ACTN3 Genotype Association with Motoric Performance of Roma Children
The paper presents the results of the molecular
genetics analysis in sports research, with special emphasis to use
genetic information in diagnosing of motoric predispositions in Roma
boys from East Slovakia. The ability and move are the basic
characteristics of all living organisms. The phenotypes are influenced
by a combination of genetic and environmental factors. Genetic tests
differ in principle from the traditional motoric tests, because
the DNA of an individual does not change during life. The aim of
the presented study was to examine motion abilities and to determine
the frequency of ACTN3 (R577X) gene in Roma children. Genotype
data were obtained from 138 Roma and 155 Slovak boys from 7 to 15
years old. Children were investigated on physical performance level
in association with their genotype. Biological material for genetic
analyses comprised samples of buccal swabs. Genotypes were
determined using Real Time High resolution melting PCR method
(Rotor-Gene 6000 Corbett and Light Cycler 480 Roche). The
software allows creating reports of any analysis, where information
of the specific analysis, normalized and differential graphs and many
information of the samples are shown. Roma children of analyzed
group legged to non-Romany children at the same age in all the
compared tests. The % distribution of R and X alleles in Roma
children was different from controls. The frequency of XX genotype
was 9.26%, RX 46.33% and RR was 44.41%. The frequency of XX
genotype was 9.26% which is comparable to a frequency of an Indian
population. Data were analyzed with the ANOVA test.
[1] N. Yang, D. G. MacArthur, J. P. Gulbin, A. G. Hahn, A. H. Beggs, S.
Easteal and K. North, “ACTN3 genotype is associated with human elite
athletic performance,” AJHG, vol. 73, no. 3, pp. 627-631, 2003.
[2] M. Mills, N. Zang, R. Weinberger, D. L. Vander Woude, A. H. Beggs,
S. Easteal and K. North, “Differential expression of the actin-binding
proteins, -actinin-2 and 3-, in different species: implications for the
evolution of functional redundancy,” Hum. Mol. Genet., vol. 10, no. 13,
pp. 1335-1346, 2001.
[3] K. N. North, N. Zang and A. H. Beggs, “Deficiency of a skeletal muscle
isoform of actinin (a-actinin-3) in merosin positive congenital
muscular dystrophy„ Neuromuscular Disord., vol. 6, no. 4, pp. 229-235,
1996.
[4] K. North, N. Yang, D. Wattanasirichaigoon, M. Mills, S. Easteal and A.
H. Beggs, “A common nonsense mutation results in alpha-actinin-3
deficiency in the general population,” Nature Genet., vol. 21, pp. 353-
354, 1999.
[5] K. H. Myburgh, “What makes an endurance athlete world-class? Not
simply a physiological conundrum,” Comparative Biochemistry and
Physiology, vol. 136, pp. 171-190, 2003.
[6] D. G. MacArthur and K. N. North, “ACTN3: A genetic influence on
muscle function and athletic performance,” Exercise and Sport Sciences
reviews, vol. 35, no.1, pp. 30-34, 2007.
[7] Ch. Livingstone, “Genetics and molecular biology of muscle
adaptation,” Elsevier limited, pp. 273, 2006.
[8] J.T. Seto, M. Lek, K.G. Quinlan, P.J. Houweling, X.F. Zheng, F. Garton,
D.G. MacArthur, J.M. Raftery, S.M. Garvey, N. Hauser, M.A. Yang,
S.I. Head, K.N. North, “Deficiency of alpha-actinin-3 is associated with
increased susceptibility to contraction-induced damage and skeletal
muscle remodeling,” Hum Mol Genet, vol. 20, no. 15, pp. 2914–2927,
2011.
[9] P.M. Clarkson, J.M. Devaney, H. Gordish-Dressman, P.D. Thompson,
M.J. Hubal, M. Urso, T.B. Price, T.J. Angelopoulos, P.M. Gordon, N.M.
Moyna, L.S. Pescatello, P.S. Visich, R.F. Zoeller, R.L. Seip, E.P.
Hoffman, “ACTN3 genotype is associated with increases in muscle
strength in response to resistance training in women,” J Appl Physiol,
vol. 99, no. 1, pp. 154–163, 2005.
[10] I.I. Ahmetov, A.M. Druzhevskaya, E.V. Lyubaeva, D.V. Popov, O.L.
Vinogradova, A.G. Williams, “The dependence of preferred competitive
racing distance on muscle fibre type composition and ACTN3 genotype
in speed skaters,” Exp Physiol, vol. 96, pp. 1302–1310, 2011.
