The Elite Genes: Genetics Behind Top Athletes

Professor Roberto Grobman
4 min readNov 2, 2023

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Have you ever wondered why some people seem naturally gifted at sports while others have to work harder to achieve the same level of prowess? Well, genetics might have a part to play in this, and today, we’ll explore the fascinating world of “sports genes.”

  • ACTN3: The Speed Gene
    ACTN3 is often dubbed the ‘speed gene’. It’s predominantly associated with fast-twitch muscle fibers, vital for explosive power. The RR genotype of this gene gives a natural advantage in quick power events, such as sprinting. Conversely, the XX genotype is associated with endurance, benefiting marathon runners.

Did you know? Almost 1.5 billion people worldwide lack the ACTN3 protein in their fast-twitch muscle fibers but this doesn’t mean they can’t be good sprinters. It’s nature’s way of reminding us that athletic performance is multi-faceted.

  • ACE: The Stamina Booster
    The ACE gene has variants I (Insertion) and D (Deletion). Individuals with the II genotype are often better suited for endurance events, thanks to enhanced oxygen efficiency. The DD genotype leans towards power sports, bestowing benefits in sprints and jumps.

High in the Himalayas: Sherpas, known for their mountain-climbing prowess in the Himalayas, have a higher prevalence of the II genotype, granting them remarkable endurance in high altitudes.

  • VDR: For Bone and Muscle Resilience
    This gene, associated with the vitamin D receptor, is pivotal for bone density and muscle strength. Specific variants within the VDR gene can be a boon for athletes in sports that demand robust skeletal strength, such as weightlifting.

Sunny Disposition: Regions with low sunlight often see residents with certain VDR gene variants which make them more susceptible to low bone density. Yet, this can be offset by diet and supplementation.

  • PPARD: The Endurance Enhancer
    This gene is crucial for fat oxidation. A particular variant can heighten aerobic capacity, a treasure for endurance athletes, allowing them to sustain longer periods of activity.

Fuel Matters: Studies suggest individuals with specific PPARD gene variations might preferentially burn fat over carbohydrates during prolonged exercises, making them efficient fat-burning machines.

  • COL5A1: Flexibility Factor
    The COL5A1 gene is linked to ligament structure and elasticity. Variants of this gene can influence joint flexibility, a desirable trait for gymnasts and divers.

Beyond Sports: Apart from athletics, variations in the COL5A1 gene have also been studied for their association with conditions like Ehlers-Danlos syndrome, which affects skin and joint elasticity.

  • MSTN: Muscle Mass Modulator
    MSTN regulates muscle growth. Certain genotypes might have a reduced function, leading to increased muscle mass and strength, crucial for bodybuilders and powerlifters.

Bulking Up: Some breeds of cattle, like the Belgian Blue, have naturally occurring mutations in MSTN, leading to a “double muscled” appearance. These cows have more muscle but less fat.

  • NOS3: Blood Flow Benefactor
    NOS3 plays a role in blood vessel dilation. Athletes with specific variants might experience enhanced blood flow, benefitting sports that require continuous muscle oxygenation like cycling or long-distance swimming.

Heart’s Best Friend: The NOS3 gene doesn’t just benefit athletes. Variants of this gene can play a protective role against cardiovascular diseases, thanks to its role in blood vessel dilation.

Understanding the Role of Genes in Athletic Performance

When it comes to athletic prowess, there’s more than just training and determination at play. Our genes, the fundamental units of heredity, also have a hand in influencing our physical abilities. This relationship becomes evident when we look at specific segments of our DNA known as SNPs, and how variations in these segments, termed as genotypes, can impact our performance.

What are SNPs? SNP, or Single Nucleotide Polymorphism, is essentially a variation at a single position in a DNA sequence among individuals. Think of it as a unique marker. Each SNP has an RSID, which is a unique identification tag given to each SNP to help researchers and professionals reference them.

What is Genotype? A genotype is the set of genes in our DNA responsible for a particular trait. In the context of our table, the genotype refers to the combination of two alleles (either A, T, C, or G) at a particular SNP. These genotypes can influence how genes are expressed, leading to variations in traits, like muscle type or oxygen uptake ability, which can be critical for athletes.

Breaking Down the Table: The table provides a snapshot of some key genes that have been associated with athletic performance.

Bibliography:

  1. Yang, N., MacArthur, D. G., Gulbin, J. P., et al. (2003). ACTN3 genotype is associated with human elite athletic performance. American Journal of Human Genetics, 73(3), 627–631.
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  3. Uitterlinden, A. G., Fang, Y., Van Meurs, J. B., et al. (2004). Genetics and biology of vitamin D receptor polymorphisms. Gene, 338(2), 143–156.
  4. Collins, M., & Raleigh, S. M. (2009). Genetic risk factors for musculoskeletal soft tissue injuries. Medicine & Science in Sports & Exercise, 41(5), 989–996.
  5. Schuelke, M., Wagner, K. R., Stolz, L. E., et al. (2004). Myostatin mutation associated with gross muscle hypertrophy in a child. New England Journal of Medicine, 350(26), 2682–2688.
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Professor Roberto Grobman

Prof. Roberto Grobman is a leading geneticist, bridging genomics with Functional and Precision Medicine through academic and applied research.