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The aim of this study is to investigate the influence of the MCT1 T1470A polymorphism (rs1049434) on repeated sprint ability (RSA) and lactate accumulation after RSA testing. Twenty-six elite Italian male football players (age: 17.7 ± 0.78 years; height: 179.2 ± 7.40 cm; weight: 72.1 ± 5.38 kg) performed RSA testing (6 × 30-m sprints with an active recovery between sprints), and lactate measurements were obtained at 1, 3, 5, 7, and 10 min post-exercise. Genotyping for the MCT1 T1470A polymorphism was performed using PCR. Genotype distributions were in Hardy–Weinberg equilibrium, being 42% wildtype (A/A), 46% heterozygotes (T/A), and 12% mutated homozygotes (T/T). Significant differences between genotypic groups were found in the two final sprint times of the RSA test. Under a dominant model, carriers of the major A-allele (Glu-490) in the dominant model showed a significantly lower sprint time compared to footballers with the T/T (Asp/Asp) genotype (5th Sprint time: A/A + T/A = 4.60 s vs TT = 4.97 s, 95% CI 0.07–0.67, p = 0.022; 6th Sprint: A/A + T/A = 4.56 s vs T/T = 4.87 s, 95% CI 0.05–0.57, p = 0.033). The T1470A (Glu490Asp) polymorphism of MCT1 was associated with RSA. Our findings suggest that the presence of the major A-allele (Glu-490) is favourable for RSA in football players.

Athletic ability is influenced by several exogenous and endogenous factors including genetic component. Hundreds of gene variants have been proposed as potential genetic markers associated with fitness-related phenotypes as well as elite-level athletic performance. Among others, variants within the PPARA gene that code for the peroxisome proliferator activated receptor α are of potential interest. The main goal of the present study was to determine PPARA (G/C, rs4253778) genotype distribution among a group of Polish, Lithuanian and Italian international level male gymnasts and to compare our findings with those of previous research on the frequency of the PPARA intron 7 C allele/CC genotype in power/strength-oriented athletes. A total of 464 male subjects (147 gymnasts and 317 controls) from Poland (n = 203), Italy (n = 146) and Lithuania (n = 107) participated in the study. No statistically significant differences were found in any of the analyzed cohorts. However, a significantly higher frequency of the CC genotype of the PPARA rs4253778 polymorphism was observed when all gymnasts were pooled and compared with pooled control using a recessive model of inheritance (OR = 3.33, 95% CI = 1.18-10, p = 0.022). It is important to know that we investigated a relatively small sample of male European gymnasts and our results are limited only to male participants. Thus, it is necessary to validate our results in larger cohorts of athletes of different ethnicities and also in female gymnasts to find out whether there is a gender effect.

The second-to-fourth-digit (2D:4D) ratio has been widely used as a putative marker of prenatal exposure to testosterone in health, behavioral and sport sciences, but it has only been used few times regarding combat athletes. This study involved 200 male elite combat athletes (Olympic wrestling, kickboxing, judo, taekwondo and karate) and 179 males not participating in any sports. The lengths of the index finger (2D) and ring (4D) finger were measured using computer-assisted image analysis (AutoMetric 2.2 software). The 2D:4D ratio of combat athletes was significantly lower than that of the controls. Moreover, a lower 2D:4D ratio was found among wrestlers, judo athletes and kickboxers than in the control group, and a higher 2D:4D ratio was found, but with borderline significance, among karate and taekwondo athletes. Moreover, multivariate analysis adjusted for age showed that judo, Olympic wrestling and kickboxing athletes combined had 2D:4D ratios significantly lower (by 0.035 on average) than those of the rest of the subjects and that karate and taekwondo athletes together had 2D:4D ratios significantly higher (by 0.014 on average) than those of the rest of the subjects. The research results and literature review indicate that knowledge about the functional meaning of the 2D:4D ratio is still too fragmentary and it is too early to use the 2D:4D ratio in the selection of sport talent; however, it may be a useful criteria when screening prospective athletes to be recruited to a team. That is why 2D:4D reference values should be defined for particular sports.

The purpose of this study was to investigate the association between physical effort and DNA methylation in the promoter region of the dopamine transporter gene (DAT1). The research group included 100 athletes (mean age = 22.88, SD = 6.35), whereas the control group were 239 healthy male volunteers matched for age (mean age = 21.69, SD = 3.39). Both, the control and the research group, included individuals with Caucasian origin from the same region of Poland. DNA was extracted from peripheral blood leukocytes using a DNA isolation kit (A&A Biotechnology, Gdynia, Poland). Bisulfite modification of 250 ng DNA was performed using the EZ DNA Methylation Kit (Zymo Research, Orange, CA, USA), according to manufacturer's instructions. The methylation-specific PCR assay was carried out in a Mastercycler epgradient S (Eppendorf, Germany). We observed that the level of general methylation of the CpG island was similar for both groups. Further exploration of individual CpG sites allowed to notice that there were significant differences in methylation status in specific positions. Nonetheless, there was no rule that would indicate either higher or lower methylation of individual sites, four of them were methylated at a higher level (positions 1, 4, 5, 7, 8, 9, 10, 11, 12, 13, 16, 17, 18, 23, 25, 26, 27, 29 and 30), while one showed an inverse trend (position 3). More precise analysis with the usage of Bonferroni correction for multiple tests indicated that differences in CpG site methylation were mainly increased in several positions and decreased in position 3.

Sport climbing will become an official event at the 2020 Tokyo Olympics; it is a popular wilderness sport among athletes and amateurs. Our previous study suggested that the T1470A polymorphism (rs1049434) of the monocarboxylate transporter 1 (MCT1) gene is associated with athletic performance and physiological phenotypes. The purpose of this study was to investigate the frequency of MCT1 T1470A polymorphism in Polish and Japanese climbers using a case-control study. Our sample consisted of 226 climbers (Japanese: n = 100, 64 male and 36 female; Polish: n = 126, 97 male and 29 female) and 1028 non-athletic controls (Japanese, n = 407; Polish = 621) who were genotyped for the MCT1 T1470A polymorphism (rs1049434) using the TaqMan SNP genotyping assay or restriction enzyme. The frequency of the TT genotype and T allele was significantly higher in climbers than in controls among the Polish subjects (genotype: p = 0.030, allele: p = 0.010); however, there were no significant differences in the genotype and allelic frequencies between the Japanese climbers and controls (genotype: p = 0.968; allele: p = 0.803). Our results suggested that the frequency of the T allele (TT+TA genotype) in the MCT1 T1470A polymorphism is over-represented in Polish climbers but not in Japanese climbers. In addition, the frequency of the T allele and TT genotype in Polish lead climbers is higher than that in controls.

Genetic polymorphisms within physiologically relevant KIF6 and APOE genes were examined in the context of athletic performance. KIF6 and ApoE are involved in cardiovascular health, modulation of li...

Muscle stiffness, muscle elasticity and explosive strength are the main components of athletes’ performance and they show a sex-based as well as ethnicity variation. Muscle stiffness is thought to be one of the risk factors associated with sports injuries and is less common in females than in males. These observations may be explained by circulating levels of sex hormones and their specific receptors. It has been shown that higher levels of estrogen are associated with lower muscle stiffness responsible for suppression of collagen synthesis. It is thought that these properties, at least in part, depend on genetic factors. Particularly, the gene encoding estrogen receptor 1 (ESR1) is one of the candidates that may be associated with muscle stiffness. Muscle elasticity increases with aging and there is evidence suggesting that titin (encoded by the TTN gene), a protein that is expressed in cardiac and skeletal muscles, is one of the factors responsible for elastic properties of the muscles. Mutations in the TTN gene result in some types of muscular dystrophy or cardiomyopathy. In this context, TTN may be regarded as a promising candidate for studying the elastic properties of muscles in athletes. The physiological background of explosive strength depends not only on the muscle architecture and muscle fiber composition, but also on the central nervous system and functionality of neuromuscular units. These properties are, at least partly, genetically determined. In this context, the ACTN3 gene code for α-actinin 3 has been widely researched.