[11] D.G. MacArthur, J.T. Seto, S. Chan, K.G. Quinlan, J.M. Raftery, N.
Turner, M.D. Nicholson, A.J. Kee, E.C. Hardeman, P.W. Gunning, G.J.
Cooney, S.I. Head, N. Yang, K.N. North, “An Actn3 knockout mouse
provides mechanistic insights into the association between alpha-actinin-
3 deficiency and human athletic performance, » Hum Mol Genet, vol.
17, pp. 1076–1086, 2008.
[12] A. J. Cuticchia, “Genetics”, A Handbook for Lawyers. ABA Publishing
Chicago, pp. 221, 2009.
[13] A. K. Niemi and K. Majamaa, “Mitochondrial DNA and ACTN3
genotypes in Finnish elite endurance and sprint athletes,“ Europ. J.
Hum. Genet., vol. 13, pp. 965-969, 2005.
[14] H. Goel, B. Mittal, “ACTN3 gene: Athlete gene prevalence in North
India,” Current Science, vol. 84, no. 92, January 2007.
[15] N. Eyon, J. A. Duarte,” ACTN3 R577X polymorphism and Israeli Toplevel
athletes,” Inter J Sports Med, vol. 30, no. 8, pp. 695-698,
September 2009.
[16] A. Lucia, J. Esteve-Lanao, J. Oliván, F. Goméz-Gallego, A. F. San Juan,
C. Santiago, M. Pérez, C. Chamorro-Viňa and C. Foster, “Physiological
characteristics of the best Eritrean runners-exceptional running
economy„ Appl. Phys. Nutr. and Metab., vol. 31,no. 5,pp. 530-540,
2006.
[17] C. J. Saunders, A. V. September, S. L. Xenophontos, M. A. Cariolou, L.
C. Anastassiades, T. D. Noakes and M. Collins, “No association of the
ACTN3 gene R577X polymorphism with endurance performance in
Ironman Triathlons,” Ann. Hum. Gen., vol. 71, no. 6, pp. 777-781, 2007.
[18] C. N. Moran, N. Yang, M. E. S. Bailey, A. Tsiokanos, A. Jamurtas, D.
G. MacArthur, K. North, Y. P. Pitsiladis, R. H. Wilson, “Association
analysis of the ACTN3 R577X polymorphism and complex quantitative
body composition and performance phenotypes in adolescent Greeks,”
Eur J Hum Genet, vol. 15, pp. 88-93, October 2006.
[19] B. Norman, M. Esbjörnsson, H. Rundqvist, T. Österlund, B. Glenmark,
E. Jansson, “ACTN3 genotype and modulation of skeletal muscle
response to exercise in human subjects,” Journal of Applied Physiology,
vol. 116, no. 9, pp. 1197-1203, 2014.
[20] E.M. Pimenta, D.B. Coelho, I.R. Cruz, R.F. Morandi, C.E. Veneroso, G.
de Azambuja Pussieldi, M.R. Carvalho, E. Silami-Garcia, J.A. De Paz
Fernández, “The ACTN3 genotype in soccer players in response to acute
eccentric training,” Eur J Appl Physiol, vol. 112, pp. 1495–1503, 2012.
[21] R.J. Urban, “Growth hormone and testosterone: anabolic effects on
muscle,” Horm Res Paediatr, vol. 76(Suppl 1), pp. 81–83, 2011.
[22] S. Walsh, D. Liu, E.J. Metter, L. Ferrucci, S.M. Roth, “ACTN3
genotype is associated with muscle phenotypes in women across the
adult age span” J Appl Physiol, vol. 105, pp. 1486–1491, 2008.
[23] H. Zempo, K. Tanabe, H. Murakami, M. Iemitsu, S. Maeda, S. Kuno,
“ACTN3 polymorphism affects thigh muscle area,” Int J Sports
Med, vol. 31, pp. 138–142, 2010.
[24] T. Rankinen, M. S. Bray, J. M. Hagberg, L. Pérusse, S. M. Roth, B.
Wolfarth, C. Bouchard, “The human gene map for performance and
health-related fitness phenotypes:the 2005 update,” Official Journal of
the American College of Sports Medicine, pp.1863-1888, 2005.
[1] N. Yang, D. G. MacArthur, J. P. Gulbin, A. G. Hahn, A. H. Beggs, S.
Easteal and K. North, “ACTN3 genotype is associated with human elite
athletic performance,” AJHG, vol. 73, no. 3, pp. 627-631, 2003.
