Öz
Özet
Amaç. Ege bölgesi elit sporcularının genetik alt yapılarının spordaki performansına olumlu katkısını moleküler yöntemlerle araştırmayı hedefledik. Yöntem. Moleküler genetik çalışma 105 gönüllü elit sporcu ve 105 gönüllü kontrol (sedanter bireyler) grubuna uygulandı. Her bir gönüllüden EDTA içeren tüplere 5’er mL kan alındı. DNA izolasyonu, standart protokollere göre yapıldı. Polimorfizm, Polimeraz Zincir Reaksiyonu (PZR) ve Restriksiyon Uzunluk Polimorfizmi (Restriction Fragment Leight Polymorphism=RFLP) yöntemleri uygulanarak saptandı. Çalışmamızın istatistiksel analizleri SPSS 15,0 programı kullanılarak değerlendirildi. Bulgular. Elit sporcuların RR ve RX genotiplerinin dağılımları, sedanter bireylerden önemli ölçüde farklı (χ2= 17,9; p=0,000) bulundu. Sonuç. Ege Bölgesinde ACTN3 R577X genotip dağılımının, elit sporcu ve kontrol grubundaki prevalansının araştırılması Ege bölgesinde ilk defa yapılan bir çalışmadır. Araştırmamızın ileride bu alanda yapılacak çalışmalara öncülük yapacağını düşünmekteyiz.
Anahtar sözcükler: ACTN3, R577X, RFLP
Abstract
Aim. The aim of our study is to investigate whether the genetic base of elite athletes in Aegean region have positive effects on their performance in sports by molecular techniques. Methods. Molecular genetic study was applied to the 105 volunteer elite athletes and 105 volunteer control group (sedantery individuals) individuals. Five milliliter blood samples were taken from each volunteer individuals into the tubes containing EDTA. DNA isolation was performed according to the standard protocols. Polymorphism was determined by Polymerase Chain Reaction (PCR) and Restriction Length Polymorphism (RFLP) techniques. The statistical analysis of our study was performed by using SPSS 15.0 program. Results. Significant difference (x2 =17.9; p=0.000) was found in the distribution of RR and RX genotypes between the elite athletes and sedentary individuals (χ2= 17,9; p=0,000). Conclusion. This is the first study in the Aegean region investigating the prevalence of ACTN3 R577X genotype in elite athletes and sedentary individuals. We think that our study will initiate further researches on this subject.
Keywords: ACTN3, R577X, RFLP
Kaynakça
- Dias RG, Pareira AC, Negrao CE, Krieger JE. Genetic polymorphisms determining of the physical performance in elite athletes. Rev Bras Med Esporte 2007; 13: 3.
- Wolfarth B, Rivera MA, Oppert JM, Boulay MR, Dionne FT, Chagnon M, Gagnon J, Chagnon Y, Perusse L, Keul J, Bouchard C. A polymorphism in the alpha2a-adrenoceptor gene and endurance athlete status. Med Sci Sports Exerc 2000; 32: 1709-12.
- Rankinen T, Pérusse L, Gagnon J, Chagnon YC, Leon AS, Skinner JS, Wilmore JH, Rao DC, Bouchard C. Angiotensin-converting enzyme ID polymorphism and fitness phenotype in the HERITAGE Family Study. J Appl Physiol 2000; 88: 1029-35.
- MacArthur DG, North KN, A gene for speed? The evolution and function of alpha-actinin-3. Bioessays 2004; 26: 786-95.
- MacArthur DG, North KN. Genes and human elite athletic performance. Hum Genet 2005; 116: 331-9.
- Döring FE, Onur S, Geisen U, Boulay MR, Pérusse L, Rankinen T, Rauramaa R, Wolfahrt B, Bouchard C. ACTN3 R577X and other polymorphisms are not associated with elite endurance athlete status in the Genathlete study. J Sports Sci 2010; 14: 1-5.
- Feitosa MF, Gaskill SE, Rice T, Rankinen T, Bouchard C, Rao DC, Wilmore JH, Skinner JS, Leon AS. Major gene effects on exercise ventilatory threshold: the HERITAGE Family Study. J App Physiol 2002; 93: 1000-6.
- Scott RA, Irving R, Irwin L, Morrison E, Charlton V, Austin K, Tladi D, Deason M, Headley SA, Kolkhorst FW, Yang N, North K, Pitsiladis YP. ACTN3 and ACE genotypes in elite Jamaican and US sprinters. Med Sci Sports Exerc 2010; 42: 107-12.
- Yang N, MacArthur DG, Gulbin JP, Hahn AG, Beggs AH, Easteal S, North K. ACTN3 genotype is associated with human elite athletic performance, Am J Hum Genet 2003; 73: 627-31.
- Fyrberg E, Kelly M, Ball E, Fyrberg C, Reedy MC. Molecular genetics of Drosophila alpha-actinin: mutant alleles disrupt Z disc integrity and muscle insertions. J Cell Biol 1990; 110: 1999-2011.