Background Little data are available on the subject of gut microbiota composition in endurance athletes as well as connections between diet and specific bacteria abundance. However, most studies suggest that athletes’ microbiota undergoes major alterations, which may contribute to increased physical performance. Therefore, we decided to investigate differences in gut microbiota between healthy controls and endurance athletes. Materials and methods Stools samples were collected from 14 marathon runners, 11 cross-country skiers and 46 sedentary healthy controls. The athletes’ diet evaluation was performed with 24-h diet recall, using the Aliant programme. The 16S gene sequencing was performed using the Ion 16S Metagenomics Kit on Ion Torrent PGM sequencer. Taxonomic classification and diversity indices computation was performed with Mothur. Results 20 and 5 taxa differentiated healthy controls from marathon runners and cross-country skiers, respectively. Both groups presented a lowered abundance of major gut microbiota genus, Bacteroidetes and higher abundance of Prevotella. The athletes’ microbiome was also more diverse in cross-country skiers than the one of sedentary controls (Simpson index p-value at 0.025). Thirty-one strong correlations (Spearman’s coefficient > 0.6) were uncovered between bacteria abundance and diet, including inverse correlation of Prevotella with sucrose intake, Phascolarctobacterium with polyunsaturated fatty acids as well as positive correlation of Christensenellaceae with folic acid intake and Agathobacter with fiber amount in diet. Conclusions The excessive training associates with both differences in composition and promotion of higher bacterial diversity. Taxons enriched in athletes are known to participate in fiber fermentation.

Personality traits, especially in sport are modulatory factors of athletes’ behavior – his/ her conscientiousness, the will to achieve an aim, perseverance and motivation of activity. Not only are biological predispositions related to anatomical or biochemical traits of success, but they are also largely determined by personality traits that result from genetic factors. In our research we joined tests of athlete’s personality in correlation with genotypes of the dopamine transporter (DAT1) gene polymorphism. The selection of this polymorphism was based on previous reports connecting the influence of dopamine with motivation and numerous arguments supporting its correlation with human behavior. We observed significant differences among polymorphisms DAT 9/9, 9/10, 10/10 in terms of proportion of particular genotypes between athletes and the control group. We also found significant differences in the NEO FFI sten scale for conscientiousness. We noticed that anxiety was related with genotypic variants of DAT1, specifically the 9/10 VNTR variant, which conditioned lower levels of anxiety in the group of tested athletes. By contrast, the lower sten value of agreeability was statistically significant for the group of athletes that were carriers of the 10/10 VNTR genotype. Heterozygous 9/10 VNTR among athletes showed lower levels of anxiety in comparison with the control group, whereas agreeability determined using the NEO FFI scale represented a lower value among athletes that had the 10/10 polymorphism. We may thus conclude that the presence of polymorphic variants of the dopamine transporter gene corresponds to athletes’ personality traits.

Interleukin 6 (IL-6) is a cytokine with both pro- and anti-inflammatory actions, but is also considered as a “metabolic hormone” involved in immune responses, affecting glucose, protein and lipid metabolism. It has been proposed to be related to obesity, but various results have been presented. Thus, in this study, the very homogenous population of young, male military professionals, living in the same conditions involving high physical activity, has been selected to avoid the influence of environmental factors. The subjects were divided into groups depending on the obesity parameters BMI (body mass index) and fat percentage (fat%), and the following IL-6 SNPs (Single Nucleotide Polymorphisms) were analyzed: rs1800795, rs1800796 and rs13306435. No relation was found between obesity parameters and IL-6 polymorphisms rs1800795, rs1800796 and rs13306435. It may be postulated that even if a genetic predisposition involves IL-6 genes, this effect in individuals with obesity of a low grade is minor, or can be avoided or at least markedly reduced by changes in lifestyle.

In the mammalian genome, DNA methylation is an epigenetic mechanism involving the transfer of a methyl group onto the C5 position of the cytosine to form 5-methylcytosine. DNA methylation regulates gene expression by recruiting proteins involved in gene repression or by inhibiting the binding of transcription factors (TFs) to DNA. As there are still many questions concerning the role of methylation in creating personality, we concentrated on searching for such associations. The research group was 100 sports male subjects (mean age = 22.88, SD = 6.35), whereas the control group included 239 healthy male volunteers matched for age (mean age = 21.69, SD = 3.39), both of European origin. The methods used in our research were as follows: DNA isolation, methylation-specific PCR, sequencing chromatophores, all conducted according to the manufacturer’s procedure. To evaluate personality traits, the NEO Five-Factor Personality Inventory (NEO-FFI) and STAI Inventory were used. We observed the existence of a statistically significant correlation for all the aspects of personality covered and CpG islands’ methylation. Nonetheless, we think that the tested group and the number of tested promotor islands in the DAT1 gene are still too small to make explicit conclusions, so it needs further profound analysis.

Four factors—namely, harm avoidance, novelty seeking, reward addiction and persistence—represent the nature of temperament that is not genetically determined in itself. It was shown in earlier studies that a strong propensity to look for novelty or a tendency to engage in risky behavior is correlated with genetic variants in the area of the genes encoding dopamine receptors. Therefore, the aim of this study is to determine whether there is a relationship between personality traits and genetic variants in the area of the DRD2 dopamine receptor gene in MMA athletes. The participants consisted of 85 mixed martial arts (MMA) athletes and 284 healthy, non-MMA male participants. Their personality traits were measured using the Revised Temperament and Character Inventory. Blood was collected for genetic assays and all samples were genotyped using the real-time PCR method. We observed a statistically significant effect of a complex factor of the DRD2 rs1799732 genotype on MMA participants’ control and reward dependence. Engaging in high-risk sport may be associated with several personality characteristics. The DRD2 rs1799732 polymorphism may be associated with reduced harm avoidance in martial arts athletes, thereby modulating athletes’ predisposition to participate in high-risk sport.

The presented study showed the relationship between dopamine receptor gene polymorphism and personality traits in athletes training in martial arts. Behavioral modulation resulting from a balance of the neurotransmitters dopamine and norepinephrine to inactivation of the dorsolateral prefrontal cortex and dysregulation of various pathways involved in attention and impulse control processes, Methods: The study was conducted among martial arts athletes. The study group included 258 volunteers and 284 controls. The genetic test was performed using the real-time PCR method, psychological tests were performed using standardized TCI questionnaires. All analyses were performed using STATISTICA 13. Results: Interaction between martial arts and DRD2 rs1799732 (manual) G/-(VIC/FAM)-ins/del and RD- Harm avoidance and Reward Dependence scale were demonstrated. In athletes, a lower Reward Dependence scale score was associated with the DRD2 rs1799732 (manual)-/-polymorphism compared to the control group., Conclusions: It seems justified to study not only genetic aspects related to brain transmission dopamine in martial arts athletes. In the studied athletes, the features related to reward addiction and harm avoidance are particularly important in connection with the dopaminergic reward system in the brain.

