Krzysztof Ficek

Gene variants within the COL1A1 gene are associated with reduced anterior cruciate ligament injury in professional soccer players

OBJECTIVES To examine the association of the COL1A1 -1997G/T and +1245G/T polymorphisms, individually and as haplotypes, with anterior cruciate ligament ruptures in professional soccer players. DESIGN Subjects were 91 male professional soccer players with surgically diagnosed primary anterior cruciate ligament ruptures. The control group consisted of 143 apparently healthy male professional soccer players, who were without any self-reported history of ligament or tendon injury. Both subjects and healthy controls are from the same soccer teams, of the same ethnicity (Polish, East-Europeans for ≥3 generations), a similar age category, and had a comparable level of exposure to anterior cruciate ligament injury. METHODS Genomic DNA was extracted from the oral epithelial cells using GenElute Mammalian Genomic DNA Miniprep Kit (Sigma, Germany). All samples were genotyped using a Rotor-Gene real-time polymerase chain reaction. RESULTS Genotype distributions for both polymorphisms met the Hardy-Weinberg expectations in both subjects and controls (p>0.05). Higher frequency of the COL1A1 G-T (-1997G/T and +1245G/T polymorphisms) haplotype was significantly associated with reduced risk for anterior cruciate ligament rupture (Hap.score -1.98, p=0.048). The TT genotype was under-represented in the anterior cruciate ligament rupture group. However, this result was not statistically significant (p=0.084 Fishers exact test, recessive mode: TT vs GT+GG). CONCLUSIONS Higher frequency of the COL1A1 G-T haplotype is associated with reduced risk of anterior cruciate ligament injury in a group of professional soccer players. Consequently, carrying two copies the COL1A1 G-T haplotype may be protective against anterior cruciate ligament injury.

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.

Interactions between collagen gene variants and risk of anterior cruciate ligament rupture

Abstract The COL5A1 and COL12A1 variants are independently associated with modulating the risk of anterior cruciate ligament (ACL) rupture in females. The objective of this study was to further investigate if COL3A1 and COL6A1 variants independently, as well as, collagen gene–gene interactions, modulate ACL rupture risk. Three hundred and thirty-three South African (SA, n = 242) and Polish (PL, n = 91) participants with diagnosed ACL ruptures and 378 controls (235 SA and 143 PL) were recruited. Participants were genotyped for COL3A1 rs1800255 G/A, COL5A1 rs12722 (T/C), COL6A1 rs35796750 (T/C) and COL12A1 rs970547 (A/G). No significant associations were identified between COL6A1 rs35796750 and COL3A1 rs1800255 genotypes and risk of ACL rupture in the SA cohort. The COL3A1 AA genotype was, however, significantly (p = 0.036) over-represented in the PL ACL group (9.9%, n = 9) when compared to the PL control (CON) group (2.8%, n = 4). Although there were genotype distribution differences between the SA and PL cohorts, the T+A-inferred pseudo-haplotype constructed from COL5A1 and COL12A1 was significantly over-represented in the female ACL group when compared to the female CON group within the SA (T+A ACL 50.5%, T+A CON 38.1%, p = 0.022), PL (T+A ACL 56.3%, T+A CON 36.3%, p = 0.029) and combined (T+A ACL 51.8%, T+A CON 37.5%, p = 0.004) cohorts. In conclusion, the novel main finding of this study was a significant interaction between the COL5A1 rs12722 T/C and COL12A1 rs970547 A/G variants and risk of ACL injury. These results highlight the importance of investigating gene–gene interactions in the aetiology of ACL ruptures in multiple independent cohorts.

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.

Overrepresentation of the COL3A1 AA genotype in Polish skiers with anterior cruciate ligament injury

Although various intrinsic and extrinsic risk factors for anterior cruciate ligament (ACL) rupture have been identified, the exact aetiology of the injury is not yet fully understood. Type III collagen is an important factor in the repair of connective tissue, and certain gene polymorphisms may impair the tensile strength. The aim of this study was to examine the association of the COL3A1 rs1800255 polymorphism with ACL rupture in Polish male recreational skiers. A total of 321 male Polish recreational skiers were recruited for this study; 138 had surgically diagnosed primary ACL ruptures (ACL-injured group) and 183 were apparently healthy male skiers (control group – CON) who had no self-reported history of ligament or tendon injury. Both groups had a comparable level of exposure to ACL injury. Genomic DNA was extracted from the oral epithelial cells. All samples were genotyped on a real-time polymerase chain reaction instrument. The genotype distribution in the ACL-injured group was significantly different than in CON (respectively: AA=10.1 vs 2.2%, AG=22.5 vs 36.1, GG=67.4 vs 61.8%; p=0.0087). The AA vs AG+GG genotype of COL3A1 (odds ratio (OR)=5.05; 95% confidence interval (CI), 1.62-15.71, p=0.003) was significantly overrepresented in the ACL-injured group compared with CON. The frequency of the A allele was higher in the ACL-injured group (21.4%) compared with CON (20.2%), but the difference was not statistically significant (p=0.72). This study revealed an association between the COL3A1 rs1800255 polymorphism and ACL ruptures in Polish skiers.

