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Which Polymorphism Is The Distinguishing Factor For Fitness Athletes: The Ace Indel or Actn3 rs1815739?

Year 2024, , 319 - 326, 31.05.2024
https://doi.org/10.30621/jbachs.1264683

Abstract

Purpose: The purpose of this research is to investigate the occurrence of ACE I/D and ACTN3 rs1815739 variations in sub-elite fitness athletes and to determine which gene is distinctive by comparing genotype and allele frequencies with sedentary individuals.
Material and Methods: 41 sub-elite fitness athletes and 41 sedentary volunteers participated in the study. Genetic analyzes of the athletes were determined using molecular-based methods such as DNA isolation using a commercial kit, Real-time polymerase chain reaction (Real-Time PCR), and Polymerase chain reaction (PCR) after blood collection in EDTA tubes. The Chi-Square test was used to compare the genotype distribution and I, D, C, and T allele frequencies of ACE I/D and ACTN3 rs1815739 polymorphisms for statistical significance.
Results: Analysis of data from our study revealed no statistically significant differences in ACE I/D polymorphisms between groups (p=0.4438), but statistically significant differences in ACTN3 rs1815739 polymorphisms significant difference (p=0.0313).
Conclusion: In conclusion, in our study, it can be said that the ACTN3 gene is a distinguishing factor in fitness.

Supporting Institution

This work was supported by the Scientific Research Organization of Xxxxxxx Xxxx Xxxxxxxx University.

Project Number

(2015-02.XXXX.13-01)