The level of physical activity is conditioned by many different factors, including, among others, the personality traits of a person. Important is the fact that personality traits are a moderately heritable factor and on the basis of the analysis of several genes, various lifetime outcomes can be predicted. One of the most important pathways influencing personality traits is connected to the dopaminergic system, hence, we decided to analyze the DRD2&nbsp, PROM. rs1799732, DRD2 rs1076560, DRD2 Tag1D rs1800498, DRD2 Ex8 rs6276, DRD2Tag1B rs1079597 and ANKK1 Tag1A rs180049. The research group included 258 male athletes (mean age = 26.02, SD = 8.30), whereas the control group was 284 healthy male volunteers matched for age (mean age = 22.89, SD = 4.78), both of Caucasian origin and without history of substance dependency or psychosis. Genomic DNA was extracted from venous blood using standard procedures. Genotyping was conducted with the real-time PCR method. Differences in the frequency of the DRD2Tag1B rs1079597 gene polymorphism were found between people practicing combat sports and the control group, and the DRD2 PROM. rs1799732, DRD2 rs1076560, DRD2 Tag1D rs1800498, DRD2 Ex8 rs6276, DRD2Tag1B rs1079597 and ANKK1 Tag1A rs1800497 genotypes and allele frequencies in the studied sample did not differ between the analyzed groups. Hence, we considered these polymorphic places as an interesting area for the further search for unambiguous associations between personality traits and attitude towards physical effort.

This study aimed to investigate the

Numerous genetic factors have been shown to influence athletic performance, but the list is far from comprehensive. In this study, we analyzed genetic variants in two genes related to mental abilities, SLC6A2 (rs1805065) and SYNE1 (rs2635438) in a group of 890 athletes (320 endurance, 265 power, and 305 combat athletes) vs. 1009 sedentary controls. Genotyping of selected SNPs was performed using TaqMan SNP genotyping assays. SLC6A2 codes for norepinephrine transporter, a protein involved in modulating mood, arousal, memory, learning, and pain perception, while SYNE1 encodes protein important for the maintenance of the cerebellum—the part of the brain that coordinates complex body movements. Both SNPs (rs2635438 and rs1805065) showed no statistically significant differences between the frequencies of variants in the athletes and the sedentary controls (athletes vs. control group) or in the athlete subgroups (martial vs. control, endurance vs. control, and power vs. control). The rs1805065 T variant of SLC6A2 was found to be overrepresented in male high-elite martial sports athletes when compared to sedentary controls (OR = 6.56, 95%CI = 1.82–23.59, p = 0.010). This supports the hypothesis that genetic variants potentially affecting brain functioning can influence elite athletic performance and indicate the need for further genetic association studies, as well as functional analyses.

Muscle strength and maximal speed are factors determining athlete’s results during competition. Their association with ACTN3 gene activity has been documented. The purpose of this study was the analysis of ACTN3 gene expression during a 2 month training cycle of soccer players and its correlation with the countermovement jump (CMJ) and squat jump (SJ). The study group consisted of 22 soccer players (aged 17‐18). The study material included peripheral blood lymphocytes. The relative expression (RQ) of the ACTN3 gene was analyzed by qPCR and performed before and after the two‐month training cycle. Before the training cycle low expression levels of ACTN3 (median RQ = 0.95) were observed, yet after the training cycle they were elevated (median RQ = 1.98) ( p = 0.003). There was an increase in performance of both jumps: SJ (p = 0.020) and CMJ (p = 0.012) at the end of the training cycle. A simultaneous increase in the ACTN3 gene expression level and height in both jump tests was observed in 73% of athletes (p > 0.05). There were no significant relationships between the ACTN3 gene expression level and the results of the CMJ and SJ. However, explosive strength is a complex feature shaped by many different factors and it could be the reason why we did not observe correlations between these variables.

Athletic performance is a multifactorial phenotype influenced by environmental factors as well as multiple genetic variants. Different genetic elements have a great influence over components of athletic performance such as endurance, strength, power, flexibility, neuromuscular coordination, psychological traits and other features important in sport. The current literature review revealed that to date more than 69 genetic markers have been associated with power athlete status. For the purpose of the present review we have assigned all genetic markers described with reference to power athletes status to seven main groups: 1) markers associated with skeletal muscle structure and function, 2) markers involved in the inflammatory and repair reactions in skeletal muscle during and after exercise, 3) markers involved in blood pressure control, 4) markers involved in modulation of oxygen uptake, 5) markers that are regulators of energy metabolism and cellular homeostasis, 6) markers encoding factors that control gene expression by rearrangement of chromatin fibers and mRNA stability, and 7) markers modulating cellular signaling pathways. All data presented in the current review provide evidence to support the notion that human physical performance may be influenced by genetic profiles, especially in power sports. The current studies still represent only the first steps towards a better understanding of the genetic factors that influence power-related traits, so further analyses are necessary before implementation of research findings into practice.

Promoter polymorphism of the tumor necrosis factor-α (TNF-α) gene is associated with obesity-related traits, although the role of its potential modifying effect on changes in obesity-related parameters achieved through a training program is still unknown. The aim of the present study was to examine whether the TNF-α-308G/A polymorphism (rs1800629) influences the effects of a training program. Accordingly, we studied the alleles and genotypes distribution in a group of 168 Polish Caucasian women measured for selected body mass and composition, as well as biochemical parameters before and after the realization of a 12-week aerobic training program. Our results showed that TNF-α genotypes can modulate training-induced biochemical parameter changes such as lipid profile. We demonstrated that carriers of the GG genotype are associated with decreases in post-training high-density lipoprotein cholesterol (HDL-C) levels (p

In all sport disciplines, excellent coordination of movements is crucial for achieving mastery. The ability to learn new motor skills quickly and effectively is dependent on efficient myelination which varies between individuals. It has been suggested that these differences may play a role in athletic performance. The process of myelination is under transcriptional control by Myelin Regulatory Factor (MYRF) as well as other transcription factors (SOX10 and OLIG2). We analyze a panel of 28 single nucleotide polymorphisms (SNPs) located within the frequencies of common variants of MYRF, SOX10 and OLIG2 genes in professional athletes compared to non-athletes. No significant differences were detected after correction for multiple testing by false discovery rate (FDR) for any of the models tested. However, some deviations from the expected distribution was found for seven SNPs (rs174528, rs139884, rs149435516 and rs2238001, rs7943728, rs61747222, and rs198459). The MYRF alleles rs7943728 and rs61747222 showed a correlation with the level of sport achievement among the athletes. Even though the athletes did not differ from the non-athlete controls in the distribution of most SNPs analyzed, some interesting differences of several variants were noted. Presented results indicate that genetic variants of MYRF and SOX10 could be genetic factors weakly predisposing for successful athletic performance.

Background High-fat diet (HFD)-induced obesity causes immune cells to infiltrate adipose tissue, leading to chronic inflammation and metabolic syndrome. Brown adipose tissue (BAT) can dissipate the energy produced by lipid oxidation as heat, thereby counteracting obesity. Aerobic exercise activates BAT, but the specific underlying mechanism is still unclear. Methods Male C57BL/6 J mice were divided into a normal diet control group (NC group) and HFD group (H group). After becoming obese, the animals in the H group were subdivided into a control group (HC group) and an exercise group (HE group, with treadmill training). After 4 weeks, the mRNA profile of BAT was determined, and then differentially expressed key genes and pathways were verified in vitro. Results Relative to the NC group, the genes upregulated in the HC group coded mainly for proteins involved in immune system progression and inflammatory and immune responses, while the downregulated genes regulated lipid metabolism and oxidation–reduction. Relative to the HC group, the genes upregulated in the HE group coded for glycolipid metabolism, while those that were downregulated were involved in cell death and apoptosis. VEGF and other signaling pathways were enhanced by aerobic exercise. Interaction analysis revealed that the gene encoding cyclooxygenase 2 (COX2) of the VEGF signaling pathway is central to this process, which was verified by a sympathetic activator (isoprenaline hydrochloride) and COX2 inhibitor (NS-398). Conclusions In mice with HFD-induced obesity, four weeks of aerobic exercise elevated BAT mass and increased the expression of genes related to glycolipid metabolism and anti-inflammatory processes. Several pathways are involved, with COX2 in the VEGF signaling pathway playing a key role.

