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1.
Abstract

The adenosine monophosphate deaminase (AMPD1) gene seems to be an important regulator of skeletal muscle energy metabolism during exercise. A nonsense C34T mutation in the AMPD1 gene results in a premature stop codon, thus stopping protein synthesis. The aim of this study was to determine the AMPD1 C34T mutation frequency distribution among 155 Israeli athletes (endurance athletes, n=74; sprinters, n=81) and 142 healthy controls. Genotyping of the AMPD1 C34T (rs5810761) mutation was performed using polymerase chain reaction (PCR). Results showed that the genotype subtype did not differ by gender in the athletes (P=0.18) or the controls (P=0.79). The AMPD1 C34T genotype distribution was in line with Hardy-Weinberg equilibrium within all groups (P>0.05). The genotype distribution and allele frequencies were similar in the groups of endurance athletes, sprinters, and controls (P=0.455). Similarly, no significant differences were observed between the subgroups of elite endurance athletes and national endurance athletes (P=0.78), or between elite and national sprinters (P=0.46). In conclusion, the AMPD1 C34T mutation is not associated with endurance athletes’ status, at least in the present group of Israeli athletes. This suggests that elite athletic status can be achieved despite a partial deficiency in AMPD1, as marked by the AMPD1 CT genotype.  相似文献   

2.
Aim: Recent meta-analyses of the literature confirmed the association between the RR+RX genotype of the ACTN3 R577X polymorphism and elite sprint/power athletic status in Europeans but not in Asians and Africans, while the association between the R577X genotype and elite endurance athlete status is less convincing. The aim of the present study was to investigate the association between the ACTN3 R577X genotype and elite athlete status in a large Asian (Japanese) cohort of track and field athletes. Methods: One-thousand fifty-seven Japanese track and field athletes (627 sprint/power athletes and 430 endurance athletes) and 810 Japanese controls were genotyped for the ACTN3 R577X polymorphism (rs1815739) by using the TaqMan® SNP Genotyping Assay. Results: Elite sprint/power athletes had a higher frequency of the RR+RX genotype than the controls (OR: 1.59, 95% CI: 1.16–2.18; P?=?.003). A significant linear correlation was found between the RR?+?RX genotype and athlete status (i.e. regional?P?=?.001 for trend) and long-distance runners (regional: 65%, national: 72%, international: 82%; P?=?.030 for trend). Conclusions: The data obtained for this large Asian (Japanese) cohort of track and field athletes served to confirm the association between the RR?+?RX genotype of the ACTN3 R577X polymorphism and elite sprint/power athlete status and also the association between the ACTN3 RR?+?RX genotype and long-distance running athletic status.  相似文献   

3.
为探讨ACE基因I/D多态性与人类有氧运动能力的关联关系并寻找相关的分子遗传标记,应用PCR-AFLP(扩增片段长度多态性)方法检测优秀耐力运动员与普通人群ACE基因型.结果显示,I等位基因频率运动员组明显增高,有显著性差异(P<0.05),且不同基因型间各性状存在差别,提示ACE I/D 多态性很可能与人体的运动能力及其对运动训练的敏感度相关联.  相似文献   

4.
Abstract

The angiotensin converting enzyme (ACE) polymorphism is the most studied genetic marker in the field of human performance. There is a continuing debate in the literature regarding the possible association of ACE genotypes and elite athletic status. In fact, despite recent studies having identified no significant associations in athletes from mixed sporting disciplines, other researchers suggest that the insertion (I) variant may be associated with elite endurance performance, and the deletion (D) variant can be over-represented among elite sprinters. The purpose of the present study was to determine, for the first time, the association between the ACE genotypes and sprint athlete status among elite Italian gymnasts. To test this hypothesis, we assessed 33 elite Italian gymnasts (17 males, 16 females) and a control group of 53 (31 males, 22 females) unrelated sedentary individuals. DNA was extracted from each participant using a buccal swab and the ACE I/D polymorphism was determined using PCR while different amplified fragments were detected by electrophoresis using agarose gel and ethidium bromide staining. The ACE genotypes and allele frequencies among gymnasts (DD, ID, II=0.39, 0.48, 0.12, respectively; D allele=0.64) were not significantly different from those of Italian sedentary controls (DD, ID, II=0.39, 0.45, 0.15, respectively; D allele=0.62). However, the frequencies of our control group were similar to those observed in a sample of Italian sedentary individuals, and different to those of the general Caucasian population reported by other authors. Furthermore, the frequencies of our control group did not differ from those reported in other association studies involving elite sprint athletes. Our results suggest a lack of association between the ACE I/D polymorphism and elite gymnastics performance in Italians.  相似文献   