References

  • Corak 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(5): 29-31.
  • Melián Ortiz A, Laguarta-Val S, Varillas-Delgado D. Muscle work and its relationship with ACE and ACTN3 polymorphisms are associated with the improvement of explosive strength. Genes. 2021;12(8): 1177.
  • Ulucan K, Topal ES, Aksulu BK, Yaman B, Çiftci İC, Bıyıklı T. Atletic Performance, Genetics and Gene Doping. IKSST J. 2015;7(2):58-62.
  • Gineviciene V, Jakaitiene A, Aksenov MO, Aksenova AV, Druzhevskaya AM, Astratenkova IV, Utkus A. Association analysis of ACE, ACTN3 and PPARGC1A gene polymorphisms in two cohorts of European strength and power athletes. Biology of Sport. 2016;33(3):199-206.
  • Bulgay C, Kasakolu A, Kazan HH, Mijaica R, Zorba E, Akman O, Bayraktar I, Ekmekci R, Koncagul S, Ulucan K, et al. Exome-Wide Association Study of Competitive Performance in Elite Athletes. Genes. 2023; 14(3):660. 6.Semenova EA, Hall ECR, Ahmetov II. Genes and Athletic Performance: The 2023 Update. Genes. 2023; 14(6):1235.
  • Dogan M, Aslan BT, Ulucan K. Comparison of potential biomarker, ACTN3 rs1815739 polymorphism, for athletic performance of Turkish athletes. Cellular and Molecular Biology. 2022;68(5):54-59.
  • Eroğlu O, Zileli R, Ali Nalbant M, Ulucan K. Prevalence of alpha actinin-3 gene (ACTN3) R577X and angiotensin converting enzyme (ACE) insertion/deletion gene polymorphisms in national and amateur Turkish athletes. Cellular and Molecular Biology. 2018;64(5):24-28.
  • Ahmetov II, Fedotovskaya ON. Current progress in sports genomics. Advances in Clinical Chemistry. 2015;70:247-314.
  • Hughes DC, Day SH, Ahmetov II, Williams AG. Genetics of muscle strength and power: polygenic profile similarity limits skeletal muscle performance. Journal of Sports Sciences. 2011;29(13): 1425-1434.
  • Scott RA, Irving R, Irwin L, Morrison E, Charlton V, Austin K, Pitsiladis YP. ACTN3 and ACE genotypes in elite Jamaican and US sprinters. Medicine & Science in Sports & Exercise. 2011;42(1):107-112.
  • .Woods DR, Humphries SE, Montgomery HE. The ACE I/D polymorphism and human physical performance. Trends in Endocrinology & Metabolism. 2000;11(10):416-420.
  • Goessler KF, Cornelissen VA, de Oliveira EM, de F Mota G, Polito MD. ACE polymorphisms and the acute response of blood pressure to a walk in medicated hypertensive patients. Journal of the Renin-Angiotensin-Aldosterone System. 2015;16(4):720-729.
  • Pescatello LS, Kostek MA, Gordish-Dressman H, Thompson PD, Seip RL, Price TB, Hoffman EP. ACE ID genotype and the muscle strength and size response to unilateral resistance training. Medicine & Science in Sports & Exercise. 2006;38(6):1074-1081.
  • Drozdovska SB, Dosenko VE, Ahmetov II, Ilyin VN. The association of gene polymorphisms with athlete status in Ukrainians. Biology of Sport. 2013;30(3):163-167.
  • 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):509-514.
  • Eynon N, Ruiz JR, Femia P, Pushkarev VP, Cieszczyk P, Maciejewska-Karlowska A, Lucia A. The ACTN3 R577X polymorphism across three groups of elite male European athletes. PLoS ONE. 2012;7(8): e43132. https://doi.org/10.1371/journal.pone.00431322012.
  • Vincent B, De Bock K, Ramaekers M, Van den Eede E, Van Leemputte M, Hespel P, Thomis MA. ACTN3 (R577X) genotype is associated with fiber type distribution. Physiological genomics. 2007; 32(1):58-63.
  • Ulucan K. Literature review of Turkish sportsmen in terms of ACTN3 R577X polymorphism. Clinical and Experimental Health Sciences. 2016; 6(1), 144-147.
  • Guney AI, Ergec D, Kirac D, Ozturhan H, Caner M, Koc G, Kaspar K, Ulucan K, Agirbasli M. Effects of ACE polymorphisms and other risk factors on the severity of coronary artery disease. Genet Mol Res. 2013;12:6895–6906.