[2] M. Mills, N. Zang, R. Weinberger, D. L. Vander Woude, A. H. Beggs,
S. Easteal and K. North, “Differential expression of the actin-binding
proteins, -actinin-2 and 3-, in different species: implications for the
evolution of functional redundancy,” Hum. Mol. Genet., vol. 10, no. 13,
pp. 1335-1346, 2001.
[3] K. N. North, N. Zang and A. H. Beggs, “Deficiency of a skeletal muscle
isoform of actinin (a-actinin-3) in merosin positive congenital
muscular dystrophy„ Neuromuscular Disord., vol. 6, no. 4, pp. 229-235,
1996.
[4] K. North, N. Yang, D. Wattanasirichaigoon, M. Mills, S. Easteal and A.
H. Beggs, “A common nonsense mutation results in alpha-actinin-3
deficiency in the general population,” Nature Genet., vol. 21, pp. 353-
354, 1999.
[5] K. H. Myburgh, “What makes an endurance athlete world-class? Not
simply a physiological conundrum,” Comparative Biochemistry and
Physiology, vol. 136, pp. 171-190, 2003.
[6] D. G. MacArthur and K. N. North, “ACTN3: A genetic influence on
muscle function and athletic performance,” Exercise and Sport Sciences
reviews, vol. 35, no.1, pp. 30-34, 2007.
[7] Ch. Livingstone, “Genetics and molecular biology of muscle
adaptation,” Elsevier limited, pp. 273, 2006.
[8] J.T. Seto, M. Lek, K.G. Quinlan, P.J. Houweling, X.F. Zheng, F. Garton,
D.G. MacArthur, J.M. Raftery, S.M. Garvey, N. Hauser, M.A. Yang,
S.I. Head, K.N. North, “Deficiency of alpha-actinin-3 is associated with
increased susceptibility to contraction-induced damage and skeletal
muscle remodeling,” Hum Mol Genet, vol. 20, no. 15, pp. 2914–2927,
2011.
[9] P.M. Clarkson, J.M. Devaney, H. Gordish-Dressman, P.D. Thompson,
M.J. Hubal, M. Urso, T.B. Price, T.J. Angelopoulos, P.M. Gordon, N.M.
Moyna, L.S. Pescatello, P.S. Visich, R.F. Zoeller, R.L. Seip, E.P.
Hoffman, “ACTN3 genotype is associated with increases in muscle
strength in response to resistance training in women,” J Appl Physiol,
vol. 99, no. 1, pp. 154–163, 2005.
[10] I.I. Ahmetov, A.M. Druzhevskaya, E.V. Lyubaeva, D.V. Popov, O.L.
Vinogradova, A.G. Williams, “The dependence of preferred competitive
racing distance on muscle fibre type composition and ACTN3 genotype
in speed skaters,” Exp Physiol, vol. 96, pp. 1302–1310, 2011.
[11] D.G. MacArthur, J.T. Seto, S. Chan, K.G. Quinlan, J.M. Raftery, N.
Turner, M.D. Nicholson, A.J. Kee, E.C. Hardeman, P.W. Gunning, G.J.
Cooney, S.I. Head, N. Yang, K.N. North, “An Actn3 knockout mouse
provides mechanistic insights into the association between alpha-actinin-
3 deficiency and human athletic performance, » Hum Mol Genet, vol.
17, pp. 1076–1086, 2008.
[12] A. J. Cuticchia, “Genetics”, A Handbook for Lawyers. ABA Publishing
Chicago, pp. 221, 2009.
[13] A. K. Niemi and K. Majamaa, “Mitochondrial DNA and ACTN3
genotypes in Finnish elite endurance and sprint athletes,“ Europ. J.
Hum. Genet., vol. 13, pp. 965-969, 2005.
[14] H. Goel, B. Mittal, “ACTN3 gene: Athlete gene prevalence in North
India,” Current Science, vol. 84, no. 92, January 2007.
[15] N. Eyon, J. A. Duarte,” ACTN3 R577X polymorphism and Israeli Toplevel
athletes,” Inter J Sports Med, vol. 30, no. 8, pp. 695-698,
September 2009.
[16] A. Lucia, J. Esteve-Lanao, J. Oliván, F. Goméz-Gallego, A. F. San Juan,
C. Santiago, M. Pérez, C. Chamorro-Viňa and C. Foster, “Physiological
characteristics of the best Eritrean runners-exceptional running
economy„ Appl. Phys. Nutr. and Metab., vol. 31,no. 5,pp. 530-540,
2006.
