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

Eynon, Nir and Ruiz, Jonatan and Bishop, David and Santiago, Catalina and Gómez-Gallego, Félix and 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)

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Abstract

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.

Item Type: Article
Uncontrolled Keywords: ResPubID25468, ResPubID26693, genetics, transcription factors, exercise, polymorphism
Subjects: FOR Classification > 1106 Human Movement and Sports Science
Faculty/School/Research Centre/Department > Institute of Sport, Exercise and Active Living (ISEAL)
Faculty/School/Research Centre/Department > College of Sports and Exercise Science
Depositing User: Yimin Zeng
Date Deposited: 07 Jan 2014 01:16
Last Modified: 26 Jul 2016 05:15
URI: http://vuir.vu.edu.au/id/eprint/23463
DOI: 10.1016/j.jsams.2012.05.004
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