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Background: Literature reports indicate changes in the expression of genes encoding proinflammatory factors are observed as a result of physical exercise. The stress changes caused by high-intensity loads and adaptive changes induced by the planned long-term training are less studied. The aim of this study was to determine the impact of intense anaerobic effort in people adapted to regular trainings and in non-trained persons on the expression levels of the TNFA gene. Material and methods: 50 experienced soccer players and 50 non-trained participants were recruited for the study. Anaerobic capacity was measured by means of the Wingate Anaerobic Test. To evaluate the expression of TNFA gene, a QRT-PCR was applied. Results: A comparison of the TNFA expression profiles between well-trained athletes and non-trained controls revealed that transcript levels were higher in non-trained participants when compared with soccer players in all the studied time points, with the exception of the second post-test; however, this difference was the only one that was statistically insignificant. Conclusions: The TNFA mRNA expression characteristic described in our study indicated a significant downregulation of the TNFA expression observed in the course of time in experienced athletes reflecting molecular adaptation to physical effort caused by long-term training regime. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

Collagen alpha-1(V) chain, encoded by the COL5A1 gene, plays a crucial role in abundant fibrillar collagens supporting many tissues in the body containing type I collagen and appears to regulate the association between heterotypic fibers composed of both type I and type V collagen occurring among others in muscles, tendons and ligaments. Taking this fact into consideration we decided to examine the association between COL5A1 rs12722 and rs13946 polymorphisms, individually and as inferred haplotypes, with anterior cruciate ligament rupture risk (ACLR) in professional soccer players. A total of 134 male professional soccer players with surgically diagnosed primary anterior cruciate ligament ruptures and 211 apparently healthy male professional soccer players, who were without any self-reported history of ligament or tendon injury, were included in the study. Both the cases and the healthy controls were recruited from the same soccer teams, of a similar age category, and had a comparable level of exposure to anterior cruciate ligament injury. Genomic DNA was extracted from oral epithelial cells using GenElute Mammalian Genomic DNA MiniprepKit. All samples were genotyped for the rs12722 and rs13946 polymorphisms using a Rotor-Gene realtime polymerase chain reaction. Statistically significant differences in the genotype frequencies for the COL5A1 rs13946 polymorphisms in dominant modes of inheritance occurred (p = 0.039). Statistically significant differences were documented only in the dominant model under the representation tendency of the C-C haplotype in the ACLR group compared to controls (p = 0.038). Our results suggest that variation in the COL5A1 gene may be one of the non-modifiable factors associated with the ACL injury in professional soccer players. The C-C rs12722-rs13946 haplotype provides a protective effect against the ACL tear. [ABSTRACT FROM AUTHOR]

Dopamine (3,4-dihydroxyphenethylamine) together with adrenaline and noradrenaline belong to the group of catecholamines present in different tissues, predominantly in the nervous system, where they function as neurotransmitters. Our choice of the genetic determinants of the dopaminergic system disorders for the main topic of our project study was influenced by a wide spectrum of influence which the system has on the functions of an organism connected with, for example, its adaptive response to physical effort (it is the very adrenergic system that physiologists call the "work and fight" and even the "fight and flight" system). It is, for example, proven by the confirmed influence of dopaminergic mechanisms on blood pressure, widening of bronchi and a mobilization of energetic substrates. On the other hand, it is worth mentioning another importance of dopamine recognized by psychologists and psychiatrists as the hormone of "motivation, thrill and adventure seeking", which in sport can be of key importance. That is why we would like to link these two areas - genetic and psychological. [ABSTRACT FROM AUTHOR]

Angiotensin converting enzyme gene (ACE) is the most frequently investigated genetic marker in the context of genetic conditioning of athletic predispositions. However, the knowledge of ACE's potential modifying effect on changes in selected body traits achieved through a training programme is still limited. Therefore, we have decided to check whether selected body mass, body composition variables, oxygen uptake parameters as well as strength/speed parameters observed in physically active participants will be modulated by the ACE I/D polymorphism. The genotype distribution was examined in a group of 201 young healthy women measured for chosen traits before and after the completion of a 12-week moderate-intensive aerobic training programme. Our results revealed the significant genotype × training interactions for VEmax and power of countermovement jump, whereas training improvements were demonstrated for almost all parameters. In addition, main effects of the ACE I/D genotype on TGL, HDL, glucose and 10 m run were observed. A significant increase in VEmax was demonstrated for II and DD genotypes, but not for ID heterozygotes. The greatest gain in power of countermovement jump was observed in II homozygotes, although DD and ID were associated with a significant increase as well. Our study indicated that the polymorphism was associated with changes in VEmax and power of countermovement jump in response to a 12-week aerobic training programme in Caucasian women. However, more experimental studies are needed to establish the ACE gene × physical activity interactions. [ABSTRACT FROM AUTHOR]

