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Do G894T Polymorphisms of Endothelial Nitric Oxide Synthase 3 (NOS3) Influence Endurance Phenotypes?

100%

Cięszczyk P., Sawczuk M., Maciejewska A., Jascaniene N., Eider J.

Journal of Human Kinetics

2010

vol. 24

73-80

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.

The Variants Within the COL5A1 Gene are Associated with Reduced Risk of Anterior Cruciate Ligament Injury in Skiers

59%

Stępień-Słodkowska M., Ficek K., Kaczmarczyk M., Maciejewska-Karłowska A., Sawczuk M., Leońska-Duniec A., Stępiński M., Ziętek P., Król P., Chudecka M., Cięszczyk P.

Journal of Human Kinetics

2015

vol. 45

issue 1

103-111

The purpose of this study was to examine the association of the BstUI RFLP C/T (rs 12722) and DpnII RFLP C/T (rs 13946) COL5A1 polymorphisms, individually and as haplotypes, with anterior cruciate ligament ruptures in recreational skiers. Subjects were 138 male recreational skiers with surgically diagnosed primary anterior cruciate ligament ruptures. The control group consisted of 183 apparently healthy male recreational skiers, who were without any self-reported history of ligament or tendon injury. DNA was extracted from buccal cells donated by the subjects and genotyping was carried out using real-time PCR. The genotype distributions for both polymorphisms met Hardy- Weinberg expectations in both groups. There were no significant differences in genotype distribution of allele frequencies of COL5A1 BstUI RFLP C/T and COL5A1 DpnII RFLP C/T polymorphisms between the ACL rupture and control groups. The T-T (BstUI RFLP T, DpnII RFLP T) haplotype was the most common (55.6%). The haplotype T-C was not present in any of the subjects. There was an underrepresentation tendency of the C-T haplotype in the study group compared to controls under recessive mode of inheritance. Higher frequency of the COL5A1 BstUI RFLP C/T and COL5A1DpnII RFLP C/T polymorphisms haplotype is associated with reduced risk of anterior cruciate ligament injury in a group of apparently healthy male recreational skiers.

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2 Journal of Human Kinetics

1 2015

1 2010

2 Cięszczyk P.

2 Sawczuk M.

1 Chudecka M.

1 Eider J.

1 Ficek K.

1 Jascaniene N.

1 Kaczmarczyk M.

1 Król P.

1 Leońska-Duniec A.

1 Maciejewska A.

1 Maciejewska-Karłowska A.

1 Stępień-Słodkowska M.

1 Stępiński M.

1 Ziętek P.

Search results

Do G894T Polymorphisms of Endothelial Nitric Oxide Synthase 3 (NOS3) Influence Endurance Phenotypes?

The Variants Within the COL5A1 Gene are Associated with Reduced Risk of Anterior Cruciate Ligament Injury in Skiers