Association of the IL1A and IL6 polymorphisms with posttraining changes in body mass, composition, and biochemical parameters in Caucasian women.

Polymorphisms located in IL1A and IL6 are promising markers of obesity-related traits; however, studies concerning their potential impact on the effectiveness of lifestyle interventions are lacking. Therefore, the aim was to examine the association between the polymorphic sites located in IL1A (rs1800587) and IL6 (rs1800795, rs1800796, and rs1800797) and the body's response to a 12-week training program. We studied the genotype distribution in a group of 168 Caucasian females in whom body mass and composition parameters, the lipid profile, and glucose levels were measured before and after the exercise period. Our results showed that carriers of the IL1A rs1800597 CC genotype exhibited a significant decrease in total body water (TBW) in response to training (p = 0.045). Additionally, carriers of the IL6 rs1800797 GG and GA genotypes demonstrated a posttraining decrease in body mass index (BMI) (p = 0.039). Haplotype analysis revealed that only rare haplotypes, namely, GGA, CGG and CCG (rs1800795, rs1800796, and rs1800797, respectively), were linked to changes in phenotype, yet assessing individual haplotype effects was not possible. Studies of the interactions between these genes showed that carrying the TC-GG genotype (rs1800587-rs1800795 and rs1800587-rs1800796) may be associated with greater posttraining decreases in fat mass percentage (%FM) and fat-free mass (FM). Carriers of the CC-CG genotype (rs1800587-rs1800795) had significantly greater changes in triglycerides (TGL) over the training period. Our study showed that the IL1A and IL6 genotypes, either individually, in haplotype, or in gene-gene combination, may modify training-induced changes in body mass, composition, glucose levels, and the lipid profile in healthy women.

Genetic variants in myostatin and its receptors promote elite athlete status.

BACKGROUND: While product of the myostatin gene (MSTN) is an important factor influencing muscle growth, which is well confirmed in nonhuman species, it has not been clearly confirmed whether MSTN expression influences interindividual differences in skeletal muscle mass, affects posttraining changes, or plays a role in the age-related loss of muscle mass and function in humans. Although the inconclusive results are usually explained by ethnic differences and the low frequency of some alleles, it is possible that the role of receptors (ACVR2A and ACVR2B) that affect the biological activity of myostatin is crucial. Therefore, we investigated the sequences of the MSTN, ACVR2A, and ACVR2B genes and determined the interaction between allelic variants and athletic performance and competition level in the Caucasian population. One hundred-two athletes were recruited for the sequencing study, and whole-genome sequencing (WGS) was performed. Second, 330 athletes and 365 controls were included, and real-time PCR was performed. RESULTS: The sequence analysis revealed two polymorphisms relatively common in the athlete cohort, and the alternate allele showed overrepresentation in athletes: MSTN rs11333758 and ACVR2A rs3764955. Regarding the polymorphic site MSTN rs11333758, there was a significant overrepresentation of the -/- genotype in all high-elite and mixed-sport high-elite athletes. Carriers of the ACVR2A rs3764955 CC and GG genotypes were more likely to be elite and high-elite athletes. In addition, carriers of the CC genotype were more likely to be in the mixed-sport subelite group. The gene‒gene interaction analysis revealed that mixed-sport high elite athletes showed significant underrepresentation of the ACVR2A rs3764955 GC - MSTN rs11333758 AA genotype combination. In the same group, we observed a significant overrepresentation of the ACVR2A rs3764955 GC - MSTN rs11333758 -/- and the ACVR2A rs3764955 CC - MSTN rs11333758 -/- genotype combinations. CONCLUSIONS: We showed that the specific genotypes of the MSTN rs11333758 and ACVR2A rs3764955, either individually or in gene‒gene combination, are significantly associated with athletes' competition level in the Polish population, especially in the mixed-sports athlete group. Thus, although further research is required, these polymorphisms, alone or in combination with other polymorphisms, are among the numerous candidates that could explain individual variations in muscle phenotypes.

The interactions between interleukin-1 family genes: IL1A, IL1B, IL1RN, and obesity parameters.