Purpose. 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 the study was to determine the genotype and allele distribution of the allele and genotype of the ACE gene in Polish male football players. Methods. The total of 106 Polish male professional football players were recruited. They were divided into groups according to the position in the field: forwards, defenders, midfielders, and goalkeepers. For controls, samples were prepared with 115 unrelated volunteers. DNA was extracted from the buccal cells donated by the subjects, and the PCR amplification of the polymorphic region of the ACE gene containing either the insertion (I) or deletion (D) fragment was performed. Results. The genotype distribution and allele frequencies among all football players did not differ significantly when compared with sedentary control individuals (p = 0.887, p = 0.999, respectively). Likewise, the analysis of forwards, defenders, midfielders, and goalkeepers revealed no significant differences in either ACE genotype or allele frequencies. Conclusions. We did not provide evidence for difference of variation of the ACE I/D polymorphism between Polish football players and controls, as we did not obtain any statistically significantly higher frequency of either of the analysed alleles (I and D) or genotypes (DD, ID, and II) in the studied subgroups. It may be suspected that harbouring of I/D allelic variants of the ACE gene neither decreases nor increases the probability of being a professional football player in Poland. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

Introduction. The variance in human athletic ability is the result of interaction of both genetic and environmental factors. The ADRA2A gene that encodes adrenergic receptors α2 is likely to be a candidate gene because ADRA2A receptors are crucial for precise cardiovascular control and are involved in the regulation of adipocyte lipolysis, glucose metabolism and insulin secretion. Several genetic variants of the ADRA2A gene have been identified, and one nucleotide polymorphism (SNP) rs553668 seems to be of special importance. On the basis of results of available studies it is assumed that the C allele of rs553668 might be associated with the status of Polish elite endurance athletes. Aim of the Study. The purposes of the study were to determine the distribution of the ADRA2A rs553668 SNP genotypes within a sample of Polish elite endurance athletes and sedentary controls to investigate a possible association between genetic polymorphisms in the ADRA2A gene and elite endurance athlete status and to check for an association between the rs553668 genotypes and alleles and the athlete status. Material and Methods. The study was performed on a group of 123 elite Polish endurance-oriented athletes. Control samples were prepared from 228 unrelated, sedentary volunteers. Results. No statistical differences were found between the endurance athletes and the control group across the ADRA2A C/T genotypes. Similarly, no statistical differences among the subgroups of top-elite, elite and sub-elite endurance athletes were observed. Conclusions. We found that the C allele as well as C-containing genotypes were not significantly more frequent in endurance athletes than in controls. This may suggest that harboring the T allele of the SNP rs553668 allele does not decrease the probability of being an endurance-oriented athlete in the Polish population. In respect to the analyzed population of Polish endurance athletes the ADRA2A gene can not be considered a candidate determinant of individual variations in exercise-related phenotypes. [ABSTRACT FROM AUTHOR]

In mammalian cells, oxygen homeostasis is regulated by the transcription factor hypoxia-inducible factor-1 (HIF 1). To date, despite the fact that HIF1A has been associated with athletic performance, only two reports have investigated the hypothesis that HIF1A Pro582Ser genotype distribution may differ for power-orientated athletes and controls.The aim of this study was to perform confirmation studies to analyse the possible importance of the HIF1A Pro582Ser polymorphism in power-orientated athletes. The study was carried out on power-orientated athletes (short distance runners, short distance swimmers and weightlifters) and sedentary individuals, representing possible relationships between genotype and physical performance. DNA was extracted from buccal cells donated by the subject. Genotyping was carried out by PCR. Significance was assessed by Chi square (χ2) analysis.The results revealed that the frequency of the HIF1A Pro/Ser genotype (34.18% vs. 18.11%; P = 0.01) and Ser allele (17.09% vs. 9.05%; P = 0.01) was significantly higher in the power-orientated athletes compared to sedentary controls. The results suggest that the HIF1A gene can be taken into consideration as a genetic marker in power-orientated athletes. However, these conclusions should be supported with more experimental studies on HIF1A polymorphisms in elite athletes. [ABSTRACT FROM AUTHOR]

There are recent data suggesting an association between the R577X polymorphism (rs1815739) in the gene encoding α-actinin-3 (ACTN3) and the risk of musculoskeletal injuries. The purpose of this study was to analyze the association of rs1815739 with risk of, and recovery time from non-contact soft-tissue muscle injuries in professional soccer players. Forty-six (22 male and 24 female) players from a top-level professional soccer team were assessed during five consecutive seasons: the genotype distribution was: RR, 41.3%; RX, 47.8%; and XX, 10.9%. There was a trend towards a higher risk of muscle injury associated with the XX genotype (p = 0.092, with no injury-free XX player during the 5-year study period) and a significant genotype effect for the time needed to return to play (p = 0.044, with the highest value shown for the XX genotype, i.e., 36 ± 26 days, vs. 20 ± 10 and 17 ± 12 days for RR and RX, respectively). In conclusion, the XX genotype might be associated not only with a higher risk of non-contact muscle injuries, but also of recovery time from these conditions. However, more research in larger cohorts is needed to confirm this preliminary hypothesis. [ABSTRACT FROM AUTHOR]