- Barstead RJ, Kleiman L, Waterston RH. Cloning, sequencing, and mapping of an alpha-actinin gene from the nematode Caenorhabditis elegans. Cell Motil Cytoskeleton 1991; 20: 69-78.
- Honda K, Yamada T, Endo R, Ino Y, Gotoh M, Tsuda H, YamadaY, Chiba H, Hirohashi S. Actinin-4, a novel actin-bundling protein associated with cell motility and cancer invasion. J Cell Biol 1998; 140: 1383-93.
- Beggs AH, Byers TJ, Knoll JH, Boyce FM, Bruns GA, Kunkel LM. Cloning and characterization of two human skeletal muscle alpha-actinin genes located on chromosomes 1 and 11. J Biol Chem 1992; 267: 9281-8
- Chiu, Li-Ling; Hsieh, Ling-Ling; Yen, Ke-Tien2; Hsieh, Sandy S. FACSM, ACE I/D and ACTN3 R577X Polymorphism in Elite Athletes. National Science Council, Taiwan, 2003.
- Goel H, Mittal B. ACTN3: Athlete gene prevalence in North India .Current Science 2007; 92: 84-6.
- 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?, Br J Sports Med 2007; 41: 616-7.
- Moran CN, Yang N, Bailey ME, Tsiokanos A, Jamurtas A, MacArthur DG, North K, Pitsiladis YP, Wilson RH. Association analysis of the ACTN3 R577X polymorphism and complex quantitative body composition and performance phenotypes in adolescent Greeks. Eur J Hum Genet 2007; 15: 88-93.
- 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. Physiol Genomics 2007 Dec 19; 32: 58-63.
- Roth SM, Walsh S, Liu D, Metter EJ, Ferrucci L, Hurley BF. The ACTN3 R577X nonsense allele is under-represented in elite-level strength athletes. Eur J Hum Genet 2008; 16: 391-4.
- Saunders CJ, September AV, Xenophontos SL, Cariolou MA, Anastassiades LC, Noakes TD Collins M. No association of the ACTN3 gene R577X Polymorphism with endurance performance in ironman triathlons. Ann of Hum Genet 2007; 71: 777-81.
- MacArthur DG, North KN. ACTN3: a genetic influence on muscle function and athletic performance. Exerc Sport Sci Rev 2007; 35: 30-4.
- Lippi G, Longo UG, Maffulli N. Genetics and sports. Br Med Bull 2010; 93: 27- 47.
- 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: 71-3.
- Shang X, Huang C, Chang Q, Zhang L, Huang T. Association betweeen the ACTN3 R577X polymorphism and female endurance atheletes in China. Int J Sports Med 2010; 31: 913-6.
Orijinal araştırma-Original research Ege bölgesi elit sporcularının ACTN3 R577X genotip dağılımının araştırılması
Öz
Amaç. Ege bölgesi elit sporcularının genetik alt yapılarının spordaki performansına olumlu katkısını moleküler yöntemlerle araştırmayı hedefledik. Yöntem. Moleküler genetik çalışma 105 gönüllü elit sporcu ve 105 gönüllü kontrol (sedanter bireyler) grubuna uygulandı. Her bir gönüllüden EDTA içeren tüplere 5‟er mL kan alındı. DNA izolasyonu, standart protokollere göre yapıldı. Polimorfizm, Polimeraz Zincir Reaksiyonu (PZR) ve Restriksiyon Uzunluk Polimorfizmi (Restriction Fragment Leight Polymorphism=RFLP) yöntemleri uygulanarak saptandı. Çalışmamızın istatistiksel analizleri SPSS 15,0 programı kullanılarak değerlendirildi. Bulgular. Elit sporcuların RR ve RX genotiplerinin dağılımları, sedanter bireylerden önemli ölçüde farklı (χ2= 17,9; p=0,000) bulundu. Sonuç. Ege Bölgesinde ACTN3 R577X genotip dağılımının, elit sporcu ve kontrol grubundaki prevalansının araştırılması Ege bölgesinde ilk defa yapılan bir çalışmadır. Araştırmamızın ileride bu alanda yapılacak çalışmalara öncülük yapacağını düşünmekteyiz
Kaynakça
- Dias RG, Pareira AC, Negrao CE, Krieger JE. Genetic polymorphisms determining of the physical performance in elite athletes. Rev Bras Med Esporte 2007; 13: 3.
- Wolfarth B, Rivera MA, Oppert JM, Boulay MR, Dionne FT, Chagnon M, Gagnon J, Chagnon Y, Perusse L, Keul J, Bouchard C. A polymorphism in the alpha2a-adrenoceptor gene and endurance athlete status. Med Sci Sports Exerc 2000; 32: 1709-12.
