Sigal Ben-Zaken

Frequency of the MSTN Lys(K)-153Arg(R) polymorphism among track & field athletes and swimmers

UNLABELLED The myostatin (MSTN) Lys(K)-153Arg(R) polymorphism may influence skeletal muscle phenotypes. Carrying the rare R allele was associated with greater muscle mass. PURPOSE The aim of the present study was to assess the frequency of the MSTN Lys(K)-153Arg(R) polymorphism among Israeli track and field athletes (n=185) and swimmers (n=80). METHODS Track and field athletes were divided into long distance runners (major event 5000 m-marathon, n=113) and power athletes (major event 100200 m sprints and long jump, n=72). Swimmers were divided into long-distance swimmers (major event: 800-1500 m, n=38), and short-distance swimmers (major event: 50-100 m, n=42). The control group included 118 non-athletes healthy participants. RESULTS Twenty-seven track and field athletes (14.6%) and 7 swimmers (8.8%) were carriers of the rare MSTN R allele, and only two carried the 153RR genotype (0.8%). MSTN 153R allele frequency was significantly higher in top-compared to national-level among long-distance runners (26% versus 8%, p<0.05), short distance runners (16% versus 9%, p<0.05), and all runners combined (20% versus 8%, p<0.05), but not in top- compared to national-level swimmers. The frequency of arginine carriers was significantly greater among long compared to short-distance swimmers (16% versus 2%, p<0.03). CONCLUSION In contrast to elite endurance and power track and field athletes, the MSTN 153RR genotype was not found in short distance-swimmers, and among the long distance-swimmers it was not associated with top level swimming performance. Whether evaluation of the MSTN K153R polymorphism can be used for sports selection in young athletes needs to be further studied.

Increased prevalence of MnSOD genetic polymorphism in endurance and power athletes

Abstract The purpose of the current study was to determine the frequency distribution of manganese superoxide dismutase (MnSOD) Val-9Ala polymorphism (rs1799725) among 195 trained endurance and power athletes and 240 healthy controls. Genomic DNA was extracted using a standard protocol. Genotyping of the MnSOD Val-9Ala polymorphism was performed using polymerase chain reaction (PCR). Results showed a higher proportion of the Val/Ala and Ala/Ala genotype, and a lower proportion of Val/Val genotype, in the athletes group compared with that of the controls. The Ala allele frequency was significantly higher (p < 0.001) in the athletes group (46%) compared with that in the control (29%). Interestingly, there was no difference between the endurance and power athletes. In addition, the frequency of Ala/Ala genotype was significantly higher (p < 0.05) among top (international and Olympic-level) athletes (29%) compared with that among national-level endurance and power athletes (17%). We conclude that 1) the Ala allele is more frequent in athletes than in controls; and 2) the higher frequency of the Ala allele was noted in both endurance and power athletes compared with that in controls, suggesting that the positive association between the Ala allele and athletic performance may be related to ROS-related angiogenesis, mitochondrial biosynthesis, and muscle hypertrophy, and not to MnSOD aerobic properties.

Neuromuscular and inflammatory responses to handball small-sided games: the effects of physical contact

The aim of this study was to investigate the influence of physical contact on neuromuscular impairments and inflammatory response during handball small‐sided games. Using a counterbalanced design, 12 elite male junior handball players were divided into two groups: contact (C‐SSG) and no‐contact (NC‐SSG), performing both contact and no‐contact small‐sided games, in reverse order on two training sessions separated by 5 days. The methodology and rules were identical for the two SSG regimens, with the only difference being the inclusion or prohibition of upper body use for physical contacts. Upper and lower body neuromuscular performances and blood concentrations of inflammatory cytokine IL‐6 were assessed before and immediately after the games. During small‐sided games, video analysis was used to establish the physical contact counts. Significant differences were found in most upper and lower limbs muscles kinetic variables and in the physical contact events (all P < 0.001) following the two training regimens. There was an increase in IL‐6 after C‐SSG and no changes following NC‐SSG (P < 0.05 and P = 0.12, respectively). Moreover, a strong correlation was found between the number of physical contacts and IL‐6 responses (r = 0.971, P < 0.001) in C‐SSG. This study indicates that an inflammatory response and large upper and lower body neuromuscular impairments result from physical contact in elite handball players. These outcomes outline the specific physiological profile of C‐SSG that, in turn, might be used by practitioners and coaches as a practical approach to strategically select exercises in athletes overall training program.

ACTN3 Polymorphism: Comparison Between Elite Swimmers and Runners.