5.
目的：研究我国优秀冬季项目运动员ACE基因I/D多态分布及其与优秀耐力能力的关联性。方法：应用基质辅助激光解吸电离飞行时间质谱技术测定120名我国北方汉族健康大学生及50名我国优秀冬季项目运动员ACE基因I/D位点的基因型和等位基因的频率分布。结果：对照组等位基因频率为I=59%,D=41%,基因型频率为I/I=36%,I/D=46%,D/D=18%;冬季项目运动员等位基因频率为I=58%,D=42%,基因型频率为I/I=34%,I/D=48%,D/D=18%;其中25名耐力项目运动员等位基因频率为I=64%,D=36%,基因型频率为I/I=39%,I/D=48%,D/D=12%,符合H-W平衡,对照组与运动员组的基因型频率和等位基因频率无显著性别差异,基因型频率和等位基因频率在对照组与耐力运动员组间也无显著差异。结论：我国耐力型冬季项目运动员的优秀耐力素质与ACE基因I/D多态性无关,该位点不能作为其耐力素质选材的遗传学标记。  相似文献   

6.
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7.
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.  相似文献   

8.
This study presents the kinematics and plantar pressure characteristics of eight elite national-level badminton athletes and eight recreational college-level badminton players while performing a right-forward lunge movement in a laboratory-simulated badminton court. The hypothesis was that recreational players would be significantly different from elite players in kinematics and plantar pressure measures. Vicon® motion capture and Novel® insole plantar pressure measurement were simultaneously taken to record the lower extremity kinematics and foot loading during stance. Recreational players showed significantly higher peak pressure in the lateral forefoot (P = 0.002) and force time integral in the lateral forefoot (P = 0.013) and other toes (P = 0.005). Elite athletes showed higher peak pressure in the medial forefoot (P = 0.003), hallux (P = 0.037) and force time integral in the medial forefoot (P = 0.009). The difference in landing techniques for the lunge step between elite athletes and recreational players was observed with peak ankle eversion (?38.2°±2.4° for athletes and ?11.1°±3.9° for players, P = 0.015); smaller knee range of motion in the coronal and transverse planes, with differences in peak knee adduction (28.9°±6.8° for athletes and 15.7°±6.2° for players, P = 0.031); peak knee internal rotation (20.3°±1.3° for athletes and 11.8°±3.2° for players, P = 0.029) and peak hip flexion (77.3°±4.1° for athletes and 91.3°±9.3° for players, P = 0.037).  相似文献   

9.
The main purpose of this study was to investigate if the rs11091046 (A>C) polymorphism in AGTR2 gene is associated with athletic status in top-level athletes from Brazil. Since the AGTR2 gene is located on the X chromosome, the case-control association study was done separately for women and men. The female cohort was composed of 205 athletes and 241 non-athletes, and the male cohort was composed of 419 athletes and 490 non-athletes. We did not identify an association between the C-allele and the endurance phenotype. However, power athletes had a higher frequency of the A-allele. In women, A/A genotype was overrepresented in international-level power group compared with non-athletes or international-level endurance athletes (23.2% vs. 16.6% or 8.8%, respectively; p < 0.05). In men, the A-allele frequency observed in power athletes or international-level power athletes was statistically different from that observed in non-athletes (51.6% or 57.8% vs. 40.4%; p < 0.009). Furthermore, men sprinters with the A-allele showed significantly faster personal best times for the 100 m than those with the C-allele (10.56 ± 0.32 s vs. 10.93 ± 0.49 s; p < 0.02). In conclusion, it was found that the AGTR2 A-allele is a candidate genetic marker for top-level power athletes.  相似文献   

10.
目的：研究黑龙江汉族速滑运动员优秀耐力能力与肌型肌酸激酶基因（CKMM）A/G多态的关联性。方法：应用PCR-RFLP法测定120名黑龙江籍汉族健康大学生及25名黑龙江汉族耐力型速滑运动员CKMM基因A/G位点的基因型和等位基因的频率分布。结果：大学生等位基因频率为A=87%,G=13%,基因型频率为A/A=76%,A/G=22%,G/G=2%;速滑运动员等位基因频率为A=84%,G=16%,基因型频率为A/A=68%,A/G=32%,经卡方检验符合Hardy-Weinberg遗传平衡定律,两组的基因型频率和等位基因频率在男女间无显著性差异,与欧美人群相比有显著性差异,与我国北方汉族人及韩国人相比差异不具有显著性。两组间基因型频率和等位基因频率无显著性差异。结论：黑龙江汉族耐力型速滑运动员的优秀耐力素质与CKMM基因N coⅠ多态性无关,该位点不能作为其耐力素质选材的遗传学标记。  相似文献   