  • Damas F, Phillips S, Vechin FC, Ugrinowitsch C. A review of resistance training-induced changes in skeletal muscle protein synthesis and their contribution to hypertrophy. Sports Medicine. 2015;45: 801-807.
  • Cieszczyk P, Sawczuk M, Maciejewska-Karlowska A, Ficek K. ACTN3 R577X polymorphism in top-level Polish rowers. Journal of Exercise Science & Fitness. 2012;10(1):12-15.
  • Yang N, MacArthur DG, Gulbin JP, Hahn AG, Beggs AH, Easteal S, North K. ACTN3 genotype is associated with human elite athletic performance. The American Journal of Human Genetics. 2003;73(3): 627-631.
  • Polat T, Dogan CS, Dogan M, Akcay T, Ulucan K. Distribution of α‑actinin‑3 rs1815739 and angiotensin‑1 converting enzyme InDel polymorphisms in Turkish bodybuilders. Biomedical Reports. 2020;13(6):1-1.
  • Muhan A, Polat T, Yılmaz ÖÖ, Tacal Aslan B, Ulucan K. Investigation of ACTN3 rs1815739 polymorphism, physical characteristics, and position—relation in football players: A team sample. Research in Sport Education and Sciences. 2023;25(1):14-18.
  • Kim CH, Cho JY, Jeon JY, Koh YG, Kim YM, Kim HJ, Kim C. ACE DD genotype is unfavorable to Korean short-term muscle power athletes. International journal of sports medicine. 2010;31(01):65-71.
  • Papadimitriou ID, Lucia A, Pitsiladis YP, Pushkarev VP, Dyatlov DA, Orekhov EF, Eynon N. ACTN3 R577X and ACE I/D gene variants influence performance in elite sprinters: a multi-cohort study. BMC Genomics. 2016;17(1):1-8.
  • Cam S, Colakoğlu M, Colakoğlu S, 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.
  • Shahmoradi S, Ahmadalipour A, Salehi M. Evaluation of ACE gene I/D polymorphism in Iranian elite athletes. Advanced Biomedical Research. 2014;3:207.
  • Wang G, Mikami E, Chiu LL, De Perini A, Deason M, Fuku N, Galloway SD. Association analysis of ACE and ACTN3 in elite Caucasian and East Asian swimmers. Medicine and Science in Sports and Exercise. 2013;45(5):892-900.
  • Norman B, Esbjornsson M, Rundqvist H, Osterlund T, Von Walden F, Tesch P. A. Strength, power, fiber types, and mRNA expression in trained men and women with different ACTN3 R577X genotypes. Journal of Applied Physiology. 2009;106(3):959-965.
  • Gómez-Gallego F, Santiago C, González-Freire M, Muniesa CA, Del Valle MF, Perez M, Lucia A. Endurance performance: genes or gene combinations?. International Journal of Sports Medicine. 2009;30(01):66-72.
  • Djarova T, Watson G, Basson A, Grace J, Cloete J, Ramakoaba A. ACTN3 and TNF gene polymorphism association with C-reactive protein, uric acid, lactate and physical characteristics in young African cricket players. Afr J Biochem Res. 2011;5(1):22-27.
  • Papadimitriou ID, Papadopoulos C, Kouvatsi A, Triantaphyllidis C. The ACTN3 gene in elite Greek track and field athletes. International Journal of Sports Medicine. 2008;29(04):352-355.
  • Yang N, Macarthur D, Wolde B, Onywera VO, Boit MK, Wilson RH, North K. ACTN3 genotype ıs not associated with elite endurance athlete status in Ethiopians and Kenyans. Medicine & Science in Sports & Exercise. 2005;37(5):472.
  • Schneider AJ, Rupert JL. Constructing winners: The science and ethics of genetically manipulating athletes. Journal of the Philosophy of Sport. 2009;36(2):182-206.
  • Druzhevskaya AM, Ahmetov II, Astratenkova IV, Rogozkin VA. Association of the ACTN3 R577X polymorphism with power athlete status in Russians. European Journal of Applied Physiology. 2008; 103(6):631-634.
  • Fiuza-Luces C, Ruiz JR, Rodríguez-Romo G, Santiago C, Gómez-Gallego F, Yvert T, Lucia A. Are ‘endurance’alleles ‘survival’alleles? Insights from the ACTN3 R577X polymorphism. PloS One. 2011;6(3): e17558.
  • Lucia A, Oliván J, Gómez-Gallego F, Santiago C, Montil M, Foster C. Citius and longius (faster and longer) with no α-actinin-3 in skeletal muscles?. British Journal of Sports Medicine. 2007;41(9):616-617.