BackgroundThe human ACTN3 gene encodes α-actinin-3, an actin-binding protein with a pivotal role in muscle structure and metabolism. A common genetic single nucleotide polymorphism (SNP) at codon 577 of the ACTN3 results in the replacement of an arginine (R) with a stop codon (X). The R allele is a normal functional version of the gene, whereas the X allele contains a sequence change that completely stops production of functional α-actinin-3 protein. The ACTN3 R577X polymorphism was found to be associated with power athletic performance especially among track and field athletes. The aim of the current study was to compare allelic and genotype frequencies of the ACTN3 R577X polymorphism among runners and swimmers specializing in different distances, and >non-athletic controls.MethodsOne hundred and thirty-seven runners, 91 swimmers and 217 controls, participated in the study. Runners were assigned to two subgroups according to their event specialty—long-distance runners (LDR) and short-distance runners (SDR). Swimmers were also assigned to two subgroups according to their main swimming event—long-distance swimmers (LDS) and short-distance swimmers (SDS). Genomic DNA was extracted from peripheral EDTA-treated anti-coagulated blood using a standard protocol. Genotypes were determined using the Taqman allelic discrimination assay.ResultsRunners’ genotype and allele differed significantly between LDR, SDR, and controls, with the lowest prevalence of RR genotype and R allele among LDR. XX genotype and X allele prevalence was significantly higher among LDR compared to the other groups (p < 0.01 for all). On the other hand, swimmers’ genotype and allele frequencies did not differ significantly between subgroups (LDS and SDS). Yet, LDS had significantly higher RR genotype and R allele frequencies compared to LDR.ConclusionsThe findings suggest that while ACTN3 R577X polymorphism is a genetic polymorphism that may distinguish between SDR and LDR, it cannot differentiate significantly between SDS and LDS.Trial RegistrationClinicalTrials.gov: NCT01319032Key PointsACTN3 R577X polymorphism is largely associated with running events specialization, with high prevalence of RR genotype and R allele frequency among short-distance runners compare to long-distance runners.Unlike in running, ACTN3 R577X polymorphism is not associated with swimming specialization.The inability of the ACTN3 R577X polymorphism to distinguish between swimmers specializing in different events, presumably since other factors such as body physique, technique, tactics, etc., are more likely to determine such a distinction.

IGF-I receptor 275124A>C (rs1464430) polymorphism and athletic performance

OBJECTIVES To examine the prevalence of the Insulin-Like Growth Factor-I receptor (IGF-IR) 275124A>C polymorphism, known to be associated with exercise-related cardiac hypertrophy, among elite endurance and power athletes. DESIGN One hundred and fifty-nine athletes (118 men and 41 women, age: 35.9±12.2 yrs) participated in the study. METHODS We hypothesized that presence of the A allele will be significantly more common among endurance athletes (n=77) compared to power athletes (n=82) and non-physically active controls (n=68). Athletes within each group were further divided according to their individual best performance into elite athletes (those who had represented the country in international track-and-field or triathlon competitions or in the Olympic Games) and national-level athletes. RESULTS The prevalence of the AA genotype was significantly higher (p<0.05) in the endurance athletes group (49%) compared to the power athletes group (33%), but did not differ from the control group (46%). There was no significant difference in the prevalence of the AA genotype between elite and national level endurance athletes (44% versus 52%, respectively). In contrast, among power athletes, the prevalence of the AA genotype was significantly lower in the elite compared to national level athletes (17% versus 42%, respectively; p<0.05). CONCLUSIONS The results of the present study may suggest that the IGF-IR AA polymorphism is beneficial for endurance-type sports, but is not associated with elite endurance performance. In contrast, the presence of the AA genotype may be a disadvantage in power sports. All together the results of the present study suggest that IGF-IR polymorphism may differentiate between the two edges of the endurance-power athletic performance spectrum.

High prevalence of the IGF2 rs680 GG polymorphism among top-level sprinters and jumpers

Previous studies have shown that the IGF1 polymorphism is associated with greater muscle mass and improved power athletic ability, but very little is known about the IGF2 polymorphism and athletic performance. PURPOSE The aim of the present study was to assess the frequency distribution of the IGF2 rs680 polymorphism among Israeli athletes. METHODS 185 short- (n=72) and long-distance (n=113) runners, 94 short- (n=44) and long-distance (n=50) swimmers, 54 weight lifters and 111 controls participated in the study. Genomic DNA was extracted from peripheral EDTA treated anti-coagulated blood using a standard protocol. Genotyping of the IGF2 A/G polymorphism (rs680) was performed using allelic discrimination assay. RESULTS The frequency of IGF2 (rs680) G allele carriers was significantly greater among top compared to national-level track and field sprinters and jumpers (p<0.05). The IGF2 (rs680) GG genotype frequency was significantly greater among track and field sprinters and jumpers compared to weight lifters p<0.02), and among top-level sprinters and jumpers compared to top-level weight lifters p<0.01). There were no statistically significant differences in the IGF2 (rs680) GG genotype frequency among endurance athletes and between the swimmers and the other sports disciplines and the controls. CONCLUSIONS While a single polymorphism cannot determine athletic success or failure, the findings of the present study suggest a potential importance of the IGF2 polymorphism, mainly regarding speed sport performance.