Athletes who retire from their sporting career face an increase in body weight, leading to overweight or obesity. Simultaneously, a significant number of these athletes meet the criteria of metabolic syndrome. The available literature does not offer clearly defined standards of nutrition for the discussed group of people. In this situation, it seems advisable to develop different standards of dietary behavior typical of athletes finishing their sports careers. For this purpose, the study analyzed two types of diets: the Mediterranean diet and the Calorie Restriction with Optimal Nutrition (CRON) diet based on significant calorie restrictions. Both diets seem to meet the requirements of this group of people.

Personality traits and temperament may affect sports performance. Previous studies suggest that dopamine may play an important role in behavior regulation and physical exercise performance. The aim of this study is to determine associations between dopamine D4 receptor gene (DRD4 Ex3) polymorphisms and personality traits (such as neuroticism, extraversion, openness, agreeability and conscientiousness) in elite combat athletes. A total of 302 physically active, unrelated, self-reported Caucasian participants were recruited for this study. The participants consisted of 200 elite male combat athletes and 102 healthy male participants (control group). For personality trait measurements, the NEO Five-Factor Personality Inventory (NEO-FFI) and the State-Trait Anxiety Inventory questionnaires were used. For the genetic assays, blood was collected and all samples were genotyped using the real-time PCR method. A 2 x 3 factorial ANOVA revealed statistically significant differences on the Openness NEO Five Factor Inventory scale for both examined factors, i.e. sport status and genetics DTD4 Ex3. Combat athletes achieved higher scores on the Conscientiousness NEO-FFI scale when compared to controls (7.18 vs 5.98). On the other hand, combat athletes scored lower on the Openness scale in comparison with control group (4.42 vs. 4.63). Subjects with the DRD4 Ex3 s/s genotype had lower results on the openness scale in comparison with participants with the DRD4 Ex3 s/1 genotype (4.01 vs. 4.57) and higher DRD4 Ex3 1/1 genotype (4,01 vs. 3,50). In conclusion, we found an association between the dopamine D4 receptor gene in variable number tandem repeat (VNTR) polymorphisms and athletic status for two NEO-FFI factors: Openness and Conscientiousness. The DRD4 exon 3 polymorphism may be associated with the selected personality traits in combat athletes, thereby modulating athletes’ predisposition to participate in high risk sports.

Background: Sequence variants within the matrix metalloproteinases genes remain plausible biological candidates for further investigation of anterior cruciate ligament (ACL) rupture risk. The aim of the present study was to establish whether variants within the MMP1 (rs1799750, -&gt, G), MMP10 (rs486055, C &gt, T) and MMP12 (rs2276109, T &gt, C) genes were associated with non-contact ACL rupture in a Polish cohort. Methods: The unrelated, self-reported Polish Caucasian participants consisted of 228 (157 male) individuals with primary non-contact ACL rupture and 202 (117 male) participants without any history of ACL rupture. All samples were genotyped in duplicate using the Applied Biosystems TaqMan&reg, methodology. The statistical analyses were involved in determining the distribution of genotype and allele frequencies for the investigated polymorphisms between the diagnostic groups. Furthermore, pseudo-haplotypes were constructed to assess possible gene&ndash, gene interactions. Results: All genotype frequencies in the ACL rupture and control groups conformed to Hardy Weinberg Equilibrium expectations. None of the polymorphisms were associated with risk of non-contact ACL rupture under the codominant, dominant, recessive and over-dominant genetic models. Likewise, no genotype&ndash, genotype combinations inferred as &ldquo, haplotypes&rdquo, as a proxy of gene&ndash, gene interactions were associated with the risk of non-contact ACL ruptures. Conclusions: Despite the fact that the current study did not support existing evidence suggesting that variants within the MMP1, MMP10, and MMP12 genes influence non-contact ACL rupture risk, future work should include high-throughput sequencing technologies to identify potential targeted polymorphisms to fully characterize the 11q22 region with susceptibility to non-contact ACL rupture susceptibility in a Polish cohort

The aim of this study is to analyse associations between functional polymorphisms in the COMT and OPRM1 genes and temperamental traits in athletes. The study involved 364 healthy men, aged 18 to 43 years. 199 combat athletes participated in the experimental group. The control group consisted of 165 healthy men. All subjects were genotyped for common variants of the COMT and OPRM1 genes, and were included in a case-control study. Temperament was measured with the Formal Characteristics of Behaviour – Temperament Inventory (FCB-TI). The scores for temperament traits obtained by the athletes were lower with regard to perseveration and emotional reactivity, and higher with regard to endurance, when compared to the control group. When analysing the OPRM1 rs1799971 genotype in relation to temperamental traits, athletes carrying at least one minor G allele were characterized by higher sensitivity when compared with AA wild-type homozygotes. However, such an association was not observed in the controls. In the case of the COMT rs4680 variant studied, among the athletes, homozygous GG subjects were characterized by lower sensitivity, compared to the A allele carriers. On the other hand, AA homozygotes presented lower endurance than G allele carriers.

Leońska-Duniec, A, Jastrzębski, Z, Jażdżewska, A, Krzysztof, F, and Cięszczyk, P. Leptin and leptin receptor genes are associated with obesity-related traits changes in response to aerobic training program. J Strength Cond Res 32(4): 1036-1044, 2018-Leptin (LEP) and leptin receptor (LEPR) genes have been studied for their potential association with development of human obesity and its related complications. Therefore, we have decided to check whether selected body mass, body composition, and metabolic variables observed in physically active participants will be modulated by the polymorphisms. The genotype distribution was examined in a group of 201 women measured for chosen traits before and after the completion of a 12-week aerobic training program. Our results revealed a significant interaction between training and LEP genotype for glucose level. A training-related decrease in plasma glucose concentration in the LEP AG heterozygotes differed significantly from the change in the homozygotes. The polymorphism was also associated with fat-free mass (FFM), total body water (TBW), total cholesterol, triglycerides, and low-density lipoprotein cholesterol (LDL-C) levels. Another finding was a significant interaction between training and LEPR for LDL-C level. As opposed to AG and GG, AA homozygotes demonstrated a training-related decrease in LDL-C level. Our findings also showed that the LEPR G allele is connected with obesity-related traits. The participants with the GG genotype had higher body mass, body mass index (BMI), FFM, and TBW during the entire study period. This study provides evidence that polymorphisms in the LEP and LEPR genes are associated with the magnitude of the effects of regular physical activity on glucose and LDL-C levels, respectively. In addition, we found the association of the G allele of the LEPR polymorphism with body mass and BMI.

