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Association of theACTN3R577X Polymorphism in Polish Power-Orientated Athletes

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Cięszczyk P., Eider J., Ostanek M., Arczewska A., Leońska-Duniec A., Sawczyn S., Ficek K., Krupecki K.
Journal of Human Kinetics
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2011
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vol. 28
55-61
EN
Alpha-actinins are an ancient family of actin-binding proteins that play structural and regulatory roles in cytoskeletal organization. In skeletal muscle, α-actinin-3 protein is an important structural component of the Z disc, where it anchors actin thin filaments, helping to maintain the myofibrillar array. A common nonsense polymorphism in codon 577 of the ACTN3 gene (R577X) results in α-actinin-3 deficiency in XX homozygotes. Based on knowledge about the role of ACTN3 R557X polymorphism in skeletal muscle function, we postulated that the genetic polymorphism of ACTN3 could also improve sprint and power ability.We compared genotypic and allelic frequencies of the ACTN3 R557X polymorphism in two groups of men of the same Caucasian descent: 158 power-orientated athletes and 254 volunteers not involved in competitive sport.The genotype distribution in the group of power-oriented athletes showed significant differences (P=0.008) compared to controls. However, among the investigated subgroups of athletes, only the difference of ACTN3 R577X genotype between sprinters and controls reached statistical significance (P=0.041). The frequencies of the ACTN3 577X allele (30.69% vs. 40.35%; P=0.005) were significantly different in all athletes compared to controls. Our results support the hypothesis that the ACTN3 577XX allele may have some beneficial effect on sprintpower performance, because the ACTN3 XX genotype is significantly reduced in Polish power-oriented athletes compared to controls.This finding seems to be in agreement with previously reported case-control studies. However, ACTN3 polymorphism as a genetic marker for sport talent identification should be interpreted with great caution.
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Do G894T Polymorphisms of Endothelial Nitric Oxide Synthase 3 (NOS3) Influence Endurance Phenotypes?

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Cięszczyk P., Sawczuk M., Maciejewska A., Jascaniene N., Eider J.
Journal of Human Kinetics
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2010
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vol. 24
73-80
EN
Endothelial nitric oxide (NO) synthase gene (NOS3) is taken into account as one of the main regulators of blood pressure and basal vascular dilation - two main factors found to be limiting for endurance performance.We compared genotypic and allelic frequencies of the NOS3 G894T polymorphism in two groups of men of the same Caucasian descent: elite endurance athletes (rowers; n=63) and sedentary controls (n=160).We have not found any statistical difference in G894T genotype and allele frequencies in endurance orientated athletes compared to sedentary controls. The difference in G allele frequency between the rowers and controls did not reach statistical significance (73.5% vs. 67.2%, P = 0.307), similar to genotype distribution amongst the rowers (58.7% GG; 39.4% GT; 6.4% TT) compared to controls (43.7% GG; 46.9% GT; 9.4% TT) (P=0.129).In summary, our results are in contradiction to the hypothesis that NOS3 G894T polymorphism is associated with the physical performance status in rowing. Of course, our findings do not mean that other polymorphisms in NOS3 gene do not have any beneficial effect on performance parameters, but to confirm that hypothesis, we need further studies.
3
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Associations between the occurrence of the ACTN3 R577X, ACE I/D, BDKRB2 +9/-9 polymorphisms and anaerobic performance among a group of elite fencers

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Balko I., Balko S., Petr M., Heidler J., Benesova L., Kohlikova E.
Physical Activity Review
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2021
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vol. 2
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issue 9
93-100
EN
Introduction: This research aims to detect possible associations between the ACTN3 R577X, ACE I/D, BDKRB2 +9/-9 genetic polymorphisms, and selected anaerobic performance indicators among elite and sub-elite fencers. Methods: The sample of participants included a group of 20 fencers (males, age 25.5 ± 6.9 years; height 185.1 ± 5.8; weight 78.3 ± 9.8). We obtained genotype analysis for selected polymorphisms (ACTN3 R577X, ACE I/D, BDKRB2 +9/-9) through buccal swabs. 30-second Wingate test was used for the anaerobic performance where the following variables were monitored: the maximal anaerobic performance - Pmax [W], the anaerobic capacity - AnC [kJ], the total number of revolutions - TR [n], the peak blood lactate concentration - LApeak [mmol·l-1]. Results: Within ACTN3 R577X polymorphism, no differences were found in the observed variables between genotypes. However, ACE I/D heterozygotes reached higher Pmax, AnC, and LApeak values than homozygotes. Furthermore, BDKRB2 +9/-9 polymorphism homozygotes with -9 allele reached higher Pmax and AnC values than homozygotes with +9 allele. No statistical differences were found in all monitored variables between genotypes of monitored polymorphisms. Conclusions: The research findings might serve as another useful piece of knowledge related to the existing statements in the field of genetics, focusing on speed-strength performance problems. It should be highlighted that current studies are only the first steps in helping us better understand the associations between genetic factors and performance in sports.
4
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Proposed genotype definition of Porcine sapelovirus

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Yang T., Lu Y., Zhang L., Yang T., Lu Y., Zhang L.
Polish Journal of Veterinary Sciences
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2021
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vol. 24
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issue 2
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