This gene encodes for EPAS1, which is a transcription factor found in Endothelial PAS. EPAS1 plays an important role in the HIF pathway in blood. The rs1867785 G and rs11689011 C alleles of this gene are over-represented in sprint/power athletes.

Michigan State University

The following short sequences of DNA have been used to identify chromosomes involved in the modulation of oxygen uptake in elite power athletes:
- HIF1A
- EPAS1
- NOS3
- SOD2

Genetic Markers Involved in the Modulation of Oxygen Uptake in Athletes

Maciejewska-Skrendo, A., Cięszczyk, P., Chycki, J., Sawczuk, M., & Smółka, W. (2019). Genetic Markers Associated with Power Athlete Status. Journal of human kinetics, 68, 17–36. https://doi.org/10.2478/hukin-2019-0053

Genetic Markers Associated with Power Athlete Status (Reference)

The HIF1A 582Ser allele was more common in weightlifters compared to non-weightlifters, and its prevalence increased in correlation with how well the power athlete performs.

HIF1A

EPAS1 Gene

Nitric oxide modulates the oxygen uptake in human skeletal muscles during exercise. NOS3 encodes a protein that is essential to this process. The frequency of the NOS3 rs2070744 T (-786 T/C polymorphism) allele is much higher in power-athletes when compared to non-athletic controls.

NOS3

The protein encoded by this gene accelerates the breakdown of the superoxide radicals within mitochondria. It does this by converting anions superoxide to hydrogen peroxide (H2O2) and oxygen. Power athletes have a significantly higher SOD2 allele frequency (Ala16) compared to controls (Ala16). 

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