Issue
Prevalence of alpha actinin-3 gene (ACTN3) R577X and angiotensin converting enzyme (ACE) insertion / deletion gene polymorphisms in national and amateur Turkish athletes
Corresponding Author(s) : Korkut Ulucan
Cellular and Molecular Biology,
Vol. 64 No. 5: Issue 5
Abstract
Studies to date showed the importance of alpha- actinin-3 (ACTN3) R577X and angiotensin converting enzyme (ACE) ID polymorphisms on determining athletic performance. Therefore, in this study, we aimed to examine polymorphisms given to Turkish athletes and compare them with sedentary individuals. Genomic DNAs were extracted from peripheral blood by using commercially available DNA isolation kit (Macherey-Nagel, NucleoSpin®, Germany). For this study, a total of 84 volunteers (23 national athletes, 27 amateur athletes and 34 sedentary controls) was recruited. ACE ID genotypes were determined by conventional polymerase chain reaction, and ACTN3 R577X polymorphisms by polymerase chain reaction- restriction fragment length polymorphism methodology. In ACTN3 R577X polymorphism, RX was the dominating genotype, and we detected no RR genotype in national athletes. (no RR genotype was detected in national athletes) X allele is more frequent in national athletes and R allele was more frequent in both amateur athletes and control group. II genotype was more frequent in national athletes and in control group, whereas DD genotype was more frequent in amateur athletes for ACE ID polymorphism. When we consider alleles, D allele was found more frequently in amateur athletes and control group whereas I allele was more frequent in national athletes in ACE ID polymorphism. For ACTN3, X allele was superior to R allele. ACTN3 R577X and ACE ID polymorphisms were important biomarkers in determining athletic performance. However, our results in Turkish athletes suggest that ACE D allele and ACTN3 X alleles may be beneficial to athletes potentially, regardless of the distance they perform.
Keywords
Download Citation
Endnote/Zotero/Mendeley (RIS)BibTeX
- Lortie G, Bouchard, C, Leblanc C, Tremblay A, Simoneau JA, Thériault G et al. Familial similarity in aerobic power Hum Biol 1982;54:801-12.
- Corak A, Kapıcı S, Sercan C, Akkoc O, Ulucan K. A pilot study for determination of anxiety related SLC6A4 promoter "S" and "L" alleles in Turkish athletes. Cell Mol Biol (Noisy le Grand) 2017; 63(5): 29-31.
- Yang N, MacArthur DG, Gulbin JP, Hahn AG, Beggs AH, Easteal S et al. ACTN3 genotype is associated with human elite athletic performance. American Journal of Human Genetics 2003;73: 627–31.
- Ulucan K. Literature Review of Turkish Sportsmen in Terms of ACTN3 R577X Polymorphism. Clin Exp Health Sci 2016; 6(1): 44-7.
- North KN, Yang N, Wattanasirichaigoon D, Mills M, Easteal S, Beggs AH. A common nonsense mutation results in alpha-actinin-3 deficiency in the general population. Nature Genetics 1999; 21: 353-4.
- Ahmetov II, Fedotovskaya ON. Current progress in sports genomics. Adv Clin Chem 2015;70:247-314.
- Ulucan K, Göle S, Altindas N, Güney A. Preliminary Findings of α -Actinin-3 Gene Distribution in Elite Turkish Wind Surfers. Balkan J Med Genet 2013;16(1):69-72.
- Papadimitriou D, Lucia A, Pitsiladis YP, Pushkarev VP, Dmitry A. Dyatlov, Evgeniy F. Orekhov, Guilherme G. Artioli, Joí£o Paulo L. F. Guilherme, ACTN3 R577X and ACE I/D gene variants influence performance in elite sprinters: a multi-cohort study. BMC Genomics 2016;17:285.
- Santiago C, González-Freire M, Serratosa L, Morate FJ, Meyer T, Gómez-Gallego F, Lucia A. ACTN3 genotype in professional soccer players. Br J Sports Med 2008;42(1): 71-3.
- Guney AI, Ergec D, Kirac D, Ozturhan H, Caner M, Koc G, et al. Effects of ACE polymorphisms and other risk factors on the severity of coronary artery disease. Genet Mol Res 2013;12(4):6895-906.
- Zhang B, Tanaka H, Shono N, Miura S, Kiyonaga A, Shindo M, et al. The I allele of the angiotensin-converting enzyme gene is associated with an increased percentage of slow-twitch type I fibers in human skeletal muscle. Clin Genet 2003; 63(2):139-44.
