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1.
Biol Sport ; 41(2): 47-56, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38524816

RESUMO

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.

3.
BMC Genomics ; 24(1): 761, 2023 Dec 11.
Artigo em Inglês | MEDLINE | ID: mdl-38082252

RESUMO

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.


Assuntos
Desempenho Atlético , Miostatina , Humanos , Atletas , Desempenho Atlético/fisiologia , Genótipo , Miostatina/genética , Miostatina/metabolismo , Polimorfismo Genético
4.
Genes (Basel) ; 14(3)2023 03 16.
Artigo em Inglês | MEDLINE | ID: mdl-36981004

RESUMO

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.


Assuntos
Dor , Polimorfismo de Nucleotídeo Único , Humanos , Percepção da Dor , Limiar da Dor , Genótipo , Canal de Sódio Disparado por Voltagem NAV1.7/genética
5.
Genes (Basel) ; 13(11)2022 10 29.
Artigo em Inglês | MEDLINE | ID: mdl-36360211

RESUMO

There is a wide range of individual variability in the change of body weight in response to exercise, and this variability partly depends on genetic factors. The study aimed to determine DNA polymorphisms associated with fat loss efficiency in untrained women with normal weight in response to a 12-week aerobic training program using the GWAS approach, followed by a cross-sectional study in athletes. The study involved 126 untrained young Polish women (age 21.4 ± 1.7 years; body mass index (BMI): 21.7 (2.4) kg/m2) and 550 Russian athletes (229 women, age 23.0 ± 4.1; 321 men, age 23.9 ± 4.7). We identified one genome-wide significant polymorphism (rs116143768) located in the ACSL1 gene (acyl-CoA synthetase long-chain family member 1, implicated in fatty acid oxidation), with a rare T allele associated with higher fat loss efficiency in Polish women (fat mass decrease: CC genotype (n = 122) -3.8%; CT genotype (n = 4) -31.4%; p = 1.18 × 10-9). Furthermore, male athletes with the T allele (n = 7) had significantly lower BMI (22.1 (3.1) vs. 25.3 (4.2) kg/m2, p = 0.046) than subjects with the CC genotype (n = 314). In conclusion, we have shown that the rs116143768 T allele of the ACSL1 gene is associated with higher fat loss efficiency in response to aerobic training in untrained women and lower BMI in physically active men.


Assuntos
Estudo de Associação Genômica Ampla , Obesidade , Humanos , Masculino , Feminino , Adulto Jovem , Adulto , Adolescente , Obesidade/genética , Estudos Transversais , Índice de Massa Corporal , Peso Corporal
6.
Artigo em Inglês | MEDLINE | ID: mdl-36011809

RESUMO

TTN encodes the third myofilament, titin, which plays structural, mechanical, regulatory, and developmental roles in sarcomeres. The aim of this research was to determine the interaction between novel and previously described TTN variants and athletic performance, as well as competition level, in Caucasians. Firstly, 100 athletes and 47 controls were recruited, and whole-genome sequencing was performed. Secondly, 348 athletes (108 endurance, 100 sprint/power, 140 mixed-sport athletes) and 403 volunteers were included, and real-time PCR was performed. We found a significant overrepresentation of the rs10497520 CT and TT genotypes in the sprint/power athlete group (95% CI, 1.41-3.66, p = 0.0013). The rs10497520 T carriers were 2.17 times more likely to become sprint/power athletes (95% CI 1.35-3.49, p = 0.0021). We also found that the likelihood of having the TT genotype was higher for the highly elite and sub-elite sprint/power athletes. Possessing at least one TAA (rs10497520, rs55837610, rs72648256) haplotype resulted in an increase in the log-odds ratio by 0.80 (p = 0.0015), 1.42 (p = 0.003), and 0.77 (p = 0.044) for all, highly elite, and sub-elite sprint/power athletes, respectively. We demonstrated that harbouring the rs10497520 T allele, individually and in a haplotype combination, increased the chance of being an elite sprint/power athlete, indicating that this allele may be favourable for sprint/power performance.


Assuntos
Desempenho Atlético , Atletas , Conectina , Genótipo , Humanos , Fenótipo , Desempenho Físico Funcional
7.
Artigo em Inglês | MEDLINE | ID: mdl-35564336

RESUMO

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.


