A Pilot Study for the Determination of Angiotensin I-Converting Enzyme (ACE I/D) and Alpha-Actinin-3 (ACTN3 R577X) Polymorphisms in Young Basketball Players

Abstract

The aim of this study was to determine the allelic distribution of alpha- actinin-3 (ACTN3) R577X and angiotensin converting enzyme (ACE) I/D polymorphisms in a total of 24 elite young basketball players, 17 female and 7 male. DNA samples from the players were isolated from buccal cells by using commercial DNA isolation kit. Genotyping process for ACTN3 was carried out by polymerase chain reaction- restriction fragment length polymorphism (PCR- RFLP), and PCR for ACE. 16 of the examined players had RR, 6 had RX and 2 of the players had XX genotype for the ACTN3 R577X polymorphism. When we examine them according to genders, 11 of the 17 female players had RR, 4 had RX and 2 had XX genotypes. For males, 5 and 2 players had RR and RX genotypes, respectively. For ACE, 11 players were DD, 12 were ID and only one of them was II. 7 had DD and 10 had ID genotypes for the females; 4 had DD, 2 had ID and only one had II genotype. R allele of the ACTN3 was counted as 26 in females and 12 in males, whereas X allele was 8 in females and 2 in males. For ACE, D allele was counted as 24 in females and 10 in males, whereas I allele counted as 10 in females and 4 in males. Our results showed that ACTN3 RR genotype and R allele,ACE ID geotype and D allele dominated in our cohort. We hope that this first pilot study carried out in basketball players will guide further studies with extended numbers of players.

Keywords

• Basketball; polymorphism; ACTN3; ACE; sport

Genç Basketbolcularda Anjiotensin Dönüştürücü Enzim (ACE I/D) ve Alfa- Aktinin-3 (ACTN3 R577X) Gen Polimorfizmlerinin Belirlenmesi İçin Pilot Bir Çalışma

Abstract

Çalışmamızda 17’si kız, 7’ si erkek 24 genç basketbol oyuncusunda alfa- aktinin-3 (ACTN3) R577X ve anjiyotensin dönüştürücü enzim (ACE) I/D polimorfizmlerinin dağılımlarının belirlemeyi amaçladık. Çalışmamıza gönüllü katılan oyunculardan DNA eldesi, ağız içi epitel hücrelerinden ticari kit kullanılarak gerçekleştirilmiştir. ACNT3 genotiplemesi için polimeraz zincir reaksiyonu- restriksiyon enzimi kesimi (PCR- RFLP) metodu, ACE içinse PCR metodu kullanılmıştır. ACTN3 genotipi için 16 oyuncu RR, 6’ sı RX ve 2 oyuncu da XX olarak bulunmuştur. Cinsiyetlerine göre ayırdığımızda 17 kız oyuncunun 11’i RR, 4’ü RX ve 2’si XX, erkeklerde disise 5 ve 2 oyuncu sırasıyla RR ve RX genotiplerinde bulunmuştur. ACE için, 11 oyuncu DD, 12 oyuncu ID ve sadece 1 oyuncu II genotipindedir. Cinsiyetlerine göre incelediğimizde kızlarda 7 oyuncu DD, 10 oyuncu ID genotipinde, erkelerde ise 4 oyuncu DD, 2 oyuncu ID ve yalnız 1 oyuncu II genotipindedir. ACTN3 R alleli kızlarda 26, erkeklerde 12, X alleli ise kızlarda 8, erkeklerde 2 olarak bulunmuştur. ACE genotipi için D alleli kızlarda 24, erkeklerde 10, I alleli ise kızlarda 10 ve erkeklerde 4 olarak saptanmıştır. Bu çalışmamızda ACTN3 DD genotipinin ve R alleinin, ACE polimorfizminde ise ID genotipinin ve D alleinin çalışma grubunda daha baskın olduğu görülmüştür. Bu oyuncu grubunda ilk kez gerçekleştirilen bu pilot çalışma ile bundan sonra daha yüksek veri kaynaklı çalışmalara ışık tutacağı inancındayız.

