Determination of HIF1Ars11549465 Polymorphism in Elite Skiers

Year 2019, Volume: 21 Issue: 2, 328 - 331, 15.09.2019

Ömer Kaynar Fatih Bilici Korkut Ulucan Canan Sercan

https://doi.org/10.15314/tsed.544566

Cited By: 1

Abstract

ABSTRACT

Studies in sport genetics have increased
nowadays and the identification of genotype and allelic distributions of
candidate genes in different athletes has provided important information to
sports scientists. One of the candidate genes studied in sports genetics is the
hypoxia-inducible factor 1-alpha (HIF1A) gene, which is associated with the
endurance phenotype. In our study, we aimed to determine the genotypic and
allelic distribution of HIF1A
rs11549465 polymorphism in Turkish Elite Ski Runners. 34 (23 male, 11 female)
athletes were included in the study, and 1 cc of blood samples taken for
routine analysis after the approval of the ethics committee was used for DNA
isolation. The commercial kit was used for DNA isolation and genotyping was
performed by Real-time PCR method. The number and percentage of CC, CT and TT
genotypes of the HIF1A rs11549465 polymorphism were 24 (72.72%), 8 (24.24%) and
1 (3.03), respectively. In male skiers CC, CT and TT genotype numbers and
percentages were determined as 17 (55.51%), 4 (12.12%) and 1 (3.03%)
respectively. In female, CC and TT genotypes were determined as 7 (21.21%)
and 4 (12.12%). We detected no
TT genotype in female athletes. When we look at allel numbers, C allele was
determined as 56 (84.84%) and T allele was determined as 10 (15.15%). This is
the first study on HIF1A rs11549465
polymorphism on Turkish elite ski runners. The higher prevalence of CC genotype
and C allele in the athlete group is similar to the previous studies on
different groups of athletes. We believe that this study will be an important
reference for further studies.

Keywords

Sport genetics, cross-country, athletic performance

References

• Referans 1 Kaynar, Ö. ve Bilici, M.F (2017). Analysis of the Talent Selection in Turkish Wrestling. International Journal of Science Culture and Sport, 5(4):347-355.Referans 2 Prior SJ, Hagberg JM, Phares DA, Brown MD, Fairfull L, Ferrell RE, Roth SM. Sequence variation in hypoxia-inducible factor 1 alpha (HIF1A): association with maximal oxygen consumption. Physiol Genomics 15: 20–26, 2003.Referans 3 Ivan M, Kondo K, Yang H, Kim W, Valiando J, Ohh M, Salic A, Asara JM, Lane WS, Kaelin WG. HIFα targeted for VHL-mediated destruction by proline hydroxylation: implications for O2 sensing. Science 2001; 292: 464-468.Referans 4 Çorak, A., Kapıcı, S., Sercan, C., Akkoç, O., Ulucan, K. (2017) A pilot study for determination of anxiety related SLC6A4 promoter "S" and "L" alleles in healthy Turkish athletes. Cellular and Molecular Biology, 63(5), 29-31.Referans 5 Korkut Ulucan. Spor Genetiği Açısından Türk Sporcuların ACTN3 R577X Polimorfizm Literatür Özeti. Clin Exp Health Sci 2016; 6(1): 44-7.Referans 6 Lysiak J.J., Kirby J.L., Tremblay J.J., Woodson R.I., Reardon M.A., Palmer L.A., Turner T.T. Hypoxia-inducible factor-1a is constitutively expressed in murine Leydig cells and regulates 3b-hydroxysteroid dehydrogenase type 1 promoter activity. J. Androl. 2009;2:146-156.Referans 7 Zilberman-Schapira, G., Chen, J., Gerstein, M. (2012). On sports and genes. Recent Patents on DNA & Gene Sequences - Journals,6, 180-188.Referans 8 Ulucan, K., Sercan C., ve Bıyıklı, T. (2015). Distribution of Angiotensin-1 Converting Enzyme Insertion/Deletion and α-Actinin-3 Codon 577 Polymorphisms in Turkish Male Soccer Players. Genetics & Epigenetics, 7 1-74. Referans 9 Bouchard Jr, Thomas J., and Matt McGue. "Genetic and environmental influences on human psychological differences." Journal of neurobiology 54.1 (2003): 4-45.Referans 10 Montgomery HE, Marshall R, Hemingway H. (1998). Human gene for physical performance. Nature, 393(6682), 221–222.Referans 11 Yang N, Macarthur DG, Gulbin JP. (2003). ACTN3 genotype is associated with human elite athletic performance. American Journal of Human Genetics, 73, 627–631Referans 12 Berra E, Benizri E, Ginouves A, Volmat V, Roux D, Pouyssegur J. HIF prolylhydroxylase 2 is the key oxygen sensor setting low steady-state levels of HIF-1α in normoxia. EMBO J 2003; 22: 4082-4090.Referans 13 Ahmetov II, Fedotovskaya ON. Current progress in sports genomics (Review). Cell Mol Exerc Physiol. 2012;1:e1. doi: 10.7457/cmep.v1i1.e1.Referans 14 Ahmetov I I, Hakimullina A M.. Lyubaeva EV. Vinogradova O L and Rogozkin VA. Effect of HIF1A Gene Polymorphism on Human Muscle Performance. Bulletin of Experimental Biology and Medicine, 146,(3), 327-329,2008.Referans 15 Döring F, Onur S, Fischer A, Boulay MR, Pérusse L, Rankinen T, et al. A common haplotype and the Pro582Ser polymorphism of the hypoxia-inducible factor-1alpha (HIF1A) gene in elite endurance athletes. J Appl Physiol (1985). 2010;108:1497-500.Referans 16 Ahmetov II, Williams AG, Popov DV, Lyubaeva EV, Hakimullina AM, Fedotovskaya ON, et al. The combined impact of metabolic gene polymorphisms on elite endurance athlete status and related phenotypes. Hum Genet. 2009;126:751-61.Referans 17 Mason at. el.,HIF-1 in endurance training: suppression of oxidative metabolism. Am J Physiol Regul Integr Comp Physiol 293: R2059–R2069, 2007.Referans 18 Maciejewska, A., Sawczuk, M., Cieszczyk, P., Mozhayskaya, I. A., & Ahmetov, I. I. (2012). The PPARGC1A gene Gly482Ser in Polish and Russian athletes. Journal of sports sciences, 30(1), 101-113.Referans 19 Eynon N, Bantingb LK, Ruizc J R, Cieszczykd P, Dyatlove DA., Maciejewska-Karlowskaf A, Sawczukf M, Pushkareve VP, Kulikove LM, at.al. ACTN3 R577X polymorphism and team-sport performance: A study involving three European cohorts. Journal of Science and Medicine in Sport 17 (2014) 102– 106.