Assuntos
Condicionamento Físico Humano , Polimorfismo Genético , Receptores de Dopamina D2 , Estudos de Casos e Controles , LDL-Colesterol , Feminino , Genótipo , Glucose , Humanos , Polimorfismo de Nucleotídeo Único , Receptores de Dopamina D2/genética
8.
Artigo em Inglês | MEDLINE | ID: mdl-35627568

RESUMO

Obesity is a complex multifactorial abnormality that has a well-confirmed genetic basis. However, the problem still lies in identifying the polymorphisms linked to body mass and composition. Therefore, this study aimed to analyze associations between FTO (rs9939609), FABP2 (rs1799883), and LEP (rs2167270), LEPR (rs1137101), and MC4R (rs17782313) polymorphisms and obesity-related parameters. Unrelated Caucasian males (n = 165) were recruited. All participants had similar physical activity levels. The participants were divided into two groups depending on their body mass index (BMI) and fat mass index (FMI). All samples were genotyped using real-time polymerase chain reaction (real-time PCR). When tested individually, only one statistically significant result was found. The FTO A/T polymorphism was significantly associated with FMI (p = 0.01). The chance of having increased FMI was >2-fold higher for the FTO A allele carriers (p < 0.01). Gene−gene interaction analyses showed the additional influence of all investigated genes on BMI and FMI. In summary, it was demonstrated that harboring the FTO A allele might be a risk factor for elevated fat mass. Additionally, this study confirmed that all five polymorphisms are involved in the development of common obesity in the studied population and the genetic risk of obesity is linked to the accumulation of numerous variants.


Assuntos
Dioxigenase FTO Dependente de alfa-Cetoglutarato , Proteínas de Ligação a Ácido Graxo , Leptina , Obesidade , Receptor Tipo 4 de Melanocortina , Receptores para Leptina , Dioxigenase FTO Dependente de alfa-Cetoglutarato/genética , Índice de Massa Corporal , Exercício Físico , Proteínas de Ligação a Ácido Graxo/genética , Humanos , Leptina/genética , Masculino , Obesidade/genética , Polimorfismo de Nucleotídeo Único , Receptor Tipo 4 de Melanocortina/genética , Receptores para Leptina/genética
9.
BMC Genomics ; 23(1): 112, 2022 Feb 09.
Artigo em Inglês | MEDLINE | ID: mdl-35139823

RESUMO

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.


Assuntos
Interleucina-1 , Obesidade , Alelos , Predisposição Genética para Doença , Genótipo , Humanos , Proteína Antagonista do Receptor de Interleucina 1/genética , Interleucina-1/genética , Interleucina-1alfa/genética , Interleucina-1beta/genética , Obesidade/genética , Polimorfismo de Nucleotídeo Único
10.
Artigo em Inglês | MEDLINE | ID: mdl-36612834

RESUMO

Understanding the risk factors and etiology of ACL ruptures (anterior cruciate ligament) is crucial due to the injury's high occurrence, significant financial cost to the healthcare sector, and clinical consequences. In this study, we investigated the hypothesis that rs11784270 A/C and rs6577958 C/T SNPs (single gene polymorphism) within COL22A1 are associated with ACL ruptures (ACLR) in Polish soccer players. Methods: 228 athletes with ACLR (157 male, age 26 ± 4, 71 female, age 26 ± 6) and 202 control athletes (117 male, age 26 ± 6, 85 female, age 29 ± 2) engaged in the study. The buccal cell swabs were genotyped using TaqMan® pre-designed SNP genotyping assays, following the manufacturer's recommendations. The R program and SNPassoc package were used to determine the genotype and allele frequency distributions under the various inheritance models (co-dominant, dominant, recessive, and over-dominant). Further, p-values of <0.05 were considered statistically significant. We found no association between the analyzed polymorphisms and the risk of non-contact ACL ruptures in any of the studied models. Although the genetic variants investigated in this study were not associated with the risk of non-contact ACL ruptures, we assumed that the COL22A1 gene remains a candidate for further investigations in musculoskeletal injuries.


Assuntos
Lesões do Ligamento Cruzado Anterior , Futebol , Humanos , Masculino , Feminino , Adulto Jovem , Adulto , Lesões do Ligamento Cruzado Anterior/genética , Polônia/epidemiologia , Ligamento Cruzado Anterior , Polimorfismo de Nucleotídeo Único , Atletas , Ruptura/genética , Futebol/lesões
11.
J Hum Kinet ; 80: 199-205, 2021 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-34868429