- Cieszczyk P, Krupecki K, Maciejewska A, Sawczuk M. The angiotensin converting enzyme gene I/D polymorphism in Polish rowers. Int J Sports Med 2009;30(8):624-7.
- Sercan C, Eken BF, Erel S, íœlgüt D, Kapıcı S, Ulucan K. Spor Geneti̇gi ve ACE Gen ć°lişki̇si̇. Journal of Physical Education and Sport Sciences 2016;3(2):26-34.
- Scott RA, Irving R, Irwin L, Morrison E, Charlton V, Austin K, et al. ACTN3 and ACE Genotypes in Elite Jamaican and US Sprinters. Med Sci Sports Exerc 2010;42(1):107-12.
- í‡am FS, í‡olakoğlu M, í‡olakoğlu Åž, Berdeli A. The ACE I/D gene polymorphism and physical performance in a non-elite female cohort. Turkish journal of sports medicine 2005;40(1):1-8.
- Cam S, Colakoglu M, Colakoglu S, Sekuri C, Berdeli A. ACE I/D gene polymorphism and aerobic endurance development in response to training in a non-elite female cohort. J Sports Med Phys Fitness 2007; 47(2):234-8.
- Yang R, Shen X, Wang Y., Voısın S., Caı G., Fu Y., et al. ACTN3 R577X gene variant is associated with muscle-related phenotypes in elite chinese sprint/power athletes. Journal of Strength and Conditioning Research 2016; 31(4):1107–15.
- Eynon N, Banting LK, Ruiz JR, Cieszczyk P, Dyatlov DA, Maciejewska-Karlowska A, et al. ACTN3 R577X polymorphism and team-sport performance: a study involving three European cohorts. J Sci Med Sport 2014; 17(1):102-6.
- Kikuchi N, Miyamoto-Mikami E, Murakami H, Nakamura T, Min SK, Mizuno M. ACTN3 R577X genotype and athletic performance in a large cohort of Japanese athletes. Eur J Sport Sci 2016;16(6):694-701.
- Kim H, Song KH, Kim CH. The ACTN3 R577X variant in sprint and strength performance J Exerc Nutrition Biochem 2014;18(4):347-53.
- Sanlısoy F, Altıntas N, Buyukyazı G, Candan N. Investigation of ACTN3 R577X genotype distribution of elite athletes in the Aegean region. Cumhuriyet Med J 2011;33:153-9.
- Günel T, Gümüşoğlu E, Hosseını MK, Yılmazyıldırım E, Dölekçap I, Aydınlı K. Effect of angiotensin I-converting enzyme and α-actinin-3 gene polymorphisms on sport performance. Molecular Medıcıne Reports 2014;9:1422-6.
- Ulucan K, Bayyurt GM, Konuk M, Güney AI. Effect of alpha-actinin-3 gene on trained and untrained Turkish middle-school children's sprinting performance: a pilot study. Biological Rhythm Research 2014;45(4):509–14.
- Eroğlu O, Zileli R. The Effect Of Genetic Factors On Sportive Performance. IJSETS 2015;1(1):63-76.
References
Lortie G, Bouchard, C, Leblanc C, Tremblay A, Simoneau JA, Thériault G et al. Familial similarity in aerobic power Hum Biol 1982;54:801-12.
Corak A, Kapıcı S, Sercan C, Akkoc O, Ulucan K. A pilot study for determination of anxiety related SLC6A4 promoter "S" and "L" alleles in Turkish athletes. Cell Mol Biol (Noisy le Grand) 2017; 63(5): 29-31.
Yang N, MacArthur DG, Gulbin JP, Hahn AG, Beggs AH, Easteal S et al. ACTN3 genotype is associated with human elite athletic performance. American Journal of Human Genetics 2003;73: 627–31.
Ulucan K. Literature Review of Turkish Sportsmen in Terms of ACTN3 R577X Polymorphism. Clin Exp Health Sci 2016; 6(1): 44-7.
North KN, Yang N, Wattanasirichaigoon D, Mills M, Easteal S, Beggs AH. A common nonsense mutation results in alpha-actinin-3 deficiency in the general population. Nature Genetics 1999; 21: 353-4.
Ahmetov II, Fedotovskaya ON. Current progress in sports genomics. Adv Clin Chem 2015;70:247-314.