We aimed to replicate, in a specific athletic event cohort (only track and field) and in two different ethnicities (Japanese and East European, i.e. Russian and Polish), original findings showing the association of the angiotensin-II receptor type-2 gene (AGTR2) rs11091046 A>C polymorphism with athlete status. We compared genotypic frequencies of the AGTR2 rs11091046 polymorphism among 282 track and field sprint/power athletes (200 men and 82 women), including several national record holders and Olympic medallists (214 Japanese, 68 Russian and Polish), and 2024 control subjects (842 men and 1182 women) (804 Japanese, 1220 Russian and Polish). In men, a meta-analysis from the two combined cohorts showed a significantly higher frequency of the C allele in athletes than in controls (odds ratio: 1.62, P=0.008, heterogeneity index I 2 =0%). With regard to respective cohorts, C allele frequency was higher in Japanese male athletes than in controls (67.7% vs. 55.9%, P=0.022), but not in Russian/Polish male athletes (61.9% vs. 51.0%, P=0.172). In women, no significant results were obtained by meta-analysis for the two cohorts combination (P=0.850). The AC genotype frequency was significantly higher in Russian/Polish women athletes than in controls (69.2% vs. 42.1%, P=0.022), but not in Japanese women athletes (P=0.226). Our results, in contrast to previous findings, suggested by meta-analysis that the C allele of the AGTR2 rs11091046 polymorphism is associated with sprint/power track and field athlete status in men, but not in women. Sin financiación 2.202 JCR (2018) Q2, 33/83 Sport Sciences 0.941 SJR (2018) Q1, 64/301 Orthopedics and Sports Medicine No data IDR 2018 UEM

The aim of this study was to characterise the temperament of combat athletes in comparison to that of individuals who do not practise any sports with regard to pain sensitivity measured with the cold pressor test (CPT) and pressure pain threshold (PPT). The study involved 284 healthy men, aged 18 to 43years. The first group consisted of 198 combat athletes, including boxing (n=19), mixed martial arts (MMA) (n=97) and karate (n=82), aged from 18 to 43years. The control group consisted of 86 subjects between the ages of 18 and 26years, academic students not practising any sport professionally. Pain threshold and pain tolerance were evaluated using the CPT and a pressure algometer. Temperament was measured with the Formal Characteristics of Behaviour - Temperament Inventory (FCB-TI). The contact athletes showed much higher tolerance to pain than the control group using both tools: CPT (p=0.007) and PPT (p

In athletes, pain has diverse functions and a complex etiology. Its role is not limited to indicating the limits of the body, especially in areas that are exposed to maximal forces and stresses and consequently vulnerable to damage or injury. Several common single nucleotide polymorphisms (SNPs) have been recently associated with inter individual differences in pain perception. Among several other markers, catechol-O-methyltransferase ( COMT rs4680:G>A ) and the μ-opioid receptor ( OPRM1 rs1799971:A >G ) were proposed as key factors for pain perception. The aim of the current study was to investigate the potential association between COMT and OPRM1 genotypes and pain perception as well as the relation with elite athlete status. The study involved 395 healthy men, aged 18 to 28 years; 214 combat sports athletes comprised the experimental group and 181 non-athletes comprised the control group. DNA was extracted from buccal cells donated by the subjects, and genotyping for COMT rs4680 and OPRM1 rs1799971 was carried out using real-time PCR. Measurement of the pain threshold and pain tolerance was performed using an algometer and the cold pressor test. The genotype distribution of COMT and OPRM1 polymorphisms did not differ between combat athletes and the control group (p=0.500 and p=0.390). Pain threshold and pain tolerance as both quantitative and qualitative measures did not differ with respect to OPRM1 and COMT polymorphism in either the combat or the control group for any of the analysed genetic models.

The C/T polymorphism (rs17782313) mapped 188 kb downstream of the melanocortin-4 receptor gene (MC4R) shows a strong relationship with an increased body mass index (BMI) and the risk of type 2 diabetes. However, the information on polymorphism’s potential modifying effect on obesity- and metabolic-related traits achieved through training is still unknown. Therefore, we decided to check if selected body measurements observed in physically active participants would be modulated by the genotype. The genotype distribution was examined in a group of 201 Polish women measured for chosen traits before and after the completion of a 12 week moderate-intensive aerobic training program. A statistically significant relationship between the glucose level and the genotype was identified (p = 0.046). Participants with CC and CT genotypes had a higher glucose level during the entire study period compared with the TT genotype. However, our results did not confirm the relationship between the C allele and an increased BMI or other obesity-related traits. Additionally, we did not observe a near MC4R C/T polymorphism x physical activity interaction. However, our results revealed that majority of obesity-related variables changed significantly during the 12 week training program. The effect sizes (d) of these changes ranged from small to medium (d = 0.11-0.80), whereas the largest effect (d = 0.80; i.e. medium) was reported for the fat mass content (FM). We found a relationship between the near MC4R C/T polymorphism and an increased glucose level, and it is thus a candidate to influence type 2 diabetes. Interestingly, after the 12 week training program, participants with the C (risk) allele with fasting hyperglycemia had a normal glucose level. Although, this change was not statistically significant, it shows an important trend which needs further investigation.

The aim of this study was to determine whether the contact sports change the perception of pain as assessed by the cold pressor test (CPT), and if the test induces the same reaction of the cardiovascular system in contact athletes and non-athletes. The study involved 321 healthy men; 140 contact athletes and 181 students of the University of Szczecin (control). Pain threshold and pain tolerance were evaluated using CPT. Cardiovascular measurements were made during CPT. The contact athletes showed a much higher tolerance to pain than the control group (median time 120 vs. 94 s, respectively, p = 0.0002). The thresholds of pain in both groups did not differ significantly between the groups. Systolic blood pressure measured before and during the test in all three measurements was statistically significantly higher in athletes compared with the control group. Heart rate and diastolic blood pressure did not differ significantly between the studied groups.

The GSTP1 gene encodes glutathione S-transferase P1, which is a member of the glutathione S-transferases (GSTs), a family of enzymes playing an important role in detoxification and in the antioxidant defense system. There is some evidence indicating that GSTP1 c.313A>G polymorphism may be beneficial for exercise performance. Therefore, we decided to verify the association between the frequency of GSTP1 c.313A>G variants, physical performance, and athletes' status in two cohorts: in a group of Russian athletes ( n = 507) and in an independent population of Polish athletes ( n = 510) in a replication study. The initial association study conducted with the Russian athletes revealed that the frequency of the minor G allele was significantly higher in all athletes than in controls; that was confirmed in the replication study of Polish athletes. In the combined cohort, the differences between athletes ( n = 1017) and controls ( n = 1246) were even more pronounced (32.7 vs 25.0%, P < 0.0001). Our findings emphasize that the G allele of the GSTP1 gene c.313A>G single nucleotide polymorphism is associated with improved endurance performance. These observations could support the hypothesis that the GSTP1 G allele may improve exercise performance by better elimination of exercise-induced ROS.

Proteoglycans are considered integral structural components of tendon and ligament and have been implicated in the resistance of compressive forces, collagen fibrillogenesis, matrix remodelling and cell signalling. Several sequence variants within genes encoding proteoglycans were recently implicated in modulating anterior cruciate ligament ruptures (ACLR). This study aimed to test the previously implicated variants in proteoglycan and vascular epithelial growth factor encoding genes with risk of ACLR in a population from Poland. A case control genetic association study was conducted using DNA samples from 143 healthy participants without a history of ACL injuries (99 male and 44 females) (CON group) and 229 surgically diagnosed ACLR participants (158 males and 71 females). All samples were genotyped for the ACAN: rs1516797, BGN: rs1042103, rs1126499, DCN: rs516115 and VEGFA: rs699947 variants. Main findings included the (i) ACAN rs1516797 G/T genotype which was underrepresented in the CON group (CON: 36%, n=52, ACLR: 49%, n=112, p=0.017, OR=1.68, 95% CI 1.09 to 2.57) when all participants were investigated and (ii) the BGN rs1042103 A allele was significantly under-represented in the male CON group compared to the male ACLR group (CON: 39%, n=78, ACLR: 49%, n=156, p=0.029, OR=1.5, 95% CI 1.05 to 2.15). Furthermore, BGN inferred haplotypes were highlighted with altered ACLR susceptibility. Although the study implicated the ACAN and BGN genes (combination of genotype, allele and haplotype) in modulating ACLR susceptibility, several differences were noted with previous published findings.