RESUMO

The enzyme polypeptide N-acetylgalactosaminyltransferase like 6, encoded by the GALANTL6 gene, plays a role in the gut microbiome regarding regulation of short-chain fatty acids and their anti-inflammatory and resynthesis functions. It was hypothesized that the T allele of the GALNTL6 rs558129 polymorphism could have a positive effect on anaerobic metabolism. Thus, this study was performed to investigate the association between GALNTL6 rs558129 polymorphism and athletic performance in swimmers. A total of 147 Polish short distance (SDS) and 49 long distance swimmers (LDS) of national or international competitive levels and 379 controls were genotyped using the real-time polymerase chain reaction (real-time PCR). We found that the carriers of the T allele (CT+TT) had a 1.56 times higher chance of being SDS (odds ratio (OR): 95%CI 1.06-2.29) than the CC homozygotes. The T allele was overrepresented in the SDS compared with controls (33.7% vs. 25.7%, p = 0.025, OR 1.40, 95% CI 1.04-1.87), but no statistically significant differences were found for LDS. This study provides evidence for an association between the GALNTL6 rs558129 polymorphism and short distance swimming athlete status. Although more replication studies are needed, the preliminary data suggest an opportunity to use the analysis of GALNTL6 polymorphism along with other variants of candidate genes and standard phenotypic assessment in power-oriented sports selection.

12.
Genes (Basel) ; 12(10)2021 10 19.
Artigo em Inglês | MEDLINE | ID: mdl-34681035

RESUMO

Swimmers' competitive performance is a result of complicated interactions between physiological, biochemical, physical and psychological factors, all of which are strongly affected by water. Recently, great attention has been paid to the role of genetic factors such as the catechol-O-methyltransferase gene (COMT) influencing motivation, emotions, stress tolerance, self-control, sleep regulation, pain processing and perception, addictive behaviour and neurodegeneration, which may underlie differences in achieving remarkable results in sports competition. Thus, this study was performed to investigate the association between the COMT Val158Met (rs4680) polymorphism and athletic performance in Caucasian swimmers. A total of 225 swimmers (171 short distance (SDS) and 54 long distance swimmers (LDS)) of national or international competitive standard and 379 unrelated sedentary controls were genotyped using real-time polymerase chain reaction (real-time PCR). We found no significant differences in genotypic or allelic distributions between (1) male and female athletes; (2) SDS and LDS; (3) all athletes and sedentary controls (under codominant, dominant, recessive, and overdominant genetic models). No association was found between the COMT rs4680 polymorphism and elite swimming athlete status of the studied population. However, more replication studies are needed.


Assuntos
Atletas , Desempenho Atlético/fisiologia , Catecol O-Metiltransferase/genética , Natação/fisiologia , Adolescente , Adulto , Alelos , Feminino , Predisposição Genética para Doença/genética , Humanos , Masculino , Polimorfismo de Nucleotídeo Único/genética , População Branca/genética , Adulto Jovem
13.
Genes (Basel) ; 12(7)2021 07 09.
Artigo em Inglês | MEDLINE | ID: mdl-34356072

RESUMO

The COL1A1 and COL5A1 variants have been associated with the risk of musculoskeletal injuries. Therefore, the main aim of the study was to investigate the association between three polymorphisms within two genes (rs1800012 in COL1A1, as well as rs12722 and rs13946 in COL5A1) and the reported, yet rarely described in the literature, injuries of the joint and muscle area in a physically active Caucasian population. Polish students (n = 114) were recruited and divided into the following two groups: students with (n = 53) and without (n = 61) injures. Genotyping was carried out using real-time PCR. The results obtained revealed a statistically significant association between rs1800012 COL1A1 and injury under an overdominant model. Specifically, when adjusted for age and sex, the GT heterozygotes had a 2.2 times higher chance of being injured compared with both homozygotes (TT and GG, 95% CI 0.59-5.07, p = 0.040). However, no significant interaction between the COL5A1 variants, either individually or in haplotype combination, and susceptibility to injury were found. In addition, the gene-gene interaction analysis did not reveal important relationships with the musculoskeletal injury status. It was demonstrated that rs1800012 COL1A1 may be positively associated with physical activity-related injuries in a Caucasian population. Harboring the specific GT genotype may be linked to a higher risk of being injured.


Assuntos
Cadeia alfa 1 do Colágeno Tipo I/metabolismo , Colágeno Tipo V/metabolismo , Predisposição Genética para Doença , Doenças Musculoesqueléticas/patologia , Polimorfismo de Nucleotídeo Único , População Branca/genética , Adulto , Estudos de Casos e Controles , Cadeia alfa 1 do Colágeno Tipo I/genética , Colágeno Tipo V/genética , Feminino , Humanos , Masculino , Doenças Musculoesqueléticas/genética , Doenças Musculoesqueléticas/metabolismo , Adulto Jovem
14.
J Hum Kinet ; 79: 77-85, 2021 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-34400988

RESUMO

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.

