Jerzy Eider

Association of the ACTN3 R577X Polymorphism in Polish Power-Orientated Athletes

Association of the ACTN3 R577X Polymorphism in Polish Power-Orientated Athletes 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.

The +1245g/t polymorphisms in the collagen type I alpha 1 (col1a1) gene in polish skiers with anterior cruciate ligament injury.

Objectives The aim of this study was to examine the association of +1245G/T polymorphisms in the COL1A1 gene with ACL ruptures in Polish male recreational skiers in a case-control study. Methods A total of 138 male recreational skiers with surgically diagnosed primary ACL ruptures, all of whom qualified for ligament reconstruction, were recruited for this study. The control group comprised 183 apparently healthy male skiers with a comparable level of exposure to ACL injury, none of whom had any self-reported history of ligament or tendon injury. DNA samples extracted from the oral epithelial cells were genotyped for the +1245G/T polymorphisms using real-time PCR method. Results Genotype distributions among cases and controls conformed to Hardy-Weinberg equilibrium (p = 0.2469 and p = 0.33, respectively). There was a significant difference in the genotype distribution between skiers and controls (p = 0.045, Fishers exact test). There was no statistical difference in allele distribution: OR 1.43 (0.91-2.25), p = 0.101 (two-sided Fishers exact test). Conclusions The risk of ACL ruptures was around 1.43 times lower in carriers of a minor allele G as compared to carriers of the allele T.

The angiotensin converting enzyme gene i/d polymorphism in ellite polish and lithuanian judo players

A common polymorphism in the angiotensin converting enzyme I gene (the ACE I/D variant) represents one of the first characterized and the most widely studied genetic variants in the context of elite athletes status and performance related traits. The aim of this study is to perform preliminary studies to analyze the possible importance of the ACE gene polymorphisms in elite Polish and Lithuanian judo players and sedentary individuals representing the possible relationships with genotype and physical performance. 28 male of elite Polish and Lithuania judo players were recruited for this study. For controls samples were prepared from 115 unrelated volunteers. DNA was extracted from the buccal cells donated by the subjects, and the PCR amplification of the polymorphic region of ACE gene contained either the insertion (I) or deletion (D) fragment was performed. Compared with sedentary controls, the frequency of I allele differ significantly from that found in judo player’s group: 60.7% vs. 44.3%, (p=0.02) and ACE genotype frequency amongst the whole athletes group (28.6% II, 64.3% ID, 7.1% DD) was also different from expected values (control group 19.1% II, 50.4% ID, 30.4% DD; p=0.019). Our investigation have proved the ACE I/D allele could be one of the factors influencing the elite endurance exercise performance. The research suggests that those most predisposed to judo are individuals with the allele distribution in the ACE gene that is most significant with regard to the duration of a fight, and not with regard to the character of the performed moves, as could be supposed.

Distribution of the AMPD1 C34T polymorphism in Polish power-oriented athletes

Abstract The aims of this study were to determine the distribution of the AMPD1 genotype among groups of high-level Polish power-oriented athletes, and to investigate potential associations between genetic polymorphism in exon 2 of the AMPD1 gene and power-oriented athlete status. Altogether, 158 male Polish power-oriented athletes were genotyped by PCR-RFLP. The genetic control group comprised 160 unrelated male volunteers. We observed significant differences in genotype distribution when all 158 athletes (89.25% CC, 10.75% CT, 0.00% TT; P = 0.0025) were compared with controls (75.00% CC, 23.75% CT, 1.25% TT). A significant deficiency of the T allele was noted in all subgroups (short-distance runners: 5.21%, P = 0.032; short-distance swimmers: 5.56%, P = 0.031; weightlifters: 5.36%, P = 0.024) compared with controls (13.13%), while this trend was even stronger when the frequency of the T allele was compared between controls and all 158 athletes (5.38%, P = 0.0007). Our results indicate a lower frequency of the AMPD1 exon 2 T34 allele in elite Polish power-oriented athletes. Our data suggest that the C allele may help athletes to attain elite status in power-oriented sports.