Grishina, EE, Zmijewski, P, Semenova, EA, Cieszczyk, P, Huminska-Lisowska, K, Michalowska-Sawczyn, M, Maculewicz, E, Crewther, B, Orysiak, J, Kostryukova, ES, Kulemin, NA, Borisov, OV, Khabibova, SA, Larin, AK, Pavlenko, AV, Lyubaeva, EV, Popov, DV, Lysenko, EA, Vepkhvadze, TF, Lednev, EM, Bondareva, EA, Erskine, RM, Generozov, EV, and Ahmetov, II. Three DNA polymorphisms previously identified as markers for handgrip strength are associated with strength in weightlifters and muscle fiber hypertrophy. J Strength Cond Res 33(10): 2602-2607, 2019-Muscle strength is a highly heritable trait. So far, 196 single nucleotide polymorphisms (SNPs) associated with handgrip strength have been identified in 3 genome-wide association studies. The aim of our study was to validate the association of 35 SNPs with strength of elite Russian weightlifters and replicate the study in Polish weightlifters. Genotyping was performed using micro-array analysis or real-time polymerase chain reaction. We found that the rs12055409 G-allele near the MLN gene (p = 0.004), the rs4626333 G-allele near the ZNF608 gene (p = 0.0338), and the rs2273555 A-allele in the GBF1 gene (p = 0.0099) were associated with greater competition results (total lifts in snatch and clean and jerk adjusted for sex and weight) in 53 elite Russian weightlifters. In the replication study of 76 sub-elite Polish weightlifters, rs4626333 GG homozygotes demonstrated greater competition results (p = 0.0155) and relative muscle mass (p = 0.046), adjusted for sex, weight, and age, compared with carriers of the A-allele. In the following studies, we tested the hypotheses that these SNPs would be associated with skeletal muscle hypertrophy and handgrip strength. We found that the number of strength-associated alleles was positively associated with fast-twitch muscle fiber cross-sectional area in the independent cohort of 20 male power athletes (p = 0.021) and with handgrip strength in 87 physically active individuals (p = 0.015). In conclusion, by replicating previous findings in 4 independent studies, we demonstrate that the rs12055409 G-, rs4626333 G-, and rs2273555 A-alleles are associated with higher levels of strength, muscle mass, and muscle fiber size.

Pickering, C, Suraci, B, Semenova, EA, Boulygina, EA, Kostryukova, ES, Kulemin, NA, Borisov, OV, Khabibova, SA, Larin, AK, Pavlenko, AV, Lyubaeva, EV, Popov, DV, Lysenko, EA, Vepkhvadze, TF, Lednev, EM, Leońska-Duniec, A, Pająk, B, Chycki, J, Moska, W, Lulińska-Kuklik, E, Dornowski, M, Maszczyk, A, Bradley, B, Kana-ah, A, Cięszczyk, P, Generozov, EV, and Ahmetov, II. A genome-wide association study of sprint performance in elite youth football players. J Strength Cond Res XX(X): 000-000, 2019-Sprint speed is an important component of football performance, with teams often placing a high value on sprint and acceleration ability. The aim of this study was to undertake the first genome-wide association study to identify genetic variants associated with sprint test performance in elite youth football players and to further validate the obtained results in additional studies. Using micro-array data (600 K-1.14 M single nucleotide polymorphisms [SNPs]) of 1,206 subjects, we identified 12 SNPs with suggestive significance after passing replication criteria. The polymorphism rs55743914 located in the PTPRK gene was found as the most significant for 5-m sprint test (p = 7.7 × 10). Seven of the discovered SNPs were also associated with sprint test performance in a cohort of 126 Polish women, and 4 were associated with power athlete status in a cohort of 399 elite Russian athletes. Six SNPs were associated with muscle fiber type in a cohort of 96 Russian subjects. We also examined genotype distributions and possible associations for 16 SNPs previously linked with sprint performance. Four SNPs (AGT rs699, HSD17B14 rs7247312, IGF2 rs680, and IL6 rs1800795) were associated with sprint test performance in this cohort. In addition, the G alleles of 2 SNPs in ADRB2 (rs1042713 & rs1042714) were significantly over-represented in these players compared with British and European controls. These results suggest that there is a genetic influence on sprint test performance in footballers, and identifies some of the genetic variants that help explain this influence.

MicroRNAs are small non-coding regulatory RNAs which may be released into the systemic circulation as a consequence of the body's adaptation to exercise. The expression profile of circulating miRNAs (ci-miRNAs) has been proposed as a potential diagnostic biomarker for adaptive responses of particular systems to physical exertion. Several miRNAs are recognized as regulators of signalling pathways such as the IGF1/PI3K/AKT/mTOR axis, relevant to exercise adaptation. MicroRNA levels may fluctuate depending on training type/exercise regimen in correlation with phenotypic features such as VO2 max. Muscle-specific miRNAs have been proposed as regulators of skeletal muscle/myocardial interactions during physical exertion, thereby facilitating adaptation. Differential expression of miRNAs may relate to molecular patterns of communication triggered during/after exercise as response, recovery and adaptation mechanisms to training load. This review highlights recent findings and the potential significance of specific miRNAs in the process of exercise adaptation. Altered ci-miRNA profiles following exercise suggest that they may be useful biomarkers of health and adaptation to intervention strategies. Identification of the concert of miRNA expression signatures together with their targets is critical towards understanding gene regulation in this context. Understanding how the external environment influences gene expression via miRNAs will provide insight into potential therapeutic target strategies for disease.

Genetic factors have a great influence over phenotype components such as strength, speed, muscle mass, neuromuscular adaptations, and others which are crucial for power-oriented (sprinters, strength, and speed-strength) athletes. For example, the heritability of muscle strength has been shown to range from approximately 30% to 80% in various phenotypes such as isometric knee strength, handgrip strength, and elbow flexion. The molecular studies based on the candidate gene and whole-genome approaches have highlighted a number of potentially important DNA polymorphisms contributing to predisposition to become a successful athlete in sports with speed/strength component. This chapter will briefly describe 69 genetic markers which were reported so far to be associated with power athlete status. Of those, only 14 markers (locate in ACE, ACTN3, AGT, AGTR2, AMPD1, CKM, HIF1A, IL6, MTHFR, NOS3, PPARA, PPARG, SOD2, TRHR genes) have shown positive associations with power athlete status in two or more independent studies. The current studies still represent only the first steps toward a better understanding of the genetic factors that influence power-related traits, so further research is necessary before implementation of research findings into practice.

The objective of the study was to determine the order of muscle recruitment during the active hip joint extension in particular positions in young visually impaired athletes. The average recruitment time (ART) of the gluteus maximus (GM) and the hamstring muscle group (HMG) was assessed by the means of surface electromyography (sEMG). The sequence of muscle recruitment in the female and male group was also taken into consideration. This study followed a prospective, cross – sectional, randomised design, where 76 visually impaired athletes between the age of 18–25 years were enrolled into the research and selected on chosen inclusion and exclusion criteria. Finally, 64 young subjects (32 men and 32 women) were included in the study (age: 21.1 ± 1.05 years; body mass: 68.4 ± 12.4 kg; body height: 1.74 ± 0.09 m; BMI: 22.20 ± 2.25 kg/m2). All subjects were analysed for the ART of the GM and HMG during the active hip extension performed in two different positions, as well as resting and functional sEMG activity of each muscle. Between gender differences were comprised and the correlations between the ART of the GM and HMG with their functional sEMG activity during hip extension in both positions were shown. No significant differences between the ART of the GM and HMG were found (p>0.05). Furthermore, there was no significant difference of ART among both tested positions, as well in male as female subjects (p>0.05).

