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Distribution of Alpha-Actinin-3 (ACTN3) rs1815739 Polymorphism in HADO Athletes

Yıl 2024, Cilt: 9 Sayı: 2, 64 - 71, 26.12.2024

Öz

There is growing interest in studying the genetic profile of high-performing athletes and how these genetic factors impact their athletic abilities. ACTN3 is a highly influential gene in determining athletic capabilities. The ACTN3 rs1815739 variant is found on chromosome 11 (11q13.1) and is caused by a switch from cytosine to thymine in exon 16. This study aims to examine the ACTN3 rs1815739 genetic variant in HADO athletes. Eight HADO athletes participated in this study. After isolating DNA from buccal epithelial cells, genotyping was performed using Real-Time PCR (PCR). Genotype distribution among athletes was 4 (50%) CC, 2 (25%) CT, and 2 (25%) TT. In the control group, genotypes were 15 (50%) CC, 8 (26.7%) CT, and 7 (23.3%) TT. There was no significant difference between groups (p=1.000). Allele distribution in athletes was 10 (62.5%) C and 6 (37.5%) T, while the control group had 38 (63.3%) C and 22 (36.7%) T alleles. The statistical comparison showed no significant difference (p=0.951). The results showed that the CC genotype was higher compared to the CT and TT genotypes. At the same time, the C allele was also found. percent higher than the T allele. Research has shown that the C allele is associated with sprinting/strength sports. This is the first study of athletic performance in HADO athletes.