Which Polymorphism Is The Distinguishing Factor For Fitness Athletes: The Ace Indel or Actn3 rs1815739?

Year 2024, , 319 - 326, 31.05.2024
https://doi.org/10.30621/jbachs.1264683

Abstract

Project Number

(2015-02.XXXX.13-01)

References

  • Corak 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(5): 29-31.
  • Melián Ortiz A, Laguarta-Val S, Varillas-Delgado D. Muscle work and its relationship with ACE and ACTN3 polymorphisms are associated with the improvement of explosive strength. Genes. 2021;12(8): 1177.
  • Ulucan K, Topal ES, Aksulu BK, Yaman B, Çiftci İC, Bıyıklı T. Atletic Performance, Genetics and Gene Doping. IKSST J. 2015;7(2):58-62.
  • Gineviciene V, Jakaitiene A, Aksenov MO, Aksenova AV, Druzhevskaya AM, Astratenkova IV, Utkus A. Association analysis of ACE, ACTN3 and PPARGC1A gene polymorphisms in two cohorts of European strength and power athletes. Biology of Sport. 2016;33(3):199-206.
  • Bulgay C, Kasakolu A, Kazan HH, Mijaica R, Zorba E, Akman O, Bayraktar I, Ekmekci R, Koncagul S, Ulucan K, et al. Exome-Wide Association Study of Competitive Performance in Elite Athletes. Genes. 2023; 14(3):660. 6.Semenova EA, Hall ECR, Ahmetov II. Genes and Athletic Performance: The 2023 Update. Genes. 2023; 14(6):1235.
  • Dogan M, Aslan BT, Ulucan K. Comparison of potential biomarker, ACTN3 rs1815739 polymorphism, for athletic performance of Turkish athletes. Cellular and Molecular Biology. 2022;68(5):54-59.
  • Eroğlu O, Zileli R, Ali Nalbant M, Ulucan K. Prevalence of alpha actinin-3 gene (ACTN3) R577X and angiotensin converting enzyme (ACE) insertion/deletion gene polymorphisms in national and amateur Turkish athletes. Cellular and Molecular Biology. 2018;64(5):24-28.
  • Ahmetov II, Fedotovskaya ON. Current progress in sports genomics. Advances in Clinical Chemistry. 2015;70:247-314.
  • Hughes DC, Day SH, Ahmetov II, Williams AG. Genetics of muscle strength and power: polygenic profile similarity limits skeletal muscle performance. Journal of Sports Sciences. 2011;29(13): 1425-1434.
  • Scott RA, Irving R, Irwin L, Morrison E, Charlton V, Austin K, Pitsiladis YP. ACTN3 and ACE genotypes in elite Jamaican and US sprinters. Medicine & Science in Sports & Exercise. 2011;42(1):107-112.
  • .Woods DR, Humphries SE, Montgomery HE. The ACE I/D polymorphism and human physical performance. Trends in Endocrinology & Metabolism. 2000;11(10):416-420.
  • Goessler KF, Cornelissen VA, de Oliveira EM, de F Mota G, Polito MD. ACE polymorphisms and the acute response of blood pressure to a walk in medicated hypertensive patients. Journal of the Renin-Angiotensin-Aldosterone System. 2015;16(4):720-729.
  • Pescatello LS, Kostek MA, Gordish-Dressman H, Thompson PD, Seip RL, Price TB, Hoffman EP. ACE ID genotype and the muscle strength and size response to unilateral resistance training. Medicine & Science in Sports & Exercise. 2006;38(6):1074-1081.
  • Drozdovska SB, Dosenko VE, Ahmetov II, Ilyin VN. The association of gene polymorphisms with athlete status in Ukrainians. Biology of Sport. 2013;30(3):163-167.
  • 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):509-514.
  • Eynon N, Ruiz JR, Femia P, Pushkarev VP, Cieszczyk P, Maciejewska-Karlowska A, Lucia A. The ACTN3 R577X polymorphism across three groups of elite male European athletes. PLoS ONE. 2012;7(8): e43132. https://doi.org/10.1371/journal.pone.00431322012.
  • Vincent B, De Bock K, Ramaekers M, Van den Eede E, Van Leemputte M, Hespel P, Thomis MA. ACTN3 (R577X) genotype is associated with fiber type distribution. Physiological genomics. 2007; 32(1):58-63.
  • Ulucan K. Literature review of Turkish sportsmen in terms of ACTN3 R577X polymorphism. Clinical and Experimental Health Sciences. 2016; 6(1), 144-147.
  • Guney AI, Ergec D, Kirac D, Ozturhan H, Caner M, Koc G, Kaspar K, Ulucan K, Agirbasli M. Effects of ACE polymorphisms and other risk factors on the severity of coronary artery disease. Genet Mol Res. 2013;12:6895–6906.