[17] C. J. Saunders, A. V. September, S. L. Xenophontos, M. A. Cariolou, L.
C. Anastassiades, T. D. Noakes and M. Collins, “No association of the
ACTN3 gene R577X polymorphism with endurance performance in
Ironman Triathlons,” Ann. Hum. Gen., vol. 71, no. 6, pp. 777-781, 2007.
[18] C. N. Moran, N. Yang, M. E. S. Bailey, A. Tsiokanos, A. Jamurtas, D.
G. MacArthur, K. North, Y. P. Pitsiladis, R. H. Wilson, “Association
analysis of the ACTN3 R577X polymorphism and complex quantitative
body composition and performance phenotypes in adolescent Greeks,”
Eur J Hum Genet, vol. 15, pp. 88-93, October 2006.
[19] B. Norman, M. Esbjörnsson, H. Rundqvist, T. Österlund, B. Glenmark,
E. Jansson, “ACTN3 genotype and modulation of skeletal muscle
response to exercise in human subjects,” Journal of Applied Physiology,
vol. 116, no. 9, pp. 1197-1203, 2014.
[20] E.M. Pimenta, D.B. Coelho, I.R. Cruz, R.F. Morandi, C.E. Veneroso, G.
de Azambuja Pussieldi, M.R. Carvalho, E. Silami-Garcia, J.A. De Paz
Fernández, “The ACTN3 genotype in soccer players in response to acute
eccentric training,” Eur J Appl Physiol, vol. 112, pp. 1495–1503, 2012.
[21] R.J. Urban, “Growth hormone and testosterone: anabolic effects on
muscle,” Horm Res Paediatr, vol. 76(Suppl 1), pp. 81–83, 2011.
[22] S. Walsh, D. Liu, E.J. Metter, L. Ferrucci, S.M. Roth, “ACTN3
genotype is associated with muscle phenotypes in women across the
adult age span” J Appl Physiol, vol. 105, pp. 1486–1491, 2008.
[23] H. Zempo, K. Tanabe, H. Murakami, M. Iemitsu, S. Maeda, S. Kuno,
“ACTN3 polymorphism affects thigh muscle area,” Int J Sports
Med, vol. 31, pp. 138–142, 2010.
[24] T. Rankinen, M. S. Bray, J. M. Hagberg, L. Pérusse, S. M. Roth, B.
Wolfarth, C. Bouchard, “The human gene map for performance and
health-related fitness phenotypes:the 2005 update,” Official Journal of
the American College of Sports Medicine, pp.1863-1888, 2005.
@article{"International Journal of Business, Human and Social Sciences:72279", author = "J. Bernasovska and I. Boronova and J. Poracova and M. Mydlarova Blascakova and V. Szabadosova and P. Ruzbarsky and E. Petrejcikova and I. Bernasovsky", title = "ACTN3 Genotype Association with Motoric Performance of Roma Children", abstract = "The paper presents the results of the molecular
genetics analysis in sports research, with special emphasis to use
genetic information in diagnosing of motoric predispositions in Roma
boys from East Slovakia. The ability and move are the basic
characteristics of all living organisms. The phenotypes are influenced
by a combination of genetic and environmental factors. Genetic tests
differ in principle from the traditional motoric tests, because
the DNA of an individual does not change during life. The aim of
the presented study was to examine motion abilities and to determine
the frequency of ACTN3 (R577X) gene in Roma children. Genotype
data were obtained from 138 Roma and 155 Slovak boys from 7 to 15
years old. Children were investigated on physical performance level
in association with their genotype. Biological material for genetic
analyses comprised samples of buccal swabs. Genotypes were
determined using Real Time High resolution melting PCR method
(Rotor-Gene 6000 Corbett and Light Cycler 480 Roche). The
software allows creating reports of any analysis, where information
of the specific analysis, normalized and differential graphs and many
information of the samples are shown. Roma children of analyzed
group legged to non-Romany children at the same age in all the
compared tests. The % distribution of R and X alleles in Roma
children was different from controls. The frequency of XX genotype
was 9.26%, RX 46.33% and RR was 44.41%. The frequency of XX
genotype was 9.26% which is comparable to a frequency of an Indian
population. Data were analyzed with the ANOVA test.", keywords = "ACTN3 gene, R577X polymorphism, Roma
children, Slovakia, sports performance.", volume = "8", number = "11", pages = "3741-4", }