BACKGROUND: Obesity has been recognized as a worldwide growing problem, producing many pathologies including the promotion of "proinflammatory state." The etiology of human obesity is still only partially understood; however, the genetic background has been proved. Its nature is complex, and currently, it appears that the combined effects of the interactions among multiple genes should receive more attention. Due to the fact that obesity promotes proinflammatory conditions, in this study, we investigated the genetic polymorphism of IL-1 family genes in healthy people with normal and elevated body mass index (BMI) and fat %. RESULTS: The single-nucleotide polymorphisms (SNPs) within the IL1A -889C > T (rs1800587), IL1B + 3954 T > C (rs1143634), and IL1RN -87G > A (rs2234677) genes alone were associated neither with BMI nor fat % values in tested group. The associations between SNP-SNP interaction and BMI for the IL1B × IL1RN interactions were significant for dominant model (p = 0.02) and codominant model (p = 0.03). The same SNP-SNP interaction (IL1B × IL1RN) was associated also with fat % for codominant (p = 0.01) and recessive (p = 0.002) models. CONCLUSIONS: This study further confirmed that IL-1 family genes are involved in genetic background of obesity. It has been shown that interaction IL1B × IL1RN was associated with both BMI and fat % with rare T allele protecting form higher values. Thus, even if certain polymorphisms in single genes of IL-1 family cannot be defined as related to obesity in examined population, the genetic interrelationships should be analyzed.

A Genome-Wide Association Study of Sprint Performance in Elite Youth Football Players.

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, Leonska-Duniec, A, Pajak, B, Chycki, J, Moska, W, Lulinska-Kuklik, E, Dornowski, M, Maszczyk, A, Bradley, B, Kana-ah, A, Cieszczyk, P, Generozov, EV, and Ahmetov, II. A genome-wide association study of sprint performance in elite youth football players. J Strength Cond Res 33(9): 2344-2351, 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.

Association of the TNF-α -308G/A polymorphism with lipid profile changes in response to aerobic training program.

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<0.001). Additionally, we revealed that participants with the GG genotype had a higher low-density lipoprotein cholesterol (LDL-C) level (p=0.046) during the entire study period. It could be concluded that harboring the GG genotype of rs1800629 may be considered to be a disadvantageous factor in the context of training-induced effects on lipid profile changes in young female participants.

The VEGFA gene and anterior cruciate ligament rupture risk in the Caucasian population.

The aim of the present study was to analyse VEGFA rs699947, rs1570360, and rs2010963 polymorphisms with susceptibility to anterior cruciate ligament rupture (ACLR) in a Polish population. The study included 412 physically active Caucasian participants. The study group consisted of 222 individuals with surgically diagnosed primary ACLR qualified for ligament reconstruction (ACLR group). The control group consisted of 190 apparently healthy participants without any history of ACLR (CON group). Three polymorphisms within the VEGFA (rs699947, rs1570360, and rs2010963) gene were chosen for investigation due to their significance in the angiogenesis signalling pathway and previous associations with risk of ACLRs. Both single-locus and haplotype-based analyses were conducted. No significant differences in the allele and genotype frequency distributions were noted for the rs699947 and rs1570360 polymorphisms. In contrast, rs2010963 was associated with risk of ACLR in the codominant (p=0.047) and recessive model (p=0.017). In the latter, the CC genotype was overrepresented among individuals with ACL rupture (23.4% vs 14.2%, OR=1.85 [1.11-3.08]). Two VEGFA haplotypes were associated with ACLR under the additive (global score=11.39, p=0.022) and dominant model (global score=11.61, p=0.020). The [C;G;G] haplotype was underrepresented in the ACLR group (52.2% vs. 60.3%), whereas the [C;G;C] haplotype was overrepresented (2.9% vs 0.5%). The results obtained suggest a potential correlation between the VEGFA rs2010963 polymorphism and ACLR risk, suggesting that harbouring this specific C allele may be an unfavourable risk factor for a knee injury in Caucasian participants from Poland.

Leptin and Leptin Receptor Genes Are Associated With Obesity-Related Traits Changes in Response to Aerobic Training Program.

Leonska-Duniec, A, Jastrzebski, Z, Jazdzewska, A, Krzysztof, F, and Cieszczyk, 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.

ADIPOQ polymorphisms are associated with changes in obesity-related traits in response to aerobic training programme in women.

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.

Individual Responsiveness to Exercise-Induced Fat Loss and Improvement of Metabolic Profile in Young Women is Associated with Polymorphisms of Adrenergic Receptor Genes.