Kaynakça

  • Akçamlı, D., Sipahi, S., Yüksel, İ., Kavas, N. C., Polat, T., Sercan, C., Kapıcı, S., Eken, B. F., & Ulucan, K. (2018). Futbolcularda Peroksizom Proliferatör – Aktive Reseptör Alfa rs4253778 Polimorfizm Dağılımının Belirlenmesi. Eurasian Research in Sport Science, 3(2), 75-79. https://doi.org/10.22396/ERISS.2018.37
  • Araki, H., Fukuda, H., Motoki, T., Takeuchi, T., Ohta, N., Adachi, R., ... & Kakeya, N. (2017). “HADO” as Techno Sports was born by the fusion of IT technology and sports. ReVo, 36-40.
  • Çorak, A., Kapıcı, S., Sercan, C., & 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. https://doi.org/10.14715/cmb/2017.63.5.6
  • Egorova, E. S., Borisova, A. V., Mustafina, L. J., Arkhipova, A. A., Gabbasov, R. T., Druzhevskaya, A. M., Astratenkova, I. V., & Ahmetov, I. I. (2014). The polygenic profile of Russian football players. J Sports Sci., 32(13), 1286–1293. https://doi.org/10.1080/02640414.2014.898853
  • Eroğlu, O., Zileli, R., Nalbant, M. A., & Ulucan, K. (2018). 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, 64(5), 24–28. https://doi.org/10.14715/cmb/2018.64.5.4
  • Kikuchi, N., & Nakazato, K. (2015). Effective utilization of genetic information for athletes and coaches: focus on ACTN3 R577X polymorphism. Journal of exercise nutrition & biochemistry, 19(3), 157-164. https://doi.org/10.5717/jenb.2015.15093001
  • Kikuchi, N., Miyamoto-Mikami, E., Murakami, H., Nakamura, T., Min, S.K., Mizuno, M., Naito, H., Miyachi, M., Nakazato, K., & Fuku, N. (2016) ACTN3 R577X genotype and athletic performance in a large cohort of Japanese athletes. European Journal of Sport Science, 16(6), 694-701. https://doi.org/10.1080/17461391.2015.1071879
  • MacArthur, D. G., & North, K. N. (2005). Genes and human elite athletic performance. Human genetics, 116(5), 331-339. https://doi.org/10.1007/s00439-005-1261-8
  • Murphy, A. C., & Young, P. W. (2015). The actinin family of actin cross-linking proteins – a genetic perspective. Cell & Bioscience, 5, 49. https://doi.org/10.1186/s13578-015-0029-7
  • Mutlucan, H., Bıyıklı, T., Eken, B. F., Sercan, C., Kapıcı, S., & Ulucan, K. (2017). Türk Profesyonel Futbolcularda Alfa-Aktinin-3N R577 X Polimorfizminin İncelenmesi. Marmara Üniversitesi Spor Bilimleri Dergisi, 2(2), 1-7. https://doi.org/10.22396/sbd.2017.26
  • Otey, C. A., & Carpen, O. (2004). Alpha-actinin revisited: a fresh look at an old player. Cell Motil Cytoskeleton, 58(2), 104-11. https://doi.org/10.1002/cm.20007
  • Pickering, C., Kiely, J., Grgic, J., Lucia, A., & Del Coso, J. (2019). Can Genetic Testing Identify Talent for Sport? Genes, 10(12), 972. https://doi.org/10.3390/genes10120972
  • Polat, T., Dogan, C. S., Dogan, M., Akçay, T., & Ulucan, K. (2020). Distribution of α actinin 3 rs1815739 and angiotensin 1 converting enzyme InDel polymorphisms in Turkish bodybuilders. Biomedical Reports, 13(6), 67. https://doi.org/10.3892/br.2020.1374
  • Pranckeviciene, E., Gineviciene, V., Jakaitiene, A., Januska, L., & Utkus, A. (2021). Total Genotype Score Modelling of Polygenic Endurance-Power Profiles in Lithuanian Elite Athletes. Genes, 12(7):1067. https://doi.org/10.3390/genes12071067
  • Seto, J. T., Quinlan, K. G., Lek, M., Zheng, X. F., Garton, F., MacArthur, D. G., Hogarth, M.W., Houweling, P. J., Gregorevic, P., Turner, N., Cooney, G. J., Yang, N., & North, K. N. (2013). ACTN3 genotype influences muscle performance through the regulation of calcineurin signaling. J Clin Invest, 123(10), 4255-63. https://doi.org/10.1172/JCI67691
  • Söyler, M., Zileli, R., Özkamçı, H., Diker, G., Sever, M. O., Bayrakdaroglu, S., ... & Yılmaz, Ö. Ö. (2024). Sprint and Anaerobic Power with the Soccer-Specific ACTN3 Gene: A Distintive Example. Int. J. Morphol, 42(2), 538-548. Ulucan, K. (2016). Literature Review of Turkish Sportsmen in Terms of ACTN3 R577X Polymorphism. Clinical and Experimental Health Sciences, 6(1): 44–47. https://doi.org/10.5152/clinexphealthsci.2016.059
  • Ulucan, K., Bayyurt, G. M., Konuk, M., & Güney, A. İ. (2014). Effect of alpha-actinin-3 gene on Turkish trained and untrained middle school children’s sprinting performance: a pilot study. Biological Rhythm Research, 45(4), 509-514. https://doi.org/10.1080/09291016.2013.867628
  • Ulucan, K., Göle, S., Altindas, N., & Güney, A. (2013). Preliminary Findings of α -Actinin-3 Gene Distribution in Elite Turkish Wind Surfers. Balkan journal of medical genetics, 16(1), 69–72. https://doi.org/10.2478/bjmg-2013-0020
  • Yang, R., Jin, F., Wang, L., Shen, X., Guo, Q., Song, H., Hu, J., Zhao, Q., Wan, J., & Cai, M. (2021). Prediction and Identification of Power Performance Using Polygenic Models of Three Single-Nucleotide Polymorphisms in Chinese Elite Athletes. Frontiers in genetics, 12(726552), 1858. https://doi.org/10.3389/fgene.2021.726552