Keywords

• Basketbol; polimorfizm; ACTN3; ACE; Spor

References

1. Ulucan K. (2015). Need For Sports Genetics. Journal of Investigative Genomics, 2(2): 00021.
2. Montgomery HE, Marshall R, Hemingway H. (1998). Human gene for physical performance. Nature, 393(6682), 221–222.
3. Ulucan K, Göle S. (2014). ACE I/D Polymorphism Determination in Turkish Elite Wind-surfers. Sport Science Review, 23(1-2), 79-84.
4. Jones A, Montgomery HE, Woods DR. (2002). Human performance: a role for the ACE genotype?. Exercise and Sport Science Reviews, 30(4), 184–190.
5. Costa AM, Silva AJ, Garrido ND. (2009). Association between ACE D allele and elite short distance swimming. European Journal of Applied Physiology, 106(6), 785–790.
6. Cieszczyk P, Krupecki K, Maciejewska A. (2009). The angiotensin converting enzyme gene I/D polymorphism in Polish rowers. International Journal Sports Medicine, 30(8), 624–627.
7. Yang N, Macarthur DG, Gulbin JP. (2003). ACTN3 genotype is associated with human elite athletic performance. American Journal of Human Genetics, 73(7), 627–631.
8. Holdys J, Stanislawski D, Krysciak J. (2011). Polymorphism of the @-ACTN3 gene in individuals practising different sports disciplines. Biology of Sport, 28(1),, 101–106.

9. North KN, Yang N, Wattanasirichaigoon D, Mills M, Easteal S, Beggs AH. (1999). A common nonsense mutation results in alpha-actinin-3 deficiency in the general population. Nature Genetics, 21(4), 353–354.
10. Niemi AK, Majamaa K. (2005). Mitochondrial DNA and ACTN3 genotypes in Finnish elite endurance and sprint athletes. European Journal of Human Genetics, 13(8), 965–969.
11. Papadimitriou ID, Papadopoulos C, Kouvatsi A. (2008). The ACTN3 gene in elite Greek track and field athletes. International Journal of Sports Medicine, 29(4), 352-355.
12. Ulucan K, Göle S, Altindas N, Güney AI. (2013). Preliminary Findings of
13. Ulucan K, Bayyurt GM, Konuk M, Güney AI. (2014). Effect of alpha-actinin-3 gene on trained and untrained Turkish middle-school children’s sprinting performance: a pilot study. Biological Rhythm Research, 45(4), 509-514.
14. Güney AI, Ergec D, Kirac D, Ozturhan H, Caner M, Koc G, Kaspar C, Ulucan K, Agirbasli M. (2013). Effects of ACE polymorphisms and other risk factors on the severity of coronary artery disease. Genetics and Molecular Research, 12(4), 6895-6906.
15. Ulucan K, Topal ES, Aksulu BK, , Yaman B, Çiftçi IC, Bıyıklı T. (2015). Atletik Performans, Genetik ve Gen Dopingi. İstanbul Kanuni Sultan Süleyman Tıp Dergisi, 7(2):58-62.
16. Garatachea N, Verde Z, Santos-Lozano A, Yvert T, Rodriguez-Romo G, Sarasa FJ, Hernández- Sánchez S, Santiago C, Lucia A. (2014). ACTN3 R577X polymorphism and explosive leg-muscle power in elite basketball players. International Journal of Sports Physiology and Performance, 9(2), 226-232.
17. Sessa F, Chetta M, Petito A, Franzetti M, Bafunno V, Pisanelli D, Sarno M, Iuso S, Margaglione M. (2011). Gene Polymorphisms and Sport Attitude in Italian Athletes. Genetic Testing and Molecular Biomarkers, 15 (4), 285-290.
18. Günel T, Gümüşoğlu E, Hosseini MK, Yilmaz YE, Dolekcap I, Aydinli K. (2014). Effect of angiotensin I-converting enzyme and
19. Ulucan K, Sercan C, Biyikli T. (2015). Distribution of angiotensin-I converting enzyme insertion/ deletion and
20. Şanlısoy F, Altıntaş N, Büyükyazı G, Candan N. (2011). Ege bölgesi elit sporcularının ACTN3 R577X genotip dağılımının araştırılması. Cumhuriyet Medical Journal, 33(2), 153-159.
21. Yamak B, Yuce M, Bagci H, İmamoğlu O. (2015). Association between Sport Performance and Alpha- Actinin-3 Gene R577X Polymorphism. International Journal of Human Genetics, 15(1), 13-19.
22. Oh SD. (2007). The distribution of I/D polymorphism in the ACE gene among Korean male elite athletes. Journal of Sports Medicine and Physical Fitness, 47(2), 250-254.