The effectiveness of physical exercise on fat loss and improvement of aerobic capacity varies considerably between individuals. A strong linkage exists between common allelic variants of the adrenergic receptor genes and weight gain, as well as changes in body composition. Therefore we aimed to check if body composition and metabolic variables were modulated by the ADRB2 (Gly16Arg and Glu27Gln), ADRB3 (Trp64Arg) and ADRA2A (rs553668 G/A) gene polymorphisms in 163 Polish sedentary women (age 19-24; body mass index (BMI) 21.7 ± 0.2 kg·m-2) involved in a 12-week aerobic training program. Only 74.8% of participants lost fat mass. On average, participants lost 5.8 (10.4)% of their relative fat mass with training (range: +28.3 to -63.6%). The improvement of VO2max was significantly greater in women who could lose their fat mass compared to women who were unsuccessful in fat loss (4.5 (5.6)% vs. 1.5 (3.8)%; p = 0.0045). The carriers of a low number (0-3) of obesity-related risk alleles (ADRB2 Gly16, ADRB2 Glu27, ADRA2A rs553668 G) were more successful in fat mass loss compared to the carriers of a high number (5-6) of risk alleles (7.7 (9.8) vs 4.0 (9.4)%, p = 0.0362). The presented results support the assumption that variation within adrenergic receptor genes contributes to interindividual changes of body composition in response to physical exercise.

GSTP1 c.313A>G polymorphism in Russian and Polish athletes.

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.

Effect of BDKRB2 Gene -9/+9 Polymorphism on Training Improvements in Competitive Swimmers.

The aim of the study was to investigate the possible association between the BDKRB2 gene and training-induced improvements in swimming performance in well-trained swimmers. One hundred Polish swimmers (52 men and 48 women, aged 18.1 ± 1.9 years), who competed in national and international competitions at middle- (200 m) and long-distance events (≥400 m), were included in the study. Athletes' genotype and allele distributions were analyzed in comparison to 230 unrelated sedentary subjects, who served as controls, with the χ test. All samples were genotyped for the BDKRB2 -9/+9 polymorphism by polymerase chain reaction. The effects of genotype on swimming performance improvements were analyzed with two-way (3 × 2; genotype × time) analysis of variance with metric age as a covariate. The training period of 1.9 ± 0.4 years had a significant (p < 0.01) effect on swimming performance, both in female and male athletes. Both in female and male athletes, the BDKRB2 gene -9/+9 polymorphism had no significant effect on swimming performance. An interaction effect of BDKRB2 gene -9/+9 polymorphism × time was found for swimming performance only in male athletes. Post hoc analyses showed that swimmers with the +9/+9 BDKRB2 genotype had a greater improvement in swimming performance than swimmers with the -9/+9 polymorphism (p ≤ 0.05). No interaction effects for gender × BDKRB2 gene -9/+9 polymorphism were found for either swimming performance or improvement in swimming performance. These results suggest that the response to long-term exercise training could be modulated by the BDKRB2 gene -9/+9 polymorphism in male athletes. In well-trained swimmers, BDKRB2 gene variation was not found to be an independent determinant of swimming performance.

Elite athletes' genetic predisposition for altered risk of complex metabolic traits.

BACKGROUND: Genetic variants may predispose humans to elevated risk of common metabolic morbidities such as obesity and Type 2 Diabetes (T2D). Some of these variants have also been shown to influence elite athletic performance and the response to exercise training. We compared the genotype distribution of five genetic Single Nucleotide Polymorphisms (SNPs) known to be associated with obesity and obesity co-morbidities (IGF2BP2 rs4402960, LPL rs320, LPL rs328, KCJN rs5219, and MTHFR rs1801133) between athletes (all male, n = 461; endurance athletes n = 254, sprint/power athletes n = 207), and controls (all male, n = 544) in Polish and Russian samples. We also examined the association between these SNPs and the athletes' competition level ('elite' and 'national' level). Genotypes were analysed by Single-Base Extension and Real-Time PCR. Multinomial logistic regression analyses were conducted to assess the association between genotypes and athletic status/competition level. RESULTS: IGF2BP2 rs4402960 and LPL rs320 were significantly associated with athletic status; sprint/power athletes were twice more likely to have the IGF2BP2 rs4402960 risk (T) allele compared to endurance athletes (OR = 2.11, 95% CI = 1.03-4.30, P <0.041), and non-athletic controls were significantly less likely to have the T allele compared to sprint/power athletes (OR = 0.62, 95% CI =0.43-0.89, P <0.0009). The control group was significantly more likely to have the LPL rs320 risk (G) allele compared to endurance athletes (OR = 1.26, 95% CI = 1.05-1.52, P <0.013). Hence, endurance athletes were the "protected" group being significantly (p < 0.05) less likely to have the risk allele compared to sprint/power athletes (IGF2BP2 rs4402960) and significantly (p < 0.05) less likely to have the risk allele compared to controls (LPL rs320). The other 3 SNPs did not show significant differences between the study groups. CONCLUSIONS: Male endurance athletes are less likely to have the metabolic risk alleles of IGF2BP2 rs4402960 and LPL rs320, compared to sprint/power athletes and controls, respectively. These results suggest that some SNPs across the human genome have a dual effect and may predispose endurance athletes to reduced risk of developing metabolic morbidities, whereas sprint/power athletes might be predisposed to elevated risk.