Effect of 12-week-long aerobic training programme on body composition, aerobic capacity, complete blood count and blood lipid profile among young women

Background Numerous data suggest that aerobic-type exercise improves lipoprotein-lipid profiles, cardiorespiratory fitness and body composition in young women. The aim of this study was to evaluate the biological response to high-low impact aerobic fitness among young women. Materials and methods Thirty-four young women aged 22 (19-24) years were divided into three groups: underweight (N = 10), normal weight (N = 12) and overweight (N = 12). Aerobic capacity, anthropometry and body composition together with complete blood count and lipid profile were determined before and after completion of a 12-week-long training period. Results The training programme caused a significant decrease in weight (by 4.3 kg, P = 0.003), body mass index (by 1.3 kg/m2, P = 0.003), free fat mass (by 2.1 kg, P = 0.002), total body water (by 0.4 kg, P = 0.036), percentage of fat (by 3 percent points, P = 0.002), all analyzed skinfolds thicknesses, as well as the lipid profile in overweight group, and no changes in normal weight group. Significant changes in weight (by 4.2 kg, P = 0.005), body mass index (by 0.9 kg/m2, P = 0.005), crus skinfold thickness (by 3.3 mm, P = 0.028), and in maximum oxygen uptake (by 2.49 mL/kg/min; P = 0.047) were observed among underweight women. No change in total blood count was observed in all groups. Conclusion Twelve-week-long fitness training programme of two alternating styles (low and high impact) has a beneficial effect on overweight young women.

Does the A9285g Polymorphism in Collagen Type XII α1 Gene Associate with the Risk of Anterior Cruciate Ligament Ruptures

One of the most severe injuries sustained by athletes is rupture of the anterior cruciate ligament (ACL). Recent investigations suggest that a predisposition for ACL rupture may be the result of specific genetic sequence variants. In light of this, we decided to investigate whether the COL12A1 A9285G polymorphism was associated with ACL ruptures in Polish football players. We compared genotypic and allelic frequencies of the COL12A1 A9285G polymorphism in two groups of athletes: 91 male football players (23 ± 3 years) with surgically diagnosed primary ACL ruptures who qualified for ligament reconstruction (cases) and 143 apparently healthy, male football players of the same ethnicity, a similar age category, and a comparable level of exposure to ACL injury, who were without any self-reported history of ligament or tendon injury (controls). DNA samples extracted from the oral epithelial cells were genotyped by using a real-time polymerase chain reaction (Ri-TiPCR) method. The genotype distribution in the cases were not different from those in controls (p = 0.70). The frequency of the G allele was lower in the cases (18.1%) but not statistically significant (p = 0.40) when compared with controls (21.3%). Our results are in contradiction to the hypothesis that the COL12A1 A9285G polymorphism is associated with a predisposition for ACL injury. However, these conclusions should be supported with more experimental studies on COL12A1 polymorphisms.One of the most severe injuries sustained by athletes is rupture of the anterior cruciate ligament (ACL). Recent investigations suggest that a predisposition for ACL rupture may be the result of specific genetic sequence variants. In light of this, we decided to investigate whether the COL12A1 A9285G polymorphism was associated with ACL ruptures in Polish football players. We compared genotypic and allelic frequencies of the COL12A1 A9285G polymorphism in two groups of athletes: 91 male football players (23 ± 3 years) with surgically diagnosed primary ACL ruptures who qualified for ligament reconstruction (cases) and 143 apparently healthy, male football players of the same ethnicity, a similar age category, and a comparable level of exposure to ACL injury, who were without any self-reported history of ligament or tendon injury (controls). DNA samples extracted from the oral epithelial cells were genotyped by using a real-time polymerase chain reaction (Ri-Ti-PCR) method. The genotype distribution in the cases were not different from those in controls (p = 0.70). The frequency of the G allele was lower in the cases (18.1%) but not statistically significant (p = 0.40) when compared with controls (21.3%). Our results are in contradiction to the hypothesis that the COL12A1 A9285G polymorphism is associated with a predisposition for ACL injury. However, these conclusions should be supported with more experimental studies on COL12A1 polymorphisms.