Variation in peroxisome proliferator activated receptor α gene in elite combat athletes

Abstract Peroxisome proliferator activated receptor (PPARα) is a main regulator of energy metabolism, as it regulates the expression of genes encoding several key muscle enzymes involved in fatty acid oxidation. Importantly for power sports, it may affect pathways of glucose metabolism, which can be critical in power-based sports. The aim of this study was to analyse the distribution of the PPARα gene polymorphisms in mixed power/endurance athletes. The study was carried out on elite combat athletes and sedentary individuals, in an attempt to determine possible relationships between genotype and physical performance. We tested 60 male elite Polish combat athletes. Control samples came from 181 unrelated sedentary volunteers. The G/C polymorphic site in PPARα intron 7 was scanned using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) protocol with TaqI enzyme. Differences in the distribution frequency of this polymorphism were assessed by chi-square analysis. The results revealed that frequencies of the PPARα GG genotype (73.33% vs. 54.70%; P=0.04) and G allele (82.50% vs. 70.17%; P=0.01) were significantly higher in the elite combat athletes compared with sedentary controls. The results confirm the significance of the PPARα gene as a useful genetic marker in combat athletes. However, these results should be supported with more experimental data on PPARα polymorphisms with larger groups of elite athletes.

Post-Effort Changes in Activity of Traditional Diagnostic Enzymatic Markers in Football Players’ Blood / Promene U Aktivnostima Tradicionalnih Dijagnostičkih Enzimskih Markera U Krvi Fudbalera Posle Fizičkog Naprezanja

Summary Background: Long-term and intensive physical effort causes metabolic and biochemical adaptations for both athletic and non-athletic objectives. Knowing the importance of aerobic training in football players, the aim of this study was to evaluate changes in the activity of: creatinine kinase (CK), creatine kinase MB (CKMB), lactate dehydrogenase (LDH), ahydroxybutyrate dehydrogenase (HBDH), cholinesterase (ChE) and alkaline phosphatase (ALP) in response to a semi-long distance outdoor run under aerobic conditions among both female and male football players. Methods: Sixteen participants aged 21.9±2 years (women) and 18.4±0.5 years (men), all of them voluntarily recruited football players, took part in an outdoor run, the women covering a distance of 7.4±0.3 km while men covered a distance of 10.7±1.0 km. Plasma activities of the studied enzymes were determined using an appropriate diagnostic assay kit. Results: Our results indicate that total LDH activity could be a useful tool in evaluating physical fitness among athletes. We simultaneously established that ChE could not be a marker useful in assessing metabolic response to physical effort in athletes. Moreover, our results suggest that post-effort changes in ALP activity might be used to estimate early symptoms of certain vitamin deficiencies in an athlete’s diet. Conclusions: We confirmed that the assessment of activity of selected traditional diagnostic enzymatic markers provides information about muscle state after physical effort. Kratak sadržaj Uvod: Dugoročno i intenzivno flzičko naprezanje izaziva meta- boličke i biohemijske promene radi sportskih ali i nesportskih ciljeva. S obzirom na važnost aerobnog treninga za fudbalere, ova studija imala je za cilj određivanje promena u aktivnosti- ma: kreatinin kinaze (CK), kreatin kinaze MB (CKMB), laktat dehidrogenaze (LDH), a-hidroksibutirat dehidrogenaze (HBDH), holinesteraze (ChE) i alkalne fosfataze (ALP) u okviru odgovora na trčanje napolju, na poludugoj stazi, u aerobnim uslovima, _kod igrača fudbala muškog i ženskog pola. Metode: Šesnaest učesnika starosti 21,9±2 godine (žene) i 18,4±0,5 godina (muškarci), dobrovoljno regrutovanih fud- balera, učestvovalo je u trci napolju, u kojoj su žene prelazile 7,4±0,3 km a muškarci razdaljinu od 10,7±1,0 km. Aktiv- nosti proučavanih enzima u plazmi određene su odgova- rajučim dijagnostičkim testovima. Rezultati: Naši rezultati pokazuju da bi ukupna aktivnost LDH mogla ^>iti korisno sredstvo za procenjivanje fizičke spremnos- ti kod sportista. Istovremeno smo ustanovili da ChE ne može biti koristan marker za određivanje metaboličkog odgovora na fizičko naprezanje kod sportista. Pored toga, naši rezultati pokazuju da se promene u aktivnosti ALP posle naprezanja mogu koristiti za otkrivanje ranih simptoma deficijencije nekih vitamina u ishrani sportista. Zaključak: Potvrdili smo da određivanje aktivnosti izabranih tradicionalnih dijagnostičkih enzimskih markera donosi infor- macije o stanju mišića posle fizičkog naprezanja.

