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Interaction between SNPs in the NRF2 gene and elite endurance performance
Nir Eynon1, Alberto Jorge Alves, Moran Sagiv
1Genetics and Molecular Biology Laboratory, Life Sciences Division, Zinman College of Physical Education and Sport Sciences, Wingate Institute, Netanya, Israel. eynon@wincol.ac.il
Physiological Genomics
|December 24, 2009
Summary
Nuclear respiratory factor 2 (NRF2) gene variants are linked to elite endurance athletes. Specific NRF2 genotypes (AA and CT) are more common in endurance athletes, suggesting a genetic predisposition for endurance performance.
Area of Science:
- Genetics and Sports Science
- Molecular Biology and Exercise Physiology
Background:
- Nuclear respiratory factor 2 (NRF2) is a transcription factor crucial for mitochondrial biogenesis.
- NRF2 gene variants have been previously linked to endurance performance.
- Understanding genetic factors can optimize athletic training and talent identification.
Purpose of the Study:
- To compare NRF2 A/C (rs12594956) and NRF2 C/T (rs8031031) genotype and allele frequencies between endurance athletes, sprinters, and controls.
- To analyze the interaction between these two NRF2 polymorphisms and their influence on endurance performance levels.
- To investigate potential genetic markers for elite endurance athletes.
Main Methods:
- Genotyping of NRF2 A/C (rs12594956) and NRF2 C/T (rs8031031) single nucleotide polymorphisms (SNPs) in athletes and controls.
- Comparison of genotype and allele frequencies across different athletic groups (endurance, sprinters) and competitive levels (elite, national).
- Statistical analysis to determine the association and interaction of NRF2 SNPs with endurance performance.
Main Results:
- Endurance athletes showed a higher frequency of the NRF2 AA (rs12594956) genotype and the NRF2 T allele (rs8031031) compared to sprinters and controls.
- The combined NRF2 AA + CT genotypes ("optimal genotype") were significantly associated with endurance athletes, particularly at the elite level (OR 6.55).
- No significant differences were observed between sprinters and the control group for these NRF2 variants.
Conclusions:
- The NRF2 A/C and NRF2 C/T SNPs are associated with elite endurance athletes, both individually and in combination.
- These specific NRF2 gene variants may contribute to the genetic profile of successful endurance athletes.
- Further research into NRF2 polymorphisms could enhance understanding of genetic influences on athletic performance.
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