HADO Sporcularında Alfa-Aktin-3 (ACTN3) rs1815739 Polimorfizminin Dağılımı

Yıl 2024, Cilt: 9 Sayı: 2, 64 - 71, 26.12.2024

Öz

Yüksek performanslı sporcuların genetik profillerinin incelenmesine ve bu genetik faktörlerin atletik yeteneklerini nasıl etkilediğine yönelik ilgi artmaktadır. ACTN3, atletik yetenekleri belirlemede oldukça etkili bir gendir. ACTN3 rs1815739 varyantı 11. kromozomda (11q13.1) bulunur ve ekson 16'da sitozinden timine geçiş nedeniyle oluşur. Bu çalışma, HADO sporcularındaki ACTN3 rs1815739 genetik varyantını incelemeyi amaçlamaktadır. Bu çalışmaya sekiz HADO sporcusu katıldı. Bukkal epitel hücrelerinden DNA izole edildikten sonra, Real-Time PCR (PCR) kullanılarak genotipleme yapıldı. Sporcular arasındaki genotip dağılımı 4 (%50) CC, 2 (%25) CT ve 2 (%25) TT idi. Kontrol grubunda genotipler 15 (%50) CC, 8 (%26,7) CT ve 7 (%23,3) TT idi. Gruplar arasında anlamlı bir fark yoktu (p=1,000). Sporculardaki alel dağılımı 10 (%62,5) C ve 6 (%37,5) T iken, kontrol grubunda 38 (%63,3) C ve 22 (%36,7) T aleli vardı. İstatistiksel karşılaştırma anlamlı bir fark göstermedi (p=0,951). Sonuçlar CC genotipinin CT ve TT genotiplerine kıyasla daha yüksek olduğunu gösterdi. Aynı zamanda C aleli de T alelinden yüzde daha yüksek bulundu. Araştırmalar C alelinin sprint/güç sporları ile ilişkili olduğunu göstermiştir. Çalışmamız, HADO sporcularında atletik performans üzerine yapılan ilk çalışmadır.