The MSTN gene is a negative regulator of muscle growth that is attracting attention as a candidate gene for physical performance traits. We hypothesised that variants of MSTN might be associated with the status of elite athlete. We therefore sought to study the potential role of MSTN in the physical performance of athletes by analysing the whole coding sequence of the MSTN gene in a cohort of Lithuanian elite athletes (n = 103) and non-athletes (n = 127). Consequently, two genetic variants were identified: the deletion of one of three adenines in the first intron (c.373+90delA, rs11333758) and a non-synonymous variant in the second exon (c.458A>G, p.Lys(K)153Arg(R), rs1805086). Among all samples, the MSTN rs1805086 Lys(K) allele was the most common form in both groups. Homozygous genotype for the less common Arg(R) allele was identified in only one elite canoe rower, and we could find no direct association between rs1805086 and successful results in elite athletes. Surprisingly, the intronic variant (rs11333758) was abundant among all samples. The main finding was that endurance-oriented athletes had 2.1 greater odds of being MSTN deletion genotype than non-athletes (13.6% vs. 0.8%). The present study confirms the association of the polymorphism rs11333758 with endurance performance status in Lithuanian elite athletes. [ABSTRACT FROM AUTHOR]

Plasma cell-free DNA (cfDNA) is frequently analyzed using liquid biopsy to investigate cancer markers. We hypothesized that this concept might be applicable in exercise physiology. Here, we aimed to identify specific cfDNA (spcfDNA) sequences in the plasma of healthy humans using next-generation sequencing (NGS) and clearly define the dynamics regarding spcfDNA-fragment levels upon extreme exercises, such as running a full marathon. NGS analysis was performed using cfDNA of pooled plasma collected from healthy participants. We confirmed that the TaqMan-qPCR assay had high sensitivity and found that the spcfDNA sequence abundance was 16,600-fold higher than that in a normal genomic region. We then used the TaqMan-qPCR assay to investigate the dynamics of spcfDNA-fragment levels upon running a full marathon. The spcfDNA fragment levels were significantly increased post-marathon. Furthermore, spcfDNA fragment levels were strongly correlated with white blood cell and plasma myoglobin concentrations. These results suggest the spcfDNA fragments identified in this study were highly sensitive as markers of extreme physical stress. The findings of this study may provide new insights into exercise physiology and genome biology in humans. [ABSTRACT FROM AUTHOR]

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., (© 2019 Daria Domańska-Senderowska, Paulina Szmigielska, Aleksandra Snochowska, Zbigniew Jastrzębski, Anna Jegier, Justyna Kiszałkiewicz, Joanna Jastrzębska, Dorota Pastuszak-Lewandoska, Paweł Cięszczyk, Aleksandra Suchanecka, Michał Wilk, Michał Brzeziański, Ewa Brzeziańska-Lasota, published by Sciendo.)

Collagen alpha-1(V) chain, encoded by the COL5A1 gene, plays a crucial role in abundant fibrillar collagens supporting many tissues in the body containing type I collagen and appears to regulate the association between heterotypic fibers composed of both type I and type V collagen occurring among others in muscles, tendons and ligaments. Taking this fact into consideration we decided to examine the association between COL5A1 rs12722 and rs13946 polymorphisms, individually and as inferred haplotypes, with anterior cruciate ligament rupture risk (ACLR) in professional soccer players. A total of 134 male professional soccer players with surgically diagnosed primary anterior cruciate ligament ruptures and 211 apparently healthy male professional soccer players, who were without any self-reported history of ligament or tendon injury, were included in the study. Both the cases and the healthy controls were recruited from the same soccer teams, of a similar age category, and had a comparable level of exposure to anterior cruciate ligament injury. Genomic DNA was extracted from oral epithelial cells using GenElute Mammalian Genomic DNA MiniprepKit. All samples were genotyped for the rs12722 and rs13946 polymorphisms using a Rotor-Gene realtime polymerase chain reaction. Statistically significant differences in the genotype frequencies for the COL5A1 rs13946 polymorphisms in dominant modes of inheritance occurred (p = 0.039). Statistically significant differences were documented only in the dominant model under the representation tendency of the C-C haplotype in the ACLR group compared to controls (p = 0.038). Our results suggest that variation in the COL5A1 gene may be one of the non-modifiable factors associated with the ACL injury in professional soccer players. The C-C rs12722-rs13946 haplotype provides a protective effect against the ACL tear.

