Nuclear respiratory factor 2 (NRF2), also referred to as the GA-binding protein (GABP) transcription factor, is a key transcriptional activator of many nuclear genes which encode a wide range of mitochondrial enzymes. The variants of the GABPB1 gene encoding the beta1 subunit of NRF2 protein have been associated with physical performance, particularly endurance. The aim of this study was to confirm the possible importance of the A/G polymorphism (rs7181866) in intron 3 of the GABPB1 gene in Polish rowers. The study was carried out on 55 Polish rowers and sedentary individuals, to evaluate the possible relationships between genotype and physical performance. DNA was extracted from buccal cells donated by the subjects. Genotyping was carried out by PCR-RFLP. The results revealed that the frequency of the GABPB1 A/G genotype (89.09% AA; 10.91% AG, 0% GG; vs. 97.69% AA; 2.31% AG; 0.00% GG) %; P = 0.012) and G allele (5.50% vs. 1.17%; P = 0.014) was significantly higher in the rowers compared to controls. The results suggest that the GABPB1 gene can be taken into consideration as a genetic marker in endurance athletes. However, these conclusions should be supported with more experimental studies on other GABPB1 polymorphisms and other genes in elite endurance athletes.
If the inline PDF is not rendering correctly, you can download the PDF file here.
Ahmetov II Williams AG Popov DV Lyubaeva EV Hakimullina AM Fedotovskaya ON Mozhayskaya IA Vinogradova OL Astratenkova IV Montgomery HE Rogozkin VA. The combined impact of metabolic gene polymorphisms on elite endurance athlete status and related phenotypes. Hum Genet. 2009:6751-761.
Baar K. Involvement of PPAR gamma co-activator-1 nuclear respiratory factors 1 and 2 and PPAR alpha in the adaptive response to endurance exercise. Proc Nutr Soc. 2004:63269-273.
Baar K Wende AR Jones TE Marison M Nolte LA Chen M Kelly DP Holloszy JO. Adaptations of skeletal muscle to exercise: rapid increase in the transcriptional coactivator PGC-1. FASEB J. 2002:161879-1886.
Bouchard C Rankinen T Chagnon YC Rice T Perusse L Gagnon J Borecki I An P Leon AS Skinner JS Wilmore JH Province M Rao DC. Genomic scan for maximal oxygen uptake and its response to training in the HERITAGE Family Study. J Appl Physiol. 2000:88551-559.
Druzhevskaya AM Ahmetov II Astratenkova IV Rogozkin VA. Association of the ACTN3 R577X polymorphism with power athlete status in Russians. Eur J Appl Physiol. 2008:97103-108.
Eynon N Alves AJ Sagiv M Yamin C Sagiv M Meckel Y. Interaction between SNPs in the NRF2 gene and elite endurance performance. Physiol Genom. 2010:4178-81.
Eynon N Meckel Y Alves AJ Nemet D Eliakim D. Is there an interaction between BDKRB2-9/+9 and GNB3 C825T polymorphisms and elite athletic performance? Scand J Med Sci Sports. 2011 doi: 10.1111/j.1600-0838.2010.01261.x. [Epub ahead of print]
Eynon N Sagiv M Meckel Y Duarte JA Alves AJ Yamin C Sagiv M Goldhammer E Oliveira J. NRF2 intron 3 A/G polymorphism is associated with endurance athletes' status. J Appl Physiol. 2009:10776-79.
Gleyzer N Vercauteren K Scarpulla RC. Control of mitochondrial transcription specificity factors (TFB1M and TFB2M) by nuclear respiratory factors (NRF-1 and NRF-2) and PGC-1 family coactivators. Mol Cell Biol. 2005:251354-1366.
He Z Hu Y Feng L Lu Y Liu G Xi Y Wen L McNaughton LR. NRF2 genotype improves endurance capacity in response to training. Int J Sports Med. 2007:28717-721.
Khor TO Huang MT Kwon KH Chan JY Reddy BS Kong AN. Nrf2-deficient mice have an increased susceptibility to dextran sulfate sodium-induced colitis. Canc Res. 2006:6611580-11584.
Kobayashi M Yamamoto M. Molecular mechanisms activating the Nrf2-Keap1 pathway of antioxidant gene regulation. Antioxid Redox Signal. 2005:7385-394.
Niklas P Li W Jens W Michail T Kent S. Mitochondrial gene expression in elite cyclists: effects of high-intensity interval exercise. Eur J Appl Physiol. 2010:110597-606.
Nikolaidis MG Jamurtas AZ Paschalis V Fatouros IG Koutedakis Y Kouretas D. The effect of muscle-damaging exercise on blood and skeletal muscle oxidative stress: magnitude and time-course considerations. Sports Med. 2008:38579-606.
Numazawa S Yoshida T. Nrf2-dependent gene expressions: a molecular toxicological aspect. J Toxicol Sci. 2004:2981-89.
Powers SK Jackson MJ. Exercise-induced oxidative stress: cellular mechanisms and impact on muscle force production. Physiological Reviews. 2008:881243-1276.
Scarpulla RC. Nuclear activators and coactivators in mammalian mitochondrial biogenesis. Biochim Biophys Acta. 2002:15761-14.
Suzuki K Nakaji S Yamada M Totsuka M Sato K Sugawara K. Systemic inflammatory response to exhaustive exercise. Exerc Immunol Rev. 2002:86-48.
Tonkonogi M Walsh B Svensson M Sahlin K. Mitochondrial function and antioxidative defence in human muscle: effects of endurance training and oxidative stress. J Physiol. 2000:528(2)379-388
Turner DL Hoppeler H Claassen H Vock P Kayser B Schena F Ferretti G. Effects of endurance training on oxidative capacity and structural composition of human arm and leg muscles. Acta Physiol Scand. 1997:161459-464.
Virbasius JV Scarpulla RC. Activation of the human mitochondrial transcription factor A gene by nuclear respiratory factors: a potential regulatory link between nuclear and mitochondrial gene expression in organelle biogenesis. Proc Natl Acad Sci Unit States Am. 1994:911309-1313.
Virbasius JV Virbasius CA Scarpulla RC. Identity of GABP with NRF-2 a multisubunit activator of cytochrome oxidase expression reveals a cellular role for an ETS domain activator of viral promoters. Genes. 1993:7380-392.
Yu X Kensler T. Nrf2 as a target for cancer chemoprevention. Mutat Res. 2005:59193-102.