15.
Genes (Basel) ; 12(7)2021 06 22.
Artigo em Inglês | MEDLINE | ID: mdl-34206471

RESUMO

The functional FABP2 Ala54Thr polymorphism (rs1799883) is strongly associated with lipid and carbohydrate metabolism, although the function of its potential modifying effect on training-induced changes in obesity-related parameters is still unknown. The aim of the present study was to investigate the influence of the Ala54Thr polymorphism on post-training changes of selected body mass and body composition measurements, as well as with biochemical parameters of energy metabolism. Accordingly, alleles and genotypes distribution in a group of 168 young, nonobese Caucasian women measured for chosen body composition parameters, lipid profile, and glucose levels before and after the completion of a 12-week aerobic training program were studied. Although the obtained results showed changes in body mass, BMI, FM, %FM, FFM, TBW, HDL-C, and glucose levels during the training program, none of the examined parameters changed significantly across the FABP2 genotypes. Instead, we found a main effect of genotype on BMI (p = 0.033), with carriers of the Thr54 allele having a higher BMI during the whole study period compared with the Ala54 carriers. We confirm that the FABP2 Ala54Thr polymorphism may help identify women at risk for overweight and obesity. However, we did not notice evidence of an interaction between physical activity and the Ala54Thr polymorphism on the examined parameters.


Assuntos
Composição Corporal/genética , Metabolismo Energético/genética , Exercício Físico/genética , Proteínas de Ligação a Ácido Graxo/genética , Adulto , Alelos , Índice de Massa Corporal , Metabolismo dos Carboidratos/genética , Feminino , Genótipo , Glucose/genética , Humanos , Metabolismo dos Lipídeos/genética , Polimorfismo de Nucleotídeo Único/genética , Adulto Jovem
16.
Genes (Basel) ; 12(5)2021 05 11.
Artigo em Inglês | MEDLINE | ID: mdl-34064570

RESUMO

The FTO A/T polymorphism (rs9939609) has been strongly associated with body mass-related traits in nonathletic populations, but rarely with elite athletic performance. The aim of the study was to investigate the association between the A/T polymorphism and athlete status in elite swimmers. Polish swimmers (n = 196) who competed in national and international competition at short- (SDS; 50-200 m; n = 147) and long-distance events (LDS; ≥400 m; n = 49) were recruited. The control group included 379 unrelated, sedentary young participants. The participants were all Caucasians. Genotyping was carried out using real-time PCR. It was found that the chance of being an elite swimmer was lower in carriers of the AT and AA genotype compared with TT homozygotes (1.5 and 2.0 times, respectively). These findings were confirmed in an allelic association; the A allele was less frequent in the swimmers compared with controls (p = 0.004). However, when SDS were compared against LDS, no significant differences were observed in genotypic and allelic distribution. The results of our experiment suggest that the variation within the FTO gene can affect elite athlete status. It was demonstrated that harboring the T allele may be beneficial for achieving success in a sport such as swimming.


Assuntos
Dioxigenase FTO Dependente de alfa-Cetoglutarato/genética , Desempenho Atlético , Polimorfismo de Nucleotídeo Único , Natação/fisiologia , Adolescente , Atletas , Feminino , Humanos , Masculino , Adulto Jovem
17.
Eur J Sport Sci ; 21(9): 1283-1289, 2021 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-32867607

RESUMO

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 lipid level and neurotransmission amongst others. The aim of this study was to examine whether three polymorphisms, KIF6 rs20455T > C, APOE rs429358T > C and APOE rs7412 C > T, were associated with athletic status of an athlete defined as performance type (endurance or power). Genotyping was performed using real-time PCR on buccal genomic DNA from 204 Polish athletes including 104 endurance and 100 power athletes, and 161 sedentary individuals. APOE rs429358 genotype frequencies differed significantly between power athletes and sedentary individuals (p = 0.046). KIF6 rs20455 and APOE rs7412 were found to be epistatically associated with the power athletic status (p = 0.032). KIF6 rs20455, APOE rs429358 and APOE rs7412 were associated with athletic status of Polish athletes. In the future, these polymorphisms could contribute to predictive models aimed at assessment of an individual's athletic status.


