Determination of HIF1-Ars11549465 Polymorphism in Elite Skiers
Determination of HIF1-Ars11549465 Polymorphism in Elite Skiers
Studies in sports genetics have increased nowadays and the identification of genotype and allelic distributions of candidategenes in different athletes has provided important information to sports scientists. One of the candidate genes studied in sportsgenetics 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 cross-countryathletes. 34 (23 male, 11 female) athletes were included in the study, and 1 cc of blood samples taken for routine analysis afterthe approval of the ethics committee was used for DNA isolation. The commercial kit was used for DNA isolation andgenotyping was performed by Real-time PCR method. The number and percentage of CC, CT and TT genotypes of the HIF1Ars11549465 polymorphism were 24 (72.72%), 8 (24.24%) and 1 (3.03), respectively. In male skiers CC, CT and TT genotypenumbers and percentages were determined as 17 (55.51%), 4 (12.12%) and 1 (3.03%) respectively. In female, CC and TTgenotypes were determined as 7 (21.21%) and 4 (12.12%). We detected no TT genotype in female athletes. When we look at allelnumbers, C allele was determined as 56 (84.84%) and T allele was determined as 10 (15.15%). This is the first study on HIF1Ars11549465 polymorphism on Turkish elite ski cross-country athletes. The higher prevalence of CC genotype and C allele in theathlete group is similar to the previous studies on different groups of athletes. We believe that this study will be an importantreference for further studies.
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- 1. Ahmetov II, Hakimullina AM, Lyubaeva EV. Vinogradova OL and Rogozkin VA. Effect of HIF1A Gene Polymorphism on Human Muscle Performance. Bulletin of Experimental Biology and Medicine, 2008;146,(3): 327-329,
- 2. Ahmetov II, Williams AG, Popov DV, Lyubaeva EV, Hakimullina AM, Fedotovskaya ON & Rogozkin VA. The combined impact of metabolic gene polymorphisms on elite endurance athlete status and related phenotypes. Hum Genet. 2009;126:751-61.
- 3. 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.
- 4. Bouchard JR, Thomas J, and Matt McGue. "Genetic and environmental influences on human psychological differences." Journal of neurobiology, 2003; 54.1 4-45.
- 5. Çorak A, Kapıcı S, Sercan C, Akkoç O, Ulucan K. A pilot study for determination of anxiety related SLC6A4 promoter "S" and "L" alleles in healthy Turkish athletes. Cellular and Molecular Biology, 2017; 63: 29-31.
- 6. Döring F, Onur S, Fischer A, Boulay MR, Pérusse L, Rankinen T & Bouchard CA. Common haplotype and the Pro582Ser polymorphism of the hypoxia-inducible factor-1α (HIF1A) gene in elite endurance athletes. Journal of Applied Physiology, 2010; (108) 6: 1497-1500.
- 7. Eynon N, Bantingb LK, Ruizc JR, Cieszczykd P, Dyatlove DA, Maciejewska-Karlowskaf A, Sawczukf M, Pushkareve VP, Kulikove LM. ACTN3 R577X polymorphism and teamsport performance: A study involving three European cohorts. Journal of Science and Medicine in Sport, 2014; 17: 102-106.
- 8. Ivan M, Kondo K, Yang H, Kim W, Valiando J, Ohh M, Salic A, Asara JM, Lane WS, Kaelin WG. HIFα targeted for VHLmediated destruction by proline hydroxylation: implications for O2 sensing. Science, 2001; 292: 464-468.
- 9. Kaynar Ö and Bilici MF. Analysis of the Talent Selection in Turkish Wrestling. International Journal of Science Culture and Sport, 2017; 5(4):347-355.
- 10. Korkut Ulucan. Spor Genetiği Açısından Türk Sporcuların ACTN3 R577X Polimorfizm Literatür Özeti. Clin Exp Health Sci 2016; 6(1): 44-47.
- 11. Lysiak JJ, Kirby JL, Tremblay JJ, Woodson RI, Reardon MA, Palmer LA, Turner TT. 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.
- 12. Maciejewska A, Sawczuk M, Cieszczyk, P, Mozhayskaya IA, &Ahmetov II. The PPARGC1A gene Gly482Ser in Polish and Russian athletes. Journal of sports sciences, 2012; 30(1): 101- 113.
- 13. Mason SD, Rundqvist H, Papandreou I, Duh R, McNulty WJ, Howlett RA & Johnson RS. HIF-1 in endurance training: suppression of oxidative metabolism. Am J Physiol Regul Integr Comp Physiol,2007; 293: 2059–2069.
- 14. Montgomery HE, Marshall R, Hemingway H. Human gene for physical performance. Nature, 1998; 393(6682): 221–222.
- 15. Prior SJ, Hagberg JM, Phares DA, Brown MD, Fairfull L, Ferrell RE, Roth SM. Sequence variation in hypoxiainducible factor 1 alpha (HIF1A): association with maximal oxygen consumption. Physiol Genomics 2003;15: 20–26.
- 16. Ulucan K, Sercan C, ve Bıyıklı T. Distribution of Angiotensin-1 Converting Enzyme Insertion/Deletion and αActinin-3 Codon 577 Polymorphisms in Turkish Male Soccer Players. Genetics & Epigenetics, 2015: 71-74.
- 17. Yang N, Macarthur DG, Gulbin JP. ACTN3 genotype is associated with human elite athletic performance. American Journal of Human Genetics, 2003;73: 627–631.
- 18. Zilberman-Schapira G, Chen J, Gerstein M. On sports and genes. Recent Patents on DNA & Gene Sequences Journals, 2012; 6: 180-188.