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

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Eynon, Nir ORCID: 0000-0003-4046-8276, Ruiz, Jonatan, Bishop, David ORCID: 0000-0002-6956-9188, Santiago, Catalina, Gómez-Gallego, Félix, Lucia, Alejandro and Birk, Ruth (2013) The rs12594956 polymorphism in the NRF-2 gene is associated with top-level Spanish athlete's performance status. Journal of Science and Medicine in Sport, 16 (2). pp. 135-139. ISSN 1440-2440 (print) 1878-1861 (online)


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.

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Item type Article
DOI 10.1016/j.jsams.2012.05.004
Official URL
Subjects Historical > FOR Classification > 1106 Human Movement and Sports Science
Historical > Faculty/School/Research Centre/Department > Institute of Sport, Exercise and Active Living (ISEAL)
Current > Division/Research > College of Sports and Exercise Science
Keywords ResPubID25468, ResPubID26693, genetics, transcription factors, exercise, polymorphism
Citations in Scopus 19 - View on Scopus
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