- Rankinen T, Pérusse L, Gagnon J, Chagnon YC, Leon AS, Skinner JS, Wilmore JH, Rao DC, Bouchard C. Angiotensin-converting enzyme ID polymorphism and fitness phenotype in the HERITAGE Family Study. J Appl Physiol 2000; 88: 1029-35.
- MacArthur DG, North KN, A gene for speed? The evolution and function of alpha-actinin-3. Bioessays 2004; 26: 786-95.
- MacArthur DG, North KN. Genes and human elite athletic performance. Hum Genet 2005; 116: 331-9.
- Döring FE, Onur S, Geisen U, Boulay MR, Pérusse L, Rankinen T, Rauramaa R, Wolfahrt B, Bouchard C. ACTN3 R577X and other polymorphisms are not associated with elite endurance athlete status in the Genathlete study. J Sports Sci 2010; 14: 1-5.
- Feitosa MF, Gaskill SE, Rice T, Rankinen T, Bouchard C, Rao DC, Wilmore JH, Skinner JS, Leon AS. Major gene effects on exercise ventilatory threshold: the HERITAGE Family Study. J App Physiol 2002; 93: 1000-6.
- Scott RA, Irving R, Irwin L, Morrison E, Charlton V, Austin K, Tladi D, Deason M, Headley SA, Kolkhorst FW, Yang N, North K, Pitsiladis YP. ACTN3 and ACE genotypes in elite Jamaican and US sprinters. Med Sci Sports Exerc 2010; 42: 107-12.
- Yang N, MacArthur DG, Gulbin JP, Hahn AG, Beggs AH, Easteal S, North K. ACTN3 genotype is associated with human elite athletic performance, Am J Hum Genet 2003; 73: 627-31.
- Fyrberg E, Kelly M, Ball E, Fyrberg C, Reedy MC. Molecular genetics of Drosophila alpha-actinin: mutant alleles disrupt Z disc integrity and muscle insertions. J Cell Biol 1990; 110: 1999-2011.
- Barstead RJ, Kleiman L, Waterston RH. Cloning, sequencing, and mapping of an alpha-actinin gene from the nematode Caenorhabditis elegans. Cell Motil Cytoskeleton 1991; 20: 69-78.
- Honda K, Yamada T, Endo R, Ino Y, Gotoh M, Tsuda H, YamadaY, Chiba H, Hirohashi S. Actinin-4, a novel actin-bundling protein associated with cell motility and cancer invasion. J Cell Biol 1998; 140: 1383-93.
- Beggs AH, Byers TJ, Knoll JH, Boyce FM, Bruns GA, Kunkel LM. Cloning and characterization of two human skeletal muscle alpha-actinin genes located on chromosomes 1 and 11. J Biol Chem 1992; 267: 9281-8
- Chiu, Li-Ling; Hsieh, Ling-Ling; Yen, Ke-Tien2; Hsieh, Sandy S. FACSM, ACE I/D and ACTN3 R577X Polymorphism in Elite Athletes. National Science Council, Taiwan, 2003.
- Goel H, Mittal B. ACTN3: Athlete gene prevalence in North India .Current Science 2007; 92: 84-6.
- 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?, Br J Sports Med 2007; 41: 616-7.
- Moran CN, Yang N, Bailey ME, Tsiokanos A, Jamurtas A, MacArthur DG, North K, Pitsiladis YP, Wilson RH. Association analysis of the ACTN3 R577X polymorphism and complex quantitative body composition and performance phenotypes in adolescent Greeks. Eur J Hum Genet 2007; 15: 88-93.
- 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. Physiol Genomics 2007 Dec 19; 32: 58-63.
- Roth SM, Walsh S, Liu D, Metter EJ, Ferrucci L, Hurley BF. The ACTN3 R577X nonsense allele is under-represented in elite-level strength athletes. Eur J Hum Genet 2008; 16: 391-4.
- Saunders CJ, September AV, Xenophontos SL, Cariolou MA, Anastassiades LC, Noakes TD Collins M. No association of the ACTN3 gene R577X Polymorphism with endurance performance in ironman triathlons. Ann of Hum Genet 2007; 71: 777-81.
- MacArthur DG, North KN. ACTN3: a genetic influence on muscle function and athletic performance. Exerc Sport Sci Rev 2007; 35: 30-4.
- Lippi G, Longo UG, Maffulli N. Genetics and sports. Br Med Bull 2010; 93: 27- 47.
- 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: 71-3.
- Shang X, Huang C, Chang Q, Zhang L, Huang T. Association betweeen the ACTN3 R577X polymorphism and female endurance atheletes in China. Int J Sports Med 2010; 31: 913-6.
Ayrıntılar
| Birincil Dil | İngilizce |
|---|---|
| Bölüm | Temel Tıp Bilimleri Araştırma Yazıları |
| Yazarlar | |
| Yayımlanma Tarihi | 14 Mart 2011 |
| Yayımlandığı Sayı | Yıl 2011Cilt: 33 Sayı: 2 |