Association of the MTHFR 1298A>C (rs1801131) polymorphism with speed and strength sports in Russian and Polish athletes.

It has been suggested that DNA hypomethylation because of poorer effectiveness of the 5,10-methylenetetrahydrofolate reductase (MTHFR) enzyme induces muscular growth. We hypothesised that the common, functional 1298A>C polymorphism in the MTHFR gene is associated with athletic status. To test this hypothesis, we investigated the distribution of the 1298A>C variant in Polish (n = 302) and Russian (n = 842) athletes divided into four groups: endurance, strength-endurance, sprint-strength and strength-endurance, as well as in 1540 control participants. We found different genotypes (the AC heterozygote advantage) and allele distributions among sprint-strength athletes and strength athletes than the groups of sedentary controls for each nationality. In the combined study, the allelic frequencies for the 1298C variant were 35.6% in sprint-strength athletes (OR 1.18 [1.02-1.36], P = 0.024 vs. controls) and 38.6% in strength athletes (OR 1.34 [1.10-1.64], P = 0.003 vs. controls). The results of the initial and repetition studies as well as the combined analysis suggest that the functional 1298A>C polymorphism in the MTHFR gene is associated with athletic status. The presence of the C allele seems to be beneficial in sprint-strength and strength athletes. It needs to be established whether and to what extent this effect is mediated by alteration in DNA methylation status.

Comprehensive Genetic Analysis of Associations between Obesity-Related Parameters and Physical Activity: A Scoping Review.

Genetic epidemiological studies have shown that numerous genetic variants cumulatively increase obesity risk. Although genetically predisposed individuals are more prone to developing obesity, it has been shown that physical activity can modify the genetic predisposition to obesity. Therefore, genetic data obtained from earlier studies, including 30 polymorphisms located in 18 genes, were analyzed using novel methods such as the total genetic score and Biofilter 2.4 software to combine genotypic and phenotypic information for nine obesity-related traits measured before and after the realization of the 12-week training program. The results revealed six genes whose genotypes were most important for post-training changes-LEP, LEPR, ADIPOQ, ADRA2A, ADRB3, and DRD2. Five noteworthy pairwise interactions, LEP × LEPR, ADRB2 × ADRB3, ADRA2A × ADRB3, ADRA2A × ADRB2, ADRA2A × DRD2, and three specific interactions demonstrating significant associations with key parameters crucial for health, total cholesterol (TC), high-density lipoprotein (HDL), and fat-free mass (FFM), were also identified. The molecular basis of training adaptation described in this study would have an enormous impact on the individualization of training programs, which, designed according to a given person's genetic profile, will be effective and safe intervention strategies for preventing obesity and improving health.

The -9/+9 polymorphism of the bradykinin receptor Beta 2 gene and athlete status: a study involving two European cohorts.

Previous studies concerning the relevance of BDKRB2 gene polymorphisms revealed that the absence (-9 allele) of a nine-base-pair sequence in exon 1 of the BDKRB2 gene is correlated with higher skeletal muscle metabolic efficiency, glucose uptake during exercise, and endurance athletic performance. The aim of the study was to investigate the association between the BDKRB2 -9/+9 polymorphism and elite athletic status in two cohorts of eastern European athletes. We examined the genotype distribution of the BDKRB2 9/+9 polymorphic site in a group of Polish athletes and confirmed the results obtained in a replication study of Russian athletes. Three hundred and two Polish athletes and 684 unrelated sedentary controls, as well as 822 Russian athletes and 507 unrelated sedentary volunteers, were recruited for this study. All samples were genotyped for the -9/+9 polymorphism within exon 1 of the BDKRB2 gene using polymerase chain reaction. Significance was assessed by chi square analysis with Bonferroni's correction for multiple testing. We found no statistical difference in the -9/+9 genotype and allele frequencies in two groups of athletes divided into four subgroups: endurance, sprint-endurance, sprint-strength, and strength athletes, compared with controls. There were no significant differences in allele frequencies (p = 0.477) and genotype distribution (p = 0.278) in the initial and replication studies. Thus, no association was found between the BDKRB2 -9/+9 polymorphism and elite athletic status in two cohorts of eastern European athletes.