The GABPB1 gene A/G polymorphism in Polish rowers

The GABPB1 gene A/G polymorphism in Polish rowers Nuclear respiratory factor 2 (NRF2), also referred to as the GA-binding protein (GABP) transcription factor, is a key transcriptional activator of many nuclear genes which encode a wide range of mitochondrial enzymes. The variants of the GABPB1 gene encoding the beta1 subunit of NRF2 protein have been associated with physical performance, particularly endurance. The aim of this study was to confirm the possible importance of the A/G polymorphism (rs7181866) in intron 3 of the GABPB1 gene in Polish rowers. The study was carried out on 55 Polish rowers and sedentary individuals, to evaluate the possible relationships between genotype and physical performance. DNA was extracted from buccal cells donated by the subjects. Genotyping was carried out by PCR-RFLP. The results revealed that the frequency of the GABPB1 A/G genotype (89.09% AA; 10.91% AG, 0% GG; vs. 97.69% AA; 2.31% AG; 0.00% GG) %; P = 0.012) and G allele (5.50% vs. 1.17%; P = 0.014) was significantly higher in the rowers compared to controls. The results suggest that the GABPB1 gene can be taken into consideration as a genetic marker in endurance athletes. However, these conclusions should be supported with more experimental studies on other GABPB1 polymorphisms and other genes in elite endurance athletes.

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

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

Influence of biological factors on injuries occurrence in the Polish population

INTRODUCTION AND OBJECTIVE Anterior cruciate ligament rupture is one of the most common knee injuries in sports. Although various intrinsic and extrinsic risk factors have been identified, the exact aetiology of the injury is not yet fully understood. Single nucleotide polymorphisms (SNPs) in the collagen type I (COL1A1) gene have been shown to be associated with several complex connective tissue disorders. The aim of this study was to examine the association of -1997G/T polymorphisms in the COL1A1 gene with ACL ruptures in Polish recreational skiers in a case-control study. MATERIALS AND METHODS A total of 180 male and female recreational skiers with surgically diagnosed with primary ACL ruptures were recruited for the study, all of whom qualified for ligament reconstruction. The control group was comprised of 245 apparently healthy male and female skiers with a comparable level of exposure to ACL injury, none of whom had any self-reported history of ligament or tendon injury. DNA samples extracted from the oral epithelial cells were genotyped for -1997G/T polymorphisms using PCR method. RESULTS Genotype distribution in the cases (GG-82.2% GT-16.7%; TT-1.1%) showed significant difference (P=0.036) compared to controls (GG-71.4% GT-26.5%; TT-2.2%). The frequency of the GG genotype in the ACL rupture group was also statistically significant (p=0.011, Fishers exact test recessive mode: GG vs GT+TT). The frequency of the G allele was higher in these cases (90.6%), and also statistically significant (p=0.012) when compared with controls (84.7%). CONCLUSION The results obtained indicate that the -1997G/T COL1A1 gene is one of the genetic markers to be taken into the consideration in the identification of the risk of ACL injury.

CKM gene polymorphism in Russian and Polish rowers

Muscle-specific creatine kinase (CKMM) plays a vital role in the energy homeostasis of muscle cells. The A/G variation (rs8111989) located in the 3′-untranslated region of the CKM gene has been found to be the most relevant in terms of genetic testing in sport. The aim of the presented study was to test the hypothesis that the G allele might represent a genetic element that contributes to the improvement of endurance performance in Polish and Russian rowers. The distribution of the CKM genotypes was examined in a group of Polish and Russian athletes in comparison with non-athlete controls. There were no statistical differences between the rowers and the control groups across the CKM genotypes when Polish or Russian participants were analyzed. Based on the obtained results, it may be speculated that the CKM A/G polymorphism is not an important determinant of endurance performance level in Polish and Russian rowers. However, these results should be interpreted with caution as they can be limited by many factors.