Among genetic variants of the ADIPOQ gene +276 G>T (rs1501299) and -11377 G>C (rs266729) are the most frequently investigated polymorphisms which were described in the context of genetic conditioning for a predisposition to obesity. However, the information of polymorphisms' potential modifying effect on obesity-related traits achieved through training procedures are still unknown. DNA was extracted from buccal cells donated by the 201 participants and genotyping was carried out using real-time PCR. The genotype distribution was examined in a group of women measured for chosen traits before and after the completion of a 12-week training programme. Our results suggest that the ADIPOQ genotypes analyzed individually or in combination can modulate training-induced body mass measurements changes: after the training programme, carriers of rs1501299 T allele and rs266729 C allele were characterized by a greater reduction in fat mass percentage (FM), fat mass, and body mass. Moreover, the ADIPOQ polymorphisms were associated with changes in lipid profile in response to training. Additionally, we showed three main effects of genotypes for the FM, LDL-C (rs266729), and TBW (rs1501299). Our study indicate that the both polymorphisms are associated with changes in obesity-related traits in response to 12-week aerobic training programme in Caucasian women. From this evidence, it could be concluded that rs1501299 G and rs266728 G variants may be considered as disadvantageous factor in the context of training-induced effects on body mass traits., Competing Interests: No conflicts of interest, financial or otherwise, are declared by the authors.

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<0.001). In athletes, but not in controls, relationships were noted between BMI and endurance (r=0.20; p=0.004), BMI and activity (r=-0.283; p<0.001), BMI and pain threshold (r=0.15; p<0.05), and BMI and pain tolerance (r=0.30; p<0.001), when measured by the algometer - this necessitating adjustment for further analysis. The athletes and students in the study groups differed significantly with regard to intensity of four temperamental traits, but after BMI adjustments only group differences in Preservation, Sensory sensitivity and Emotional reactivity remained significant'. These differences indicate individual differences in perception and reaction to external stimuli. Significantly higher pain tolerance (CPT and PPT) in the athletes studied was related to specific psychological features. The obtained results of temperamental characteristics may indicate higher resilience of the nervous system in combat athletes in comparison to non-athletes., (Copyright © 2017 Elsevier Inc. All rights reserved.)

Hand grip strength is a widely used proxy of muscular fitness, a marker of frailty, and predictor of a range of morbidities and all-cause mortality. To investigate the genetic determinants of variation in grip strength, we perform a large-scale genetic discovery analysis in a combined sample of 195,180 individuals and identify 16 loci associated with grip strength (P<5 × 10 -8 ) in combined analyses. A number of these loci contain genes implicated in structure and function of skeletal muscle fibres (ACTG1), neuronal maintenance and signal transduction (PEX14, TGFA, SYT1), or monogenic syndromes with involvement of psychomotor impairment (PEX14, LRPPRC and KANSL1). Mendelian randomization analyses are consistent with a causal effect of higher genetically predicted grip strength on lower fracture risk. In conclusion, our findings provide new biological insight into the mechanistic underpinnings of grip strength and the causal role of muscular strength in age-related morbidities and mortality.

Objectives: The A1470T polymorphism (rs1049434) in the monocarboxylate (lactate/pyruvate) transporter 1 gene (MCT1) has been suggested to influence athletic performance in the general population. We compared genotype distributions and allele frequencies of the MCT1 gene A1470T polymorphism between endurance athletes, sprint/power athletes and matched controls. We also examined the association between the MCT1 A1470T and the athletes' competition level ('elite' and 'national' level)., Design: The study involved endurance athletes (n=112), sprint/power athletes (n=100), and unrelated sedentary controls (n=621), all Caucasians., Methods: Genomic DNA was extracted from buccal epithelium using a standard protocol. We conducted Fisher's exact tests and multinomial logistic regression analyses to assess the association between MCT1 genotype and athletic status/competition level., Results: Sprint/power athletes were more likely than controls to possess the minor T allele (TT genotype compared to the AA [p<0.001]; TT or AT compared to the AA [p=0.007]; TT compared to both AA and AT genotypes [p<0.001]). Likewise, sprint/power athletes were more likely than endurance athletes to have the TT genotype compared to the AA (p=0.029) and the TT compared to both AA and AT genotypes (p=0.027). Furthermore, elite sprint/power athletes were more likely than national-level athletes to have the TT genotype compared to the AA (p=0.044), and more likely to have the TT genotype compared to both AA and AT genotypes (recessive model) (p=0.045)., Conclusions: The MCT1 TT genotype is associated with elite sprint/power athletic status. Future studies are encouraged to replicate these findings in other elite athlete cohorts., (Copyright © 2013 Sports Medicine Australia. Published by Elsevier Ltd. All rights reserved.)