.
① PPARα gene and lipid metabolism
Variants in the PPARα gene affect the ability to utilize lipids for energy.
For people with an activated PPARα gene , a high-fat, low-carbohydrate diet (ketogenic diet) is effective.
People with low activity PPARα gene → A carbohydrate-rich diet improves energy efficiency.
② MTHFR gene and folate metabolism
Mutations in the MTHFR gene result in reduced folate metabolism, affecting energy production and recovery.
Solution : Eat foods rich in folic acid, such as spinach and avocado, or take folic acid supplements.
Specific examples of using genetic information to improve performance
Genetic testing is not only useful for improving sports performance, but also enables optimization in all aspects of sports, including training, recovery, nutrition, etc. Here, we will introduce the latest examples of athletes and sports science that are actually using genetic information.
1. Olympic athletes and genetic testing
Some Olympic teams are experimenting with using genetic testing to customize training for their athletes.
Case Study: Sprinters
Sprinters who have been genetically determined to be **ACTN3 (RR type)** undergo training that makes maximum use of fast-twitch muscles .
Incorporate weightlifting for strength, neuromuscular training, and explosive movement drills.
Based on your genotype, set appropriate recovery periods to prevent overtraining.
Case Study: Marathon Runner
Long-distance runners who are determined to be **ACE (Type I)** undergo a program focused on improving their endurance .
Strengthen LSD training to improve aerobic capacity and interval training to activate mitochondrial function.
Be conscious of nutrition based on your genes (diet that promotes fat metabolism, foods with high antioxidant properties).
② University sports teams using genetic information
Genetic testing is also being introduced into college sports to improve athletes’ performance.
American college football teams have introduced genetic testing to evaluate players’ muscle strength and explosive power , and have established optimal training menus for each position.
A professional soccer club in Europe has created a stretching and recovery program using information on the COL5A1 and IL6 genes to manage the risk of injury .
Personalized sports programs using genetic testing
In recent years, genetic testing has become available not only to professional athletes but also to ordinary sports enthusiasts.
① Commercially available genetic testing kits
Many companies offer personalized sports genetic testing services , allowing you to find out your athletic aptitude for just a few tens of thousands of yen.
Examples of commonly analyzed genes
Gene
Function
How to use
ACTN3
Aptitude for explosiveness/endurance
Deciding whether it is suitable for short distance or long distance
ACE
Strength or endurance traits
Competition selection and training adjustment
COL5A1
Flexibility and ligament strength
Stretching plan to prevent injury
PPARα
Fat burning efficiency
Diet and energy management
② Linking with smartphone apps
Services are also now available that link genetic test results to an app, allowing you to receive optimal training plans and meal suggestions in real time.
Training optimization app : Suggests appropriate exercise intensity and rest time based on genotype.
Nutrition management app : Calculates optimal macronutrient balance based on genetic information.
The future and challenges of genetic testing
① Improving the accuracy of genetic data
Genetic testing technology is evolving rapidly, making it possible to predict athletic ability in greater detail. In the future, it is expected that performance prediction based on a combination of multiple genes , rather than just a single gene, will become common.
Multi-omics analysis : Training optimization that takes into account not only genetic information, but also gut bacteria, metabolic profile, and hormone balance.
Genetic analysis using AI : Utilizing big data, we create training models tailored to each individual’s constitution.
2) Ethical issues regarding genetic information
As genetic testing becomes more widespread, it raises questions about fairness and ethics in sports .
Risks of using genetic information to select athletes : Selecting athletes based on their genotypes could undermine fairness in sports.
Protection of privacy : Appropriate regulations are required to prevent the misuse of genetic information.
3) Gene editing and the future of sports
In the future, it may be technically possible to artificially enhance athletic performance using gene editing techniques (e.g., CRISPR-Cas9), but this would pose many ethical and regulatory challenges and require strict rules in the sports world.
Summary and Future Outlook
Genetic testing has great potential for improving sports performance and managing the risk of injury. It will enable training and nutritional management based on individual physical characteristics, and will be a valuable source of information for athletes and sports enthusiasts.
On the other hand, environmental factors and effort are also essential to success in sports, and genetic information alone cannot determine everything. It is important to consider the future of sports by appropriately utilizing scientific knowledge and taking ethical issues into consideration.