In this study, we performed an analysis of the impact of performance enhancing polymorphisms (PEPs) on gymnastic aptitude while considering epistatic effects. Seven PEPs (rs1815739, rs8192678, rs4253778, rs6265, rs5443, rs1076560, rs362584) were considered in a case (gymnasts) – control (sedentary individuals) setting. The study sample comprised of two athletes’ sets: 27 elite (aged 24.8 ± 2.1 years) and 46 sub-elite (aged 19.7 ± 2.4 years) sportsmen as well as a control group of 245 sedentary individuals (aged 22.5 ± 2.1 years). The DNA was derived from saliva and PEP alleles were determined by PCR, RT-PCR. Following Multifactor Dimensionality Reduction, logistic regression models were built. The synergistic effect for rs1815739 × rs362584 reached 5.43%. The rs1815739 × rs362584 epistatic regression model exhibited a good fit to the data (Chi-squared = 33.758, p ≈ 0) achieving a significant improvement in sportsmen identification over naïve guessing. The area under the receiver operating characteristic curve was 0.715 (Z-score = 38.917, p ≈ 0). In contrast, the additive ACTN3 – SNAP-25 logistic regression model has been verified as non-significant.We demonstrate that a gene involved in the differentiation of muscle architecture – ACTN3 and a gene, which plays an important role in the nervous system – SNAP-25 interact. From the perspective originally established by the Berlin Academy of Science in 1751, the matter of communication between the brain and muscles via nerves adopts molecular manifestations. Further in-vitro investigations are required to explain the molecular details of the rs1815739 – rs362584 interaction.

**Background**\ud \ud Studies investigating associations between ACTN3 R577X and ACE I/D genotypes and endurance athletic status have been limited by small sample sizes from mixed sport disciplines and lack quantitative measures of performance. Aim: To examine the association between ACTN3 R577X and ACE I/D genotypes and best personal running times in a large homogeneous cohort of endurance runners.\ud \ud **Methods**\ud \ud We collected a total of 1064 personal best 1500, 3000, 5000 m and marathon running times of 698 male and female Caucasian endurance athletes from six countries (Australia, Greece, Italy, Poland, Russia and UK). Athletes were genotyped for ACTN3 R577X and ACE ID variants.\ud \ud **Results**\ud \ud There was no association between ACTN3 R577X or ACE I/D genotype and running performance at any distance in men or women. Mean (SD) marathon times (in s) were for men: ACTN3 RR 9149 (593), RX 9221 (582), XX 9129 (582) p = 0.94; ACE DD 9182 (665), ID 9214 (549), II 9155 (492) p = 0.85; for women: ACTN3 RR 10796 (818), RX 10667 (695), XX 10675 (553) p = 0.36; ACE DD 10604 (561), ID 10766 (740), II 10771 (708) p = 0.21. Furthermore, there were no associations between these variants and running time for any distance in a sub-analysis of athletes with personal records within 20% of world records.\ud \ud **Conclusions**\ud \ud Thus, consistent with most case-control studies, this multi-cohort quantitative analysis demonstrates it is unlikely that ACTN3 XX genotype provides an advantage in competitive endurance running performance. For ACE II genotype, some prior studies show an association but others do not. Our data indicate it is also unlikely that ACE II genotype provides an advantage in endurance running.

The aim of this study was to investigate the association between the MCT1 (monocarboxylate transporter 1) A1470T polymorphism and positional roles in a large cohort of professional football players from five different countries. We compared genotype distributions of the MCT1 A1470T polymorphism between football players (n=694) and non-athlete controls (n=781) from Italy, Poland, Lithuania, Ukraine and Malta, and we analyzed the MCT1 genotype distributions with respect to the players’ positions in the field (e. g. forwards, midfielders, defenders and goalkeepers). Genomic DNA was extracted from either buccal epithelium or peripheral blood using a standard protocol. In the pooled cohort of Italian, Polish, Lithuanian and Ukrainian football players, forwards (n=148) were more likely than controls (n=781) to possess the A allele (χ2=7.067, p=0.029, FDR q value 0.116), with a greater likelihood of having the AA genotype compared with the TT genotype (OR=1.97; C.I.=1.07-3.64; p=0.021, FDR q value 0.086). The MCT1 AA genotype was significantly more frequent in forwards then in controls. Further studies are needed to confirm these findings in other professional football player cohorts.

We hypothesized that the ACE ID / ACTN3 R577X genotype combination was associated with sprint and endurance performance. Therefore, the purpose of the present study was to determine the interaction between both ACE ID and ACTN3 R577X polymorphisms and sprint and endurance performance in swimmers. Genomic DNA was extracted from oral epithelial cells using GenElute Mammalian Genomic DNA Miniprep Kit (Sigma, Germany). All samples were genotyped using a real-time poly- merase chain reaction. The ACE I/D and the ACTN3 R577X genotype frequencies met Hardy-Weinberg expectations in both swimmers and controls. When the two swimmer groups, long distance swimmers (LDS) and short distance swimmers (SDS), were compared with control subjects in a single test, a significant association was found only for the ACE polymorphism, but not for ACTN3. Additionally, four ACE/ACTN3 combined genotypes (ID/RX, ID/XX, II/RX and II/XX) were statistically significant for the LDS versus Control comparison, but none for the SDS versus Control comparison. The ACE I/D and the ACTN3 R577X polymorphisms did not show any association with sprint swimming, taken individually or in combination. In spite of numerous previous reports of associations with athletic status or sprint performance in other sports, the ACTN3 R577X polymorphism, in contrast to ACE I/D, was not significantly associated with elite swimming status when considered individually. However, the combined analysis of the two loci suggests that the co-occurrence of the ACE I and ACTN3 X alleles may be beneficial to swimmers who compete in long distance races

Monitoring and optimizing the effectiveness of training course require wide analyses of athletes' blood parameter changes. The aim of this study was to evaluate the usefulness of biochemical liver profile to assess the metabolic response to semi-long-distance outdoor run in football players. Sixteen football players run outdoor for 60 minutes to achieve aerobic metabolism. Plasma activity of aspartate aminotransferase (AST), alanine aminotransferase (ALT), γ-glutamyltransferase (GGT) and plasma levels of total and direct bilirubin were determined in samples obtained before exercise test (pre-exercise) and immediately after the run (post-exercise). Mean AST plasma activity (U·L-1) before/after the exercise, respectively, was 78.3/228.3 in women and 76.5/56.2 in men. Mean ALT plasma activity (U·L-1) before/after the exercise, respectively, was 27.5/59.1 in women and 36.2/35.3 in men. Mean GGT plasma activity (U·L-1) before/after the exercise, respectively, was 39.3/76.6 in women and 44.7/71.2 in men. Plasma levels of total and direct bilirubin were similar before and after the run regardless of the gender. Statistical significance of the differences between results obtained pre- and post-exercise occurred in women (p = 0.0212 for AST; p = 0.0320 for ALT; p = 0.0067 for GGT, respectively). The training monitoring in athletes should be performed using measurements of performance and biological or physiological parameters. It was found that AST, ALT, and GGT activities could be a valuable tool to assess the metabolic response in high-level fitness female athletes. Therefore, monitoring of those well-known diagnostic markers could prevent the trainee from harmful overtraining.

The aim of the study was to evaluate the association between swimming performance and the -9/+9 (rs5810761) polymorphism within the BDKRB2 gene in successful competitive swimmers. Best individual swimming results expressed in FINA points achieved at short, middle and long distance events of 157 well-trained Polish swimmers were incorporated into an analysis. Athletes' genotype and allele distributions were analysed in comparison to 230 unrelated sedentary subjects who served as controls with the χ(2) test. All samples were genotyped for the BDKRB2 -9/+9 polymorphism using the polymerase chain reaction (PCR). The effects of genotype on swimming performance were analysed with two-way (3 x 2; genotype x gender) analysis of variance with metrical age as a covariate for each distance specialization. No statistical differences in the genotype and allele frequencies were found in long distance swimmers when compared with the total group of swimmers or controls. The BDKRB2 +9/-9 genotype had no significant effect on swimming performance at short, middle or long distance, regardless of gender. The results of this study do not support the hypothesis that the BDKRB2 -9/+9 polymorphism is associated with swimming performance in Polish swimmers.

