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Sports Performance Genetic Testing, SportsGenomiX®

Genetic testing for sports performance with Diagnostiki Athinon’s SportsGenomiX® is a laboratory effort to predict an individual's athletic ability and potential. It can help athletes of all levels to identify their strengths and weaknesses, develop personalized training programs, and reduce their risk of injury. SportsGenomiX® sports performance genetic testing includes the testing of 16 polymorphisms in 15 genes.

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Athletic success is influenced by many genetically determined factors, including transcriptomic, biochemical, histological, anthropometric, physiological, and psychological traits, as well as general health status. On average, 66% (20-80%) of the variance in athlete status can be explained by genetic factors. The remaining variance is due to environmental factors, such as deliberate practice, nutrition, ergogenic aids, birthplace, the availability of medical and social support, and even luck. Genetic variations in certain genes can have an impact on an individual's athletic performance, including endurance, strength, and overall fitness.

Genetic polymorphisms are variations in the DNA sequence that can occur in any gene. Some polymorphisms are common, while others are rare. While most polymorphisms have no noticeable effect on health or performance, some can influence athletic ability. Over the past few decades, researchers have identified hundreds of gene polymorphisms that are associated with different aspects of sports performance, including endurance, power, strength, speed, muscle mass, body composition, and injury risk.

It is important to note that no single gene polymorphism is responsible for athletic success. Rather, it is a combination of many different factors, including genetics, environment, and training, that determines an athlete's potential.

Gene polymorphism testing can be used to:

  • Identify individuals with a genetic predisposition for certain sports or athletic activities.
  • Tailor training programs to an individual's genetic profile.
  • Predict an individual's risk of injury.
  • Develop personalized dietary and supplement recommendations.

ACE gene: The ACE gene encodes angiotensin-converting enzyme, which plays a role in regulating blood pressure and cardiovascular function. The presence or absence of a specific genetic variant (Alu insertion or deletion) may influence an athlete's endurance potential. The I allele is associated with endurance athletes, while the D allele is more common in strength and power athletes.

ACTN3 gene: ACTN3 codes for a protein called alpha-actinin-3, which is primarily found in fast-twitch muscle fibers. A variation in this gene (C577X) results in a lack of functional alpha-actinin-3 and may influence an individual's sprinting and power performance. Homozygotes for the T allele (XX) are more common in endurance athletes, while those with the CC genotype may excel in power sports.

AMPD1 gene: AMPD1 encodes an enzyme involved in energy metabolism during intense exercise. The T allele of this gene is associated with a higher risk of fatigue during short, high-intensity efforts. This genetic variant may affect performance in sports requiring explosive power and short bursts of energy.

CNTF gene: CNTF (Ciliary neurotrophic factor) plays a role in muscle and nerve development. Variations in the CNTF gene may impact muscle growth and repair, potentially influencing an athlete's ability to recover and adapt to training.

IL15RA gene: Interleukin-15 receptor alpha (IL15RA) is involved in immune and muscle function. Genetic variations in this gene may influence muscle growth and recovery, which can affect an athlete's performance and ability to adapt to training.

L3MBTL4 gene: This gene is less well-studied in the context of sports performance, and its specific impact remains unclear. L3MBTL4 may have roles in various cellular processes, while it seems to be more related to athletic endurance.

PPARA gene: The PPARA gene is involved in fatty acid metabolism and endurance-related processes. Variations in this gene may influence an athlete's ability to utilize fatty acids for energy and, consequently, affect endurance performance.

PPARGC1A gene: PPARGC1A is a gene associated with mitochondrial biogenesis and energy metabolism. Genetic variations in this gene can affect an individual's endurance capacity and their ability to adapt to aerobic exercise.

UCP2 gene: UCP2 encodes a protein involved in energy expenditure and metabolism. Genetic variations in this gene may impact an athlete's ability to regulate body weight and energy balance, potentially affecting their performance.

PPARG2 gene: PPARG2 is associated with adipocyte differentiation and fat storage. Variations in this gene may influence an athlete's predisposition to store fat, potentially impacting body composition and performance.

MTHFR gene: MTHFR is involved in folate metabolism, and variations in this gene may affect an athlete's ability to repair and build muscle. It can also influence recovery and adaptation to training.

VDR gene: The VDR gene is involved in vitamin D metabolism and may impact an athlete's bone health, muscle function, and immune response. Genetic variations in this gene may influence an individual's response to vitamin D and calcium supplementation.

HIF1A gene: HIF1A encodes a transcription factor that regulates oxygen homeostasis. Variations in this gene may impact an athlete's adaptation to low-oxygen environments (e.g., high-altitude training).

ADRB2 gene: ADRB2 encodes beta-2 adrenergic receptors, which play a role in regulating the cardiovascular system and bronchial function. Variations in this gene may influence an athlete's response to adrenaline and other catecholamines, affecting endurance and sprint performance.

NOS3 gene: NOS3 codes for endothelial nitric oxide synthase (eNOS), which plays a role in blood vessel dilation and cardiovascular health. Genetic variations in this gene may affect an athlete's cardiovascular performance and overall endurance capacity.

It's important to note that genetics is just one of many factors that influence athletic performance, and the interplay of genetics with training, nutrition, and other environmental factors is complex. Individual responses can vary, and not all athletes with specific genetic variations will have the same performance outcomes. Additionally, genetic testing for sports performance is a developing field, and the practical application of this knowledge is still evolving.

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