Genetic Testing To Optimize Fitness

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Genetic Testing To Optimize Fitness


Jean-Marc Sobczyk, MD, ND



Our genes are in our chromosomes. They contain instructions on how to build every cell in our body. There are thousands of proteins coded by these genes. Each gene has a code (made of bases/ letters). The millions of possible variations that can occur makes your genetic code unique when compared to another individual. Our genetic code gives the instructions to make the proteins required for proper development and function.


All individuals have minor differences (variations) in their genetic code, these variations make each of us unique. A single base/letter change in a gene can totally modify the function of the genes. These single base changes are called variations or mutations also called SNiP (Single Nucleotide Polymorphism).

Genetic mutations can affect the biological pathway in which the gene is active, affecting functions that may play a role in maintaining a state of good health. Learning about our genetic variations may help us optimize our athletic performance by knowing our genetic predispositions.

Certain mutations can influence our athletic performance, ability to recover or predisposition to injury. By seeing what mutations we have this allows us to adjust, modify and improve our training and nutritional status to help achieve our performance goals.

Of course, you will never achieve your goal without proper training and practice but testing your genes can provide very useful information.

The current Genes listed below have been selected based on current peer-reviewed research and their contribution to an altered response to exercise. Mutations or the absence of mutations should not be considered as bad or good mutations but rather give us an indication of how our genes could influence our nutrition, lifestyle and exercise routine.








  • COL1A1 is one of the major collagens in connective tissues. A mutation of this gene can increase the risk for tendon and ligament injuries.
  • COL5A1 is another collagen gene that regulates the formation of new soft tissue fibers. A mutation of this gene can increase injury risk.
  • GDF5 plays a role in the development and healing of skeletal, joint, and soft tissues. This gene influences the ability to recover from tissue damage.






  • IL6 stimulates an immune response to strenuous exercise. Excess release of this cytokine can lead to a chronic inflammatory state. Individuals with a mutation may need longer recovery time.
  • IL6R this gene influences exercise induced fatigue and our ability to recover. A mutation of this gene increases the acute inflammatory effects of exercise.
  • CRP increases in response to inflammation and may activate activating your immune system. If you have a mutation of this gene, you may require longer recovery times between training sessions.
  • TNFA, like IL6, is a pro-inflammatory gene that stimulates the acute phase reaction of inflammation. Individuals with a mutation of this gene are likely to experience fatigue and delayed recovery time with exercise training.




  • SOD2 Intensive training results in oxidative stress and SOD2 is expressed to reduce muscular fatigue. Higher levels of oxidative stress are found in people with a mutation of this gene. Consuming a diet rich in anti-oxidant is the priority if you want to quench free radicals.
  • eNOS helps to regulate blood vessel constriction and resistance. Mutated eNOS gene decrease the activity of this enzyme and is associated with increased free radicals and oxidative stress.






  • AGT gene regulates electrolyte, body fluid balance and blood pressure. Mutation of the AGT gen can potentially lead to increased blood pressure and has been associated with greater power development.
  • ACE is key in blood pressure regulation and impacts aerobic capacity, muscular strength and lean body mass.
  • BDRKB2 is also involved in lowering blood pressure. A mutation of this gene allele is associated with greater vasodilation which is linked to greater muscle contraction efficiency, better aerobic exercise and endurance performance.
  • VEGF helps making new blood vessels and therefore influences blood flow and oxygen. Higher VEGF levels can lead to greater muscle efficiency with training and present an advantage for aerobic capacity and endurance performance.




  • NRF2 improves respiratory capacity and the rate of energy production during exercise. It is also important in the formation of mitochondria: the ‘power house’ of the cell where energy is produced. NRF2 mutation has been associated with elite endurance performance and 50-60% greater improvements in VO2max with endurance training. Unfortunately, this beneficial mutation is extremely rare.
  • PPARGC1A plays an essential role in energy regulation and promotes the formation of new mitochondria in response to aerobic training.
  • PPARA allow our body to use fatty acids to make ATP – the main source of energy during exercise. Mutations of this gene can be either associated with greater aerobic capacity and significantly higher slow twitch muscle fiber specialization or associated with the ability to build more muscle mass and have greater single muscle contraction power.




  • ADRB2 helps maintain blood glucose levels during prolonged exercise by promoting glycogenolysis. If you have a mutated gene, aerobic training will stimulate VO2max and aerobic capacity.
  • TRHR helps increase metabolic rate which is required to mobilize fuels during exercise. A rare mutation of this gene will help gaining lean body mass with training; this genetic variation is favorable for strength and power activities.




  • ACTN3 Actin is a component of Type II (fast twitch) muscle fibers and greatly influences power development. One genotype is linked to a greater percentage of fast twitch muscle fibers, an advantage for strength, speed and power with training. Individuals with the other genotype have an advantage with regards to aerobic training which is believed to be due to a greater percentage of slow twitch muscle fibers.
  • VDR the VDR gene has been linked to muscle strength. Individuals with a variant gene have an associated gain in strength with weight training, but they have a predisposition to lower bone density and should monito their vitamin D level and reduce caffeine intake.




  • AGT is important in the regulation of electrolyte, body fluid balance and blood pressure. AGT has been associated with greater power development. Incidence of hypertension in individuals with a mutation of this gene was found to be significantly Lower when sodium intake was reduced.
  • ACE is a key in blood pressure regulation and impacts aerobic capacity, muscular strength and lean body mass. Studies show that patients with essential hypertension and a genetic variation had a significantly higher blood pressure increase with high salt intake compared to the gene most commonly found in individuals.




  • CYP1A2 is one of the main enzymes that metabolize caffeine, a central nervous system and metabolic stimulant that is used to reduce physical fatigue. In athletics, moderate doses of caffeine have been known to improve both sprint and endurance performance.




  • CLOCK Circadian Locomotor Output Cycles Kaput (CLOCK), an essential element of the human biological clock, is involved in metabolic regulation. Individual with a mutation of this gene have reduced sleep, report morning fatigue and show an evening preference for activities.

If you want to learn more about how your genes can affect your fitness level and how to optimize your training, you can contact our genetic testing specialist Dr. Jean-Marc Sobczyk MD, ND at the Akasha Center for Integrative Medicine and start your journey towards a healthier you. You can contact him by Phone at 310-451-8880 or email at


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