Muscle fibre type is a heritable trait and can partly predict athletic success. It has been proposed that polymorphisms of genes involved in the regulation of muscle fibre characteristics may predispose the muscle precursor cells of a given individual to be predominantly fast or slow. In the present study, we examined the association between 15 candidate gene polymorphisms and muscle fibre type composition of the vastus lateralis muscle in 55 physically active, healthy men. We found that rs11091046 C allele carriers of the angiotensin II type 2 receptor gene (AGTR2; involved in skeletal muscle development, metabolism and circulatory homeostasis) had a significantly higher percentage of slow-twitch fibres than A allele carriers [54.2 (11.1) versus 45.2 (10.2)%; P = 0.003]. These data indicate that 15.2% of the variation in muscle fibre composition of the vastus lateralis muscle can be explained by the AGTR2 genotype. Next, we investigated the frequencies of the AGTR2 alleles in 2178 Caucasian athletes and 1220 control subjects. The frequency of the AGTR2 C allele was significantly higher in male and female endurance athletes compared with power athletes (males, 62.7 versus 51.7%, P = 0.0038; females, 56.6 versus 48.1%, P = 0.0169) and control subjects (males, 62.7 versus 51.0%, P = 0.0006; elite female athletes, 65.1 versus 55.2%, P = 0.0488). Furthermore, the frequency of the AGTR2 A allele was significantly over-represented in female power athletes (51.9%) in comparison to control subjects (44.8%, P = 0.0069). We also found that relative maximal oxygen consumption was significantly greater in male endurance athletes with the AGTR2 C allele compared with AGTR2 A allele carriers [n = 28; 62.3 (4.4) versus 57.4 (6.0) ml min(-1) kg(-1); P = 0.0197]. Taken together, these results demonstrate that the AGTR2 gene C allele is associated with an increased proportion of slow-twitch muscle fibres, endurance athlete status and aerobic performance, while the A allele is associated with a higher percentage of fast-twitch fibres and power-oriented disciplines.

Exercise-induced oxidative stress is a state that primarily occurs in athletes involved in high-intensity sports when pro-oxidants overwhelm the antioxidant defense system to oxidize proteins, lipids, and nucleic acids. During exercise, oxidative stress is linked to muscle metabolism and muscle damage, because exercise increases free radical production. The T allele of the Ala16Val (rs4880 C/T) polymorphism in the mitochondrial superoxide dismutase 2 (SOD2) gene has been reported to reduce SOD2 efficiency against oxidative stress. In the present study we tested the hypothesis that the SOD2 TT genotype would be underrepresented in elite athletes involved in high-intensity sports and associated with increased values of muscle and liver damage biomarkers. The study involved 2664 Caucasian (2262 Russian and 402 Polish) athletes. SOD2 genotype and allele frequencies were compared to 917 controls. Muscle and liver damage markers [creatine kinase (CK), creatinine, alanine transaminase (ALT), aspartate transaminase (AST), alkaline phosphatase (ALP)] were examined in serum from 1444 Russian athletes. The frequency of the SOD2 TT genotype (18.6%) was significantly lower in power/strength athletes (n = 524) compared to controls (25.0%, p = 0.0076) or athletes involved in low-intensity sports (n = 180; 33.9%, p < 0.0001). Furthermore, the SOD2 T allele was significantly associated with increased activity of CK (females: p = 0.0144) and creatinine level (females: p = 0.0276; males: p = 0.0135) in athletes. Our data show that the SOD2 TT genotype might be unfavorable for high-intensity athletic events. © 2014 Informa UK, Ltd.

The NOS3 gene has been associated with athletic endurance performance and elite power athletic status. With respect to NOS3 G894T and its relation to athletic performance or status, results across various studies have not been consistent. Therefore, the lack of consistency among previous studies prompted us to design a case-control study in a Polish Caucasian population to examine the relationship between the NOS3 G894T polymorphism and athletes' status, i.e. type and intensity of exercise performed (poweroriented, “mixed” power/endurance activity, endurance-oriented) and the possible association between the G894T variant and athletic performance. The case-control study was performed in a group of 360 Polish athletes (cases) of the highest nationally competitive standard (male n=156 and female n=67) and 191 unrelated, sedentary control subjects. The G894T genotype and allele distributions differed significantly between power-oriented (P=0.009, P=0.003), “mixed” (P=0.021, P=0.009), endurance (P=0.043, P=0.014) athletes when compared to control subjects (P values for genotypes and alleles, respectively). There were no significant differences between elite and sub-elite athletes in any group. The over-representation of the GG genotype and G allele in all athletes suggests that the G894 allele may favour all types of sports, however, the strongest predisposition was seen among power-oriented athletes.

Objectives To determine the association between the α-actinin-3 (ACTN3) R577X polymorphism and elite team-sport athletic status in three cohorts of European team-sport athletes. Design We compared the genotype and allele frequencies of the ACTN3 R577X (rs1815739) polymorphisms between team-sport athletes (n = 205), endurance athletes (n = 305), sprint/power athletes (n = 378), and non-athletic controls (n = 568) from Poland, Russia and Spain; all participants were unrelated European men. Methods Genomic DNA was extracted from either buccal epithelium or peripheral blood using a standard protocol. Genotyping was performed using several methods, and the results were replicated following recent recommendations for genotype–phenotype association studies. Results Genotype distributions of all control and athletic groups met Hardy–Weinberg equilibrium (all p > 0.05). Team-sport athletes were less likely to have the 577RR genotype compared to the 577XX genotype than sprint/power athletes [odds ratio: 0.58, 95% confidence interval: 0.34–0.39, p = 0.045]. However, the ACTN3 R577X polymorphism was not associated with team-sports athletic status, compared to endurance athletes and non-athletic controls. Furthermore, no association was observed for any of the genotypes with respect to the level of competition (elite vs. national level). Conclusions The ACTN3 R577X polymorphism was not associated with team-sport athletic status, compared to endurance athletes and non-athletic controls, and the observation that the 577RR genotype is overrepresented in power/sprint athletes compared with team-sport athletes needs to be confirmed in future studies.

Summary Objectives ACE gene that codes for angiotensin converting enzyme (ACE) is characterised by the presence (insertion, I allele) or the absence (deletion, D allele) of a 287-bp fragment. The longer I allele initiates lower enzyme activity, and is associated with enhanced endurance performance. The shorter variant (D allele) is associated with higher ACE activity and increased angiotensin II levels; thus, this allele would theoretically favour performance in power or strength-oriented exercise tasks. We decided to test the hypothesis that the D allele might represent a genetic element that benefits power performance in elite Polish athletes. Equipments and methods The ACE genotypes were established using PCR amplification for 100 Polish power athletes of the highest nationally competitive standard and 354 sedentary volunteers. Results The genotype distribution amongst the whole cohort of athletes (13.0% II, 48.0% ID, 39.0% DD) was significantly different from that amongst controls (20.9% II, 51.7% ID, 27.4% DD; P = 0.043); a significant excess of the D allele being noted in the power athlete group (63.0% versus 53.2%, P = 0.014). The lowest frequencies of the D allele were observed in ‘sub-elite’ athletes (53.3%), while in ‘elite’ and ‘top-elite’ athletes an increasing trend of D allele frequency was found (68.1% and 77.8%, respectively) that remained statistical significant when compared to controls (P = 0.016 and P = 0.004, respectively). Our study demonstrates a significant positive association between top-level Polish power athletes and the ACE D allele, distinguishing it as one of the genetic factors that contribute to the establishment of a strength phenotype.