Assuntos
Apolipoproteínas E/genética , Desempenho Atlético/fisiologia , Cinesinas/genética , Resistência Física/genética , Adulto , Alelos , Atletas , Feminino , Frequência do Gene , Genótipo , Humanos , Masculino , Polônia , Polimorfismo de Nucleotídeo Único , Adulto Jovem
18.
Sports Health ; 13(3): 278-284, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-33320785

RESUMO

BACKGROUND: Pain is a characteristic, unpleasant sensory and emotional experience associated with actual or potential tissue damage. Pain is a subjective sensation, modulated by many factors such as age, sex, emotional state, national origin, or physical activity. Moreover, it is closely associated with intense physical activity, injuries, and traumas, which can significantly modulate pain tolerance. HYPOTHESIS: We postulate that there are correlations between past injuries, physical activity, and intensity of pain perception (pain threshold and pain tolerance) in a population of healthy men and women. STUDY DESIGN: Retrospective cohort study. LEVEL OF EVIDENCE: Level 4. METHODS: A total of 302 participants aged 18 to 32 years were included. The participants were divided into 2 groups (active and inactive individuals), in accordance with the scope of physical activity they had indicated. The test of pressure pain threshold and pressure pain tolerance was performed using an algometer. RESULTS: Active women achieved significantly higher pain threshold and pain tolerance values in all measurements on the upper limb (except for the pain threshold on the left hand) compared with inactive women. In mediation analysis, the effect of injury remained significant only for the pressure pain tolerance in the dominant arm and the left hand in the female group. In the case of men, there were no significant differences in all measurements in view of the threshold and tolerance for pain between the groups of active and inactive and between men with injuries and without injuries. CONCLUSION: Intense, regular physical activity is a factor modulating the perception of pain. This was demonstrated as lowered sensitivity to pain stimuli in a population of healthy women. CLINICAL RELEVANCE: Injuries should be treated as an important factor modulating the perception of pain. We recommend detailed monitoring of injuries during treatment and control of pain sensation.


Assuntos
Traumatismos em Atletas/psicologia , Percepção da Dor/fisiologia , Adolescente , Adulto , Exercício Físico/psicologia , Feminino , Humanos , Masculino , Limiar da Dor , Estudos Retrospectivos , Fatores Sexuais , Extremidade Superior/fisiologia , Adulto Jovem
19.
J Hum Kinet ; 74: 143-159, 2020 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-33312283

RESUMO

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.

20.
Nutrients ; 12(12)2020 Dec 13.
Artigo em Inglês | MEDLINE | ID: mdl-33322129

RESUMO

BACKGROUND: By using deceptive experimental designs, several investigations have observed that trained individuals may increase their performance when told they were given caffeine, when in fact they received a placebo (i.e., the placebo effect of caffeine). However, most of these investigations on the placebo effect of caffeine used individuals with low caffeine consumption or did not report habitual caffeine consumption, especially in studies analyzing resistance-based exercise. Hence, it is unknown if habitual caffeine consumers benefit from the placebo effect of caffeine on exercise performance. Thus, the aim of the present study was to analyze the placebo effect of caffeine on maximal strength and strength-endurance performance during the bench press exercise (BP) in women with mild-moderate daily consumption of caffeine. METHODS: Thirteen resistance-trained women (BP one-repetition maximum (1RM) = 40.0 ± 9.7 kg) habituated to caffeine (4.1 ± 1.7 mg/kg/day) completed a deceptive randomized experimental design with two experimental trials. On one occasion, participants were told that they would receive 6 mg/kg of caffeine but received a placebo (PLAC), and on other occasions, participants did not receive any substance and were told that this was a control situation (CONT). In each experimental trial, participants underwent a 1RM BP test and a strength-endurance test consisting of performing the maximal number of repetitions at 50% of their 1RM. RESULTS: In comparison to CONT, PLAC did not enhance 1RM (40.0 ± 10.5 kg vs. 41.0 ± 9.5 kg, respectively; p = 0.10), nor did it enhance the number of repetitions (32.2 ± 5.1 vs. 31.8 ± 4.5; p = 0.66) or mean power (130 ± 34 vs. 121 ± 26; p = 0.08) in the strength-endurance test. CONCLUSION: Informing participants that they were given caffeine, when in fact they received a placebo, did not modify any performance variable measured in this investigation. Thus, the use of the placebo effect of caffeine seemed an ineffective strategy to enhance muscle strength and strength endurance during the BP exercise in women with mild-moderate consumption of caffeine.


Assuntos
Cafeína/farmacologia , Estimulantes do Sistema Nervoso Central/farmacologia , Força Muscular/efeitos dos fármacos , Resistência Física/efeitos dos fármacos , Adulto , Estudos Cross-Over , Feminino , Humanos , Efeito Placebo , Adulto Jovem
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