  • Damas F, Phillips S, Vechin FC, Ugrinowitsch C. A review of resistance training-induced changes in skeletal muscle protein synthesis and their contribution to hypertrophy. Sports Medicine. 2015;45: 801-807.
  • Cieszczyk P, Sawczuk M, Maciejewska-Karlowska A, Ficek K. ACTN3 R577X polymorphism in top-level Polish rowers. Journal of Exercise Science & Fitness. 2012;10(1):12-15.
  • Yang N, MacArthur DG, Gulbin JP, Hahn AG, Beggs AH, Easteal S, North K. ACTN3 genotype is associated with human elite athletic performance. The American Journal of Human Genetics. 2003;73(3): 627-631.
  • Polat T, Dogan CS, Dogan M, Akcay T, Ulucan K. Distribution of α‑actinin‑3 rs1815739 and angiotensin‑1 converting enzyme InDel polymorphisms in Turkish bodybuilders. Biomedical Reports. 2020;13(6):1-1.
  • Muhan A, Polat T, Yılmaz ÖÖ, Tacal Aslan B, Ulucan K. Investigation of ACTN3 rs1815739 polymorphism, physical characteristics, and position—relation in football players: A team sample. Research in Sport Education and Sciences. 2023;25(1):14-18.
  • Kim CH, Cho JY, Jeon JY, Koh YG, Kim YM, Kim HJ, Kim C. ACE DD genotype is unfavorable to Korean short-term muscle power athletes. International journal of sports medicine. 2010;31(01):65-71.
  • Papadimitriou ID, Lucia A, Pitsiladis YP, Pushkarev VP, Dyatlov DA, Orekhov EF, Eynon N. ACTN3 R577X and ACE I/D gene variants influence performance in elite sprinters: a multi-cohort study. BMC Genomics. 2016;17(1):1-8.
  • Cam S, Colakoğlu M, Colakoğlu S, 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.
  • Shahmoradi S, Ahmadalipour A, Salehi M. Evaluation of ACE gene I/D polymorphism in Iranian elite athletes. Advanced Biomedical Research. 2014;3:207.
  • Wang G, Mikami E, Chiu LL, De Perini A, Deason M, Fuku N, Galloway SD. Association analysis of ACE and ACTN3 in elite Caucasian and East Asian swimmers. Medicine and Science in Sports and Exercise. 2013;45(5):892-900.
  • Norman B, Esbjornsson M, Rundqvist H, Osterlund T, Von Walden F, Tesch P. A. Strength, power, fiber types, and mRNA expression in trained men and women with different ACTN3 R577X genotypes. Journal of Applied Physiology. 2009;106(3):959-965.
  • Gómez-Gallego F, Santiago C, González-Freire M, Muniesa CA, Del Valle MF, Perez M, Lucia A. Endurance performance: genes or gene combinations?. International Journal of Sports Medicine. 2009;30(01):66-72.
  • Djarova T, Watson G, Basson A, Grace J, Cloete J, Ramakoaba A. ACTN3 and TNF gene polymorphism association with C-reactive protein, uric acid, lactate and physical characteristics in young African cricket players. Afr J Biochem Res. 2011;5(1):22-27.
  • Papadimitriou ID, Papadopoulos C, Kouvatsi A, Triantaphyllidis C. The ACTN3 gene in elite Greek track and field athletes. International Journal of Sports Medicine. 2008;29(04):352-355.
  • Yang N, Macarthur D, Wolde B, Onywera VO, Boit MK, Wilson RH, North K. ACTN3 genotype ıs not associated with elite endurance athlete status in Ethiopians and Kenyans. Medicine & Science in Sports & Exercise. 2005;37(5):472.
  • Schneider AJ, Rupert JL. Constructing winners: The science and ethics of genetically manipulating athletes. Journal of the Philosophy of Sport. 2009;36(2):182-206.
  • Druzhevskaya AM, Ahmetov II, Astratenkova IV, Rogozkin VA. Association of the ACTN3 R577X polymorphism with power athlete status in Russians. European Journal of Applied Physiology. 2008; 103(6):631-634.
  • Fiuza-Luces C, Ruiz JR, Rodríguez-Romo G, Santiago C, Gómez-Gallego F, Yvert T, Lucia A. Are ‘endurance’alleles ‘survival’alleles? Insights from the ACTN3 R577X polymorphism. PloS One. 2011;6(3): e17558.
  • Lucia A, Oliván J, Gómez-Gallego F, Santiago C, Montil M, Foster C. Citius and longius (faster and longer) with no α-actinin-3 in skeletal muscles?. British Journal of Sports Medicine. 2007;41(9):616-617.
There are 38 citations in total.