Ulucan K, Göle S, Altindas N, Güney A. Preliminary Findings of α -Actinin-3 Gene Distribution in Elite Turkish Wind Surfers. Balkan J Med Genet 2013;16(1):69-72.
Papadimitriou D, Lucia A, Pitsiladis YP, Pushkarev VP, Dmitry A. Dyatlov, Evgeniy F. Orekhov, Guilherme G. Artioli, Joí£o Paulo L. F. Guilherme, ACTN3 R577X and ACE I/D gene variants influence performance in elite sprinters: a multi-cohort study. BMC Genomics 2016;17:285.
Santiago C, González-Freire M, Serratosa L, Morate FJ, Meyer T, Gómez-Gallego F, Lucia A. ACTN3 genotype in professional soccer players. Br J Sports Med 2008;42(1): 71-3.
Guney AI, Ergec D, Kirac D, Ozturhan H, Caner M, Koc G, et al. Effects of ACE polymorphisms and other risk factors on the severity of coronary artery disease. Genet Mol Res 2013;12(4):6895-906.
Zhang B, Tanaka H, Shono N, Miura S, Kiyonaga A, Shindo M, et al. The I allele of the angiotensin-converting enzyme gene is associated with an increased percentage of slow-twitch type I fibers in human skeletal muscle. Clin Genet 2003; 63(2):139-44.
Cieszczyk P, Krupecki K, Maciejewska A, Sawczuk M. The angiotensin converting enzyme gene I/D polymorphism in Polish rowers. Int J Sports Med 2009;30(8):624-7.
Sercan C, Eken BF, Erel S, íœlgüt D, Kapıcı S, Ulucan K. Spor Geneti̇gi ve ACE Gen ć°lişki̇si̇. Journal of Physical Education and Sport Sciences 2016;3(2):26-34.
Scott RA, Irving R, Irwin L, Morrison E, Charlton V, Austin K, et al. ACTN3 and ACE Genotypes in Elite Jamaican and US Sprinters. Med Sci Sports Exerc 2010;42(1):107-12.
í‡am FS, í‡olakoğlu M, í‡olakoğlu Åž, Berdeli A. The ACE I/D gene polymorphism and physical performance in a non-elite female cohort. Turkish journal of sports medicine 2005;40(1):1-8.
Cam S, Colakoglu M, Colakoglu S, Sekuri C, Berdeli A. ACE I/D gene polymorphism and aerobic endurance development in response to training in a non-elite female cohort. J Sports Med Phys Fitness 2007; 47(2):234-8.
Yang R, Shen X, Wang Y., Voısın S., Caı G., Fu Y., et al. ACTN3 R577X gene variant is associated with muscle-related phenotypes in elite chinese sprint/power athletes. Journal of Strength and Conditioning Research 2016; 31(4):1107–15.
Eynon N, Banting LK, Ruiz JR, Cieszczyk P, Dyatlov DA, Maciejewska-Karlowska A, et al. ACTN3 R577X polymorphism and team-sport performance: a study involving three European cohorts. J Sci Med Sport 2014; 17(1):102-6.
Kikuchi N, Miyamoto-Mikami E, Murakami H, Nakamura T, Min SK, Mizuno M. ACTN3 R577X genotype and athletic performance in a large cohort of Japanese athletes. Eur J Sport Sci 2016;16(6):694-701.
Kim H, Song KH, Kim CH. The ACTN3 R577X variant in sprint and strength performance J Exerc Nutrition Biochem 2014;18(4):347-53.
Sanlısoy F, Altıntas N, Buyukyazı G, Candan N. Investigation of ACTN3 R577X genotype distribution of elite athletes in the Aegean region. Cumhuriyet Med J 2011;33:153-9.
Günel T, Gümüşoğlu E, Hosseını MK, Yılmazyıldırım E, Dölekçap I, Aydınlı K. Effect of angiotensin I-converting enzyme and α-actinin-3 gene polymorphisms on sport performance. Molecular Medıcıne Reports 2014;9:1422-6.
Ulucan K, Bayyurt GM, Konuk M, Güney AI. Effect of alpha-actinin-3 gene on trained and untrained Turkish middle-school children's sprinting performance: a pilot study. Biological Rhythm Research 2014;45(4):509–14.
Eroğlu O, Zileli R. The Effect Of Genetic Factors On Sportive Performance. IJSETS 2015;1(1):63-76.