Association of rs699 (M235T) polymorphism in the AGT gene with power but not endurance athlete status.

Thus far, genetic studies of the renin-angiotensin system (RAS) with respect to athletic performance or athlete status have mainly focused on the angiotensin-converting enzyme gene and its insertion/deletion polymorphism. The aim of this study was to investigate the functional rs699 (M235T) polymorphism in angiotensinogen (AGT), the second most important gene of the RAS, for association with athletic status and level of performance. The study included 123 endurance athletes and 100 power-oriented athletes, who were classified as elite or sub-elite according to competitive achievements at the international level, and 354 unrelated sedentary control subjects. The M235T genotype and allele distributions differed significantly between power and endurance athletes (p < 0.0001 and p < 0.0002, genotypes and alleles, respectively) and between power athletes and control subjects (p < 0.0001 and p < 0.0002, genotypes and alleles, respectively). The frequency of the CC genotype in the power athlete group was 2.2 times higher and 3.1 times higher than in the control and endurance groups, respectively. No difference was found in M235T allele distribution between elite and sub-elite athletes, either in power- or endurance-oriented athletes. We conclude that the CC genotype of the M235T polymorphism is overrepresented in Polish power athletes, suggesting that the AGT M235T variant is associated with power athletes' status.

SCN9A rs6746030 Polymorphism and Pain Perception in Combat Athletes and Non-Athletes.

One of the genes associated with pain perception is SCN9A, which encodes an α-subunit of the voltage gated sodium channel, NaV1.7, a crucial player in peripheral pain sensation. It has been suggested that a common missense polymorphism within SCN9A (rs6746030; G>A; R1150W) may affect nociception in the general population, but its effects of pain perception in athletes remain unknown. Therefore, the aim of the study was to investigate the association between a polymorphism within SCN9A (rs6746030) and pain perception (pain threshold and pain tolerance) in the group of combat athletes (n = 214) and students (n = 92) who did not participate in sports at a professional level. Genotyping was carried out using TaqMan Real-Time PCR method. No significant differences were found between the SCN9A genotype distributions with respect to the pain threshold. However, the probability of having a high pain threshold was higher in the combat sports group than in the control group. The probability of having a decreased pain tolerance was higher in the carriers of the GA and AA genotype than in the homozygotes of the GG genotype. Moreover, the possibility of having a high pain threshold was higher in the combat athlete group than in the control group. The results of our study suggest that the SCN9A rs6746030 polymorphism may affect pain perception. However, the additional effect of the experimental group may suggest that pain tolerance is significantly modulated by other factors, such as the systematic exposure of the athletes' bodies to short-term high-intensity stimuli during training sessions.

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

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

Impact of the DRD2 Polymorphisms on the Effectiveness of the Training Program.

Dopamine receptor D2 gene (DRD2) polymorphisms have been associated with cognitive abilities, obesity, addictions, and physical-activity-related behaviors, which may underlie differences in the effectiveness of training programs. What is not yet clear is the impact of DRD2 polymorphisms on the effectiveness of exercise programs. Thus, the aim of this study was to investigate the association between the DRD2 polymorphic sites (rs1076560, rs12364283, rs1799732, rs1800497, and rs1800498) and the body's response to regular physical activity. We studied genotypes and haplotypes distribution in a group of 165 females measured for body mass and body composition measurements, lipid profile, and glucose levels before and after realization of a 12-week training program. When tested individually, statistical analyses revealed one significant genotype by training interaction under the general model (for the basal metabolic rate, BMR, p = 0.033). Carriers of the rs1076560 CC genotype exhibited a decrease in BMR in response to training (p = 0.006). Haplotype analyses also showed that (i) the CACCC and CACTT haplotypes were associated with a post-training decrease in glucose level (ß = -4.11, p = 0.032; ß = -6.86, p = 0.020, respectively); (ii) the CGCCT with an increase in BMR (ß = 0.65, p = 0.003) and fat free mass (FFM, ß = 1.20, p = 0.009); (iii) the CA-CT with a decrease in low-density lipoprotein cholesterol (LDL, ß = -17.26, p = 0.046). These results provide some evidence that the DRD2 polymorphisms may play a role in post-training changes in lipid and carbohydrate metabolism, and, as a consequence, in the effectiveness of training programs.