Details

Primary Language English
Subjects Health Care Administration
Journal Section Research Article
Authors

Onur Eroğlu 0000-0002-3451-8540

Raif Zileli 0000-0003-4178-5468

Muhammed Ali Nalbant 0000-0002-4713-1492

Tolga Polat 0000-0002-2064-6613

Özlem Özge Yılmaz 0000-0002-4085-6159

Beste Tacal Aslan 0000-0001-5271-7917

Korkut Ulucan 0000-0002-1304-9386

Project Number (2015-02.XXXX.13-01)
Publication Date May 31, 2024
Submission Date March 13, 2023
Published in Issue Year 2024

Cite

APA Eroğlu, O., Zileli, R., Nalbant, M. A., Polat, T., et al. (2024). Which Polymorphism Is The Distinguishing Factor For Fitness Athletes: The Ace Indel or Actn3 rs1815739?. Journal of Basic and Clinical Health Sciences, 8(2), 319-326. https://doi.org/10.30621/jbachs.1264683
AMA Eroğlu O, Zileli R, Nalbant MA, Polat T, Yılmaz ÖÖ, Tacal Aslan B, Ulucan K. Which Polymorphism Is The Distinguishing Factor For Fitness Athletes: The Ace Indel or Actn3 rs1815739?. JBACHS. May 2024;8(2):319-326. doi:10.30621/jbachs.1264683
Chicago Eroğlu, Onur, Raif Zileli, Muhammed Ali Nalbant, Tolga Polat, Özlem Özge Yılmaz, Beste Tacal Aslan, and Korkut Ulucan. “Which Polymorphism Is The Distinguishing Factor For Fitness Athletes: The Ace Indel or Actn3 rs1815739?”. Journal of Basic and Clinical Health Sciences 8, no. 2 (May 2024): 319-26. https://doi.org/10.30621/jbachs.1264683.
EndNote Eroğlu O, Zileli R, Nalbant MA, Polat T, Yılmaz ÖÖ, Tacal Aslan B, Ulucan K (May 1, 2024) Which Polymorphism Is The Distinguishing Factor For Fitness Athletes: The Ace Indel or Actn3 rs1815739?. Journal of Basic and Clinical Health Sciences 8 2 319–326.
IEEE O. Eroğlu, R. Zileli, M. A. Nalbant, T. Polat, Ö. Ö. Yılmaz, B. Tacal Aslan, and K. Ulucan, “Which Polymorphism Is The Distinguishing Factor For Fitness Athletes: The Ace Indel or Actn3 rs1815739?”, JBACHS, vol. 8, no. 2, pp. 319–326, 2024, doi: 10.30621/jbachs.1264683.
ISNAD Eroğlu, Onur et al. “Which Polymorphism Is The Distinguishing Factor For Fitness Athletes: The Ace Indel or Actn3 rs1815739?”. Journal of Basic and Clinical Health Sciences 8/2 (May 2024), 319-326. https://doi.org/10.30621/jbachs.1264683.
JAMA Eroğlu O, Zileli R, Nalbant MA, Polat T, Yılmaz ÖÖ, Tacal Aslan B, Ulucan K. Which Polymorphism Is The Distinguishing Factor For Fitness Athletes: The Ace Indel or Actn3 rs1815739?. JBACHS. 2024;8:319–326.
MLA Eroğlu, Onur et al. “Which Polymorphism Is The Distinguishing Factor For Fitness Athletes: The Ace Indel or Actn3 rs1815739?”. Journal of Basic and Clinical Health Sciences, vol. 8, no. 2, 2024, pp. 319-26, doi:10.30621/jbachs.1264683.
Vancouver Eroğlu O, Zileli R, Nalbant MA, Polat T, Yılmaz ÖÖ, Tacal Aslan B, Ulucan K. Which Polymorphism Is The Distinguishing Factor For Fitness Athletes: The Ace Indel or Actn3 rs1815739?. JBACHS. 2024;8(2):319-26.