IGF-I and IGF-I receptor polymorphisms among elite swimmers.

In recent years several genetic polymorphisms related to the GH-IGF-I axis were suggested to promote athletic excellence in endurance and power sports. We studied the presence of the C-1245T SNP (rs35767), a nucleotide substitution in the promoter region of the IGF-I gene, and the presence of the 275124A > C SNP (rs1464430), a common nucleotide substitution in the intron region of the IGF-I receptor (IGF-IR) gene in elite long and short-distance swimmers compared with nonphysically active controls. The rare T/T IGF-I polymorphism was found only in 5.3% of the long-distance swimmers, and was not found at all in the short-distance swimmers or among the control group participants. The prevalence of the IGF-I receptor AA genotype was significantly lower in the swimming group as a whole (35%) compared with the control group (46%), in particularly due to reduced frequency of the AA genotype among short-distance swimmers (26%). In contrast to previous reports in elite endurance and power track and field athletes, single nucleotide polymorphisms of the IGF-I and the IGF-IR were not frequent among elite Israeli short- and long-distance swimmers emphasizing the importance of other factors for excellence in swimming. The results also suggest that despite seemingly similar metabolic characteristics different sports disciplines may have different genetic polymorphisms. Thus, combining different disciplines for sports genetic research purposes should be done with extreme caution.

The combined frequency of IGF and myostatin polymorphism among track & field athletes and swimmers

OBJECTIVE The IGF C-1245T (rs35767) and the myostatin (MSTN) Lys(K)-153Arg(R) genetic polymorphism may influence skeletal muscle phenotypes and athletic performance. Carrying the minor IGF T allele and the myostatin rare R allele was associated with higher circulating IGF-I levels, greater muscle mass and improved performance. The aim of the present study was to assess the combined frequency of the IGF 1245T (rs35767) and MSTN 153Arg(R) polymorphism among Israeli track and field athletes (n=111) and swimmers (n=80). DESIGN Track & field athletes were divided to long distance runners (major event 5000m-marathon, n=63) and power athletes (major event 100-200m sprints and long jump, n=48). Swimmers were divided into long-distance swimmers (major event: 400-1500m, n=38), and short-distance swimmers (major event: 50-100m, n=42). RESULTS Carrying both mutations was significantly higher (p<0.05) among long distance runners (LDR, 17%) compared to short distance runners (SDR, 10%), long distance swimmers (LDS, 8%), short distance swimmers (SDS, 2%) and controls (n=111, 7%). Carrying both mutations was significantly higher (p<0.05) among LDS compared to SDS (8% versus 2%, p<0.05). Among LDR and LDS carriers of both mutations, 40% and 25% were of elite level, respectively. Despite the fact that carrying both mutations among SDR and SDS was not greater than controls, all SDR and SDS carriers were elite athletes. CONCLUSION Our finding suggests that carrying both IGF 1245T and MSTN 153Arg(R) polymorphisms may contribute for long distance running success but not necessarily to elite performance. In contrast, although the frequency was not higher than the general population, all carriers of both mutations among short distance runners and swimmers were of elite competitive caliber. Whether evaluation of the IGF 1245T and MSTN 153R polymorphism can be used for sports selection in young athletes needs to be further studied.

Increased Prevalence of the IL-6 -174C Genetic Polymorphism in Long Distance Swimmers

Abstract The IL-6 -174G/C single nucleotide polymorphism (SNP) functionally affects IL-6 activity, with the G-allele associated with increased IL-6 levels. The C-allele was found to be associated with exercise-induced skeletal muscle damage. The aim of the present study was to examine the association between the IL-6 -174G/C polymorphism and athletic performance among elite swimmers and runners. The study sample included 180 track and field athletes and 80 swimmers. Track and field athletes were assigned to three sub-groups: long-distance runners, middle-distance runners and short-distance runners. Swimmers were assigned to two subgroups: long-distance swimmers and short-distance swimmers. The control group consisted of 123 non-athletic healthy individuals. Genomic DNA was extracted from peripheral blood following a standard protocol. Genotyping was performed using polymerase chain reaction (PCR). The CC genotype and C-allele frequency were significantly higher in the long-distance swimmers (18 and 43%, respectively) compared to the long-distance runners (3 and 14%, respectively, p < 0.001); middle-distance runners (4 and 22%, respectively, p < 0.001); and controls (5 and 19%, respectively, p < 0.001). In addition, the CC genotype and C-allele frequency were significantly higher (p < 0.001) in long-distance swimmers compared to short-distance swimmers (18 versus 5% and 43 versus 29% for the CC genotype and C-allele frequency, respectively). The higher frequency of the C-allele and CC genotype among long-distance swimmers suggests that the rarity of exercise-associated rhabdomyolysis among swimmers is probably related to other sports-specific or water-related protective mechanisms. It is possible that swimming selection in talented endurance athletes who are C-allele carriers represents an example of genetically-dependent sports selection.