Kaynakça

  • Akçamlı, D., Sipahi, S., Yüksel, İ., Kavas, N. C., Polat, T., Sercan, C., Kapıcı, S., Eken, B. F., & Ulucan, K. (2018). Futbolcularda Peroksizom Proliferatör – Aktive Reseptör Alfa rs4253778 Polimorfizm Dağılımının Belirlenmesi. Eurasian Research in Sport Science, 3(2), 75-79. https://doi.org/10.22396/ERISS.2018.37
  • Araki, H., Fukuda, H., Motoki, T., Takeuchi, T., Ohta, N., Adachi, R., ... & Kakeya, N. (2017). “HADO” as Techno Sports was born by the fusion of IT technology and sports. ReVo, 36-40.
  • Çorak, A., Kapıcı, S., Sercan, C., & 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. https://doi.org/10.14715/cmb/2017.63.5.6
  • Egorova, E. S., Borisova, A. V., Mustafina, L. J., Arkhipova, A. A., Gabbasov, R. T., Druzhevskaya, A. M., Astratenkova, I. V., & Ahmetov, I. I. (2014). The polygenic profile of Russian football players. J Sports Sci., 32(13), 1286–1293. https://doi.org/10.1080/02640414.2014.898853
  • Eroğlu, O., Zileli, R., Nalbant, M. A., & Ulucan, K. (2018). 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, 64(5), 24–28. https://doi.org/10.14715/cmb/2018.64.5.4
  • Kikuchi, N., & Nakazato, K. (2015). Effective utilization of genetic information for athletes and coaches: focus on ACTN3 R577X polymorphism. Journal of exercise nutrition & biochemistry, 19(3), 157-164. https://doi.org/10.5717/jenb.2015.15093001
  • Kikuchi, N., Miyamoto-Mikami, E., Murakami, H., Nakamura, T., Min, S.K., Mizuno, M., Naito, H., Miyachi, M., Nakazato, K., & Fuku, N. (2016) ACTN3 R577X genotype and athletic performance in a large cohort of Japanese athletes. European Journal of Sport Science, 16(6), 694-701. https://doi.org/10.1080/17461391.2015.1071879
  • MacArthur, D. G., & North, K. N. (2005). Genes and human elite athletic performance. Human genetics, 116(5), 331-339. https://doi.org/10.1007/s00439-005-1261-8
  • Murphy, A. C., & Young, P. W. (2015). The actinin family of actin cross-linking proteins – a genetic perspective. Cell & Bioscience, 5, 49. https://doi.org/10.1186/s13578-015-0029-7
  • Mutlucan, H., Bıyıklı, T., Eken, B. F., Sercan, C., Kapıcı, S., & Ulucan, K. (2017). Türk Profesyonel Futbolcularda Alfa-Aktinin-3N R577 X Polimorfizminin İncelenmesi. Marmara Üniversitesi Spor Bilimleri Dergisi, 2(2), 1-7. https://doi.org/10.22396/sbd.2017.26
  • Otey, C. A., & Carpen, O. (2004). Alpha-actinin revisited: a fresh look at an old player. Cell Motil Cytoskeleton, 58(2), 104-11. https://doi.org/10.1002/cm.20007
  • Pickering, C., Kiely, J., Grgic, J., Lucia, A., & Del Coso, J. (2019). Can Genetic Testing Identify Talent for Sport? Genes, 10(12), 972. https://doi.org/10.3390/genes10120972
  • Polat, T., Dogan, C. S., Dogan, M., Akçay, T., & Ulucan, K. (2020). Distribution of α actinin 3 rs1815739 and angiotensin 1 converting enzyme InDel polymorphisms in Turkish bodybuilders. Biomedical Reports, 13(6), 67. https://doi.org/10.3892/br.2020.1374
  • Pranckeviciene, E., Gineviciene, V., Jakaitiene, A., Januska, L., & Utkus, A. (2021). Total Genotype Score Modelling of Polygenic Endurance-Power Profiles in Lithuanian Elite Athletes. Genes, 12(7):1067. https://doi.org/10.3390/genes12071067
  • Seto, J. T., Quinlan, K. G., Lek, M., Zheng, X. F., Garton, F., MacArthur, D. G., Hogarth, M.W., Houweling, P. J., Gregorevic, P., Turner, N., Cooney, G. J., Yang, N., & North, K. N. (2013). ACTN3 genotype influences muscle performance through the regulation of calcineurin signaling. J Clin Invest, 123(10), 4255-63. https://doi.org/10.1172/JCI67691
  • Söyler, M., Zileli, R., Özkamçı, H., Diker, G., Sever, M. O., Bayrakdaroglu, S., ... & Yılmaz, Ö. Ö. (2024). Sprint and Anaerobic Power with the Soccer-Specific ACTN3 Gene: A Distintive Example. Int. J. Morphol, 42(2), 538-548. Ulucan, K. (2016). Literature Review of Turkish Sportsmen in Terms of ACTN3 R577X Polymorphism. Clinical and Experimental Health Sciences, 6(1): 44–47. https://doi.org/10.5152/clinexphealthsci.2016.059
  • Ulucan, K., Bayyurt, G. M., Konuk, M., & Güney, A. İ. (2014). Effect of alpha-actinin-3 gene on Turkish trained and untrained middle school children’s sprinting performance: a pilot study. Biological Rhythm Research, 45(4), 509-514. https://doi.org/10.1080/09291016.2013.867628
  • Ulucan, K., Göle, S., Altindas, N., & Güney, A. (2013). Preliminary Findings of α -Actinin-3 Gene Distribution in Elite Turkish Wind Surfers. Balkan journal of medical genetics, 16(1), 69–72. https://doi.org/10.2478/bjmg-2013-0020
  • Yang, R., Jin, F., Wang, L., Shen, X., Guo, Q., Song, H., Hu, J., Zhao, Q., Wan, J., & Cai, M. (2021). Prediction and Identification of Power Performance Using Polygenic Models of Three Single-Nucleotide Polymorphisms in Chinese Elite Athletes. Frontiers in genetics, 12(726552), 1858. https://doi.org/10.3389/fgene.2021.726552
Toplam 19 adet kaynakça vardır.

Ayrıntılar

Birincil Dil İngilizce
Konular Egzersiz ve Spor Bilimleri (Diğer)
Bölüm 2024 Aralık
Yazarlar

Beste Tacal Aslan 0000-0001-5271-7917

Dudu Banu Yozgatlı 0000-0002-0092-3062

Özlem Özge Yılmaz 0000-0002-4085-6159

Tolga Polat 0000-0002-2064-6613

Rıdvan Ekmekçi 0000-0001-5085-5988

Korkut Ulucan 0000-0002-1304-9386

Yayımlanma Tarihi 26 Aralık 2024
Gönderilme Tarihi 14 Haziran 2024
Kabul Tarihi 19 Eylül 2024
Yayımlandığı Sayı Yıl 2024 Cilt: 9 Sayı: 2

Kaynak Göster

APA Tacal Aslan, B., Yozgatlı, D. B., Yılmaz, Ö. Ö., Polat, T., vd. (2024). Distribution of Alpha-Actinin-3 (ACTN3) rs1815739 Polymorphism in HADO Athletes. Eurasian Research in Sport Science, 9(2), 64-71.