The rs12594956 polymorphism in the NRF-2 gene is associated with top-level Spanish athlete's performance status

Nir Eynon, Jonatan R. Ruiz, David J. Bishop, Catalina Santiago, Félix Gómez-Gallego, Alejandro Lucia, Ruth Birk

Research output: Contribution to journalArticlepeer-review

22 Scopus citations


Objectives: To determine the association between the nuclear respiratory factor 2 (NRF-2) polymorphisms and elite athletic performance. Design: We compared the genotype and allele frequencies of the NRF-2 A/C (rs12594956), NRF-2 A/G (rs7181866), and NRF-2 C/T (rs8031031) polymorphisms between world-class endurance athletes (n=89), elite power-oriented athletes (n=38), and non-athletic controls (n=110) of the same Caucasian (Spanish) origin. Methods: Genomic DNA was extracted from peripheral EDTA-treated, anti-coagulated blood using a standard protocol. Genotyping was performed using polymerase chain reaction (PCR). Results: The frequency of the AA genotype of the NRF-2 A/C (rs12594956) polymorphism was significantly higher in endurance athletes compared with power athletes (p<0.01) and controls (p<0.01) (48% vs. 13% and 21%, respectively). The likelihood of having the AA (rs12594956) genotype was higher in elite endurance athletes compared with controls [odds ratio (OR): 3.536, 95% confidence interval (CI): 1.903-6.571] and elite power athletes (OR: 6.170, 95%CI: 2.206-17.253). Conclusions: Our results suggest that the NRF-2 A/C polymorphism might belong to a growing group of polymorphisms associated with endurance performance at the elite level. However, it is important to replicate these findings in other groups of elite athletes using larger sample sizes.

Original languageEnglish
Pages (from-to)135-139
Number of pages5
JournalJournal of Science and Medicine in Sport
Issue number2
StatePublished - 1 Mar 2013
Externally publishedYes


  • Exercise
  • Genetics
  • Polymorphism
  • Transcription factors

ASJC Scopus subject areas

  • Orthopedics and Sports Medicine
  • Physical Therapy, Sports Therapy and Rehabilitation


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