11.
Abstract

Alpha-actinin-3 (ACTN3) is absent in 18% of healthy Caucasian individuals owing to homozygosity for a premature stop codon (X) at amino acid 577 (rs1815739). Previous studies have shown a strong association between ACTN3 genotype and human athletic performance. In a study of 452 young Chinese male soldiers, we examined the distribution of ACTN3 genotypes and alleles and analysed the association between ACTN3 genotypes and athletic performance. We found that the frequencies of the ACTN3 R577X genotype (RR 39.8%, RX 43.4%, and XX 16.8%) and R577X allele (R 61.5%, X 38.5%) in young Chinese males were not significantly different from those in Caucasians. We only observed a significant association (P = 0.025) between ACTN3 R577X genotypes and grip strength. Participants with the XX genotype displayed significantly lower handgrip strength than individuals with the RR genotype (P = 0.021), but the difference between XX and RX means (P = 0.258) and that between RR and RX means (P = 0.42) was not significant. We did not observe a strong association between the ACTN3 R577X genotypes and sprint phenotypes or endurance phenotypes. In conclusion, our results indicate that the ACTN3 R577X polymorphism is most strongly associated with grip strength in young Chinese male soldiers.  相似文献   

12.
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13.
Abstract

The aim of this study was to investigate the influence of mannose-binding lectin 2 (MBL2)-exon-1 gene polymorphisms on upper respiratory tract infection (URTI) incidence among endurance athletes. To this end, 100 healthy elite male athletes participating in the study were classified as either healthy or prone to frequent URTI. Blood samples, DNA isolation, multiplex polymerase chain reaction (PCR) and conventional PCR-RFLP were performed. Genomic DNA was extracted from peripheral leukocytes of whole blood samples using the QIAmp DNA Blood Mini Kit. For comparison of the distribution of genotypes between two groups and for estimating odds ratios (OR) for URTI susceptibility in relation to the MBL2-exon-1 polymorphism, Pearson's chi-square and logistic regression method were used, respectively. The MBL2-exon-1 genotype distribution differed between athletes with URTI and healthy athletes (χ2 = 7.81, p = 0.02). The AO and AO + OO genotypes of MBL2 were observed at a greater frequency in the illness-prone group compared with the healthy group (34.04% vs. 11.32%). In conclusion, findings from this study have identified a potential role of genetic variation in influencing the risk for URTI in athletic populations and single-nucleotide polymorphisms (SNPs) in the MBL2-exon-1 genes were associated with an altered risk profile. These measures may have a predictive value in the identification of individuals who are more likely to experience recurrent infections when exposed to high physical stress in the areas of athletic endeavour.  相似文献   

14.
Abstract

Research concerned with predictors of talent in football has highlighted a number of potentially important and partially inherited measures such as body size, anaerobic power, aerobic capacity, agility, psychological profile, game intelligence and susceptibility to injuries. Genotyping for performance-associated DNA polymorphisms at an early age could be useful in predicting later success in football. The aim of the study was to investigate individually and in combination the association of common gene polymorphisms with football player’s status. A total of 246 Russian football players and 872 controls were genotyped for 8 gene polymorphisms, which were previously reported to be associated with athlete status. Four alleles (ACE D, ACTN3 Arg577, PPARA rs4253778 C and UCP2 55Val) were first identified, showing discrete associations with football player’s status. Next, we determined the total genotype score (TGS, from the accumulated combination of the 4 polymorphisms, with a maximum value of 100 for the theoretically optimal polygenic score) in athletes and controls. The mean TGS was significantly higher in football players (52.0 (17.6) vs. 41.3 (15.5); P < 0.0001) than in controls. These data suggest that the likelihood of becoming a football player depends on the carriage of a high number of “favourable” gene variants.  相似文献   

15.
Impact loading in athletes participating in various sports has been positively associated with increased bone mineral density (BMD), but this has not been investigated in elite Kenyan runners. Body composition and site-specific BMD measures quantified with dual x-ray absorptiometry were measured in 15 elite male Kenyan runners and 23 apparently healthy South African males of different ethnicities. Training load and biomechanical variables associated with impact loading, such as joint stiffness, were determined in the elite Kenyan runners. Greater proximal femur (PF) BMD (g · cm?2) was higher (P = 0.001, ES = 1.24) in the elite Kenyan runners compared with the controls. Six of the 15 (40%) Kenyan runners exhibited lumbar spine (LS) Z-Scores below ?2.0 SD, whereas this was not found in the apparently healthy controls. PFBMD was associated with training load (r = 0.560, P = 0.003) and ankle (r = 0.710, P = 0.004) and knee (r = 0.546, P = 0.043) joint stiffness. Elite Kenyan runners exhibit greater PFBMD than healthy controls, which is associated with higher training load and higher joint stiffness. Our results reaffirm the benefits of impact loading on BMD at a weight-bearing site, while a high prevalence of low LSBMD in the elite Kenyan runners is hypothesised to be the result of a mismatch between energy intake and high training load. Future research investigating energy availability in Kenyan runners and the possible association with musculoskeletal injury should be investigated.  相似文献   

16.
目的:选取ACTN3基因C1747T多态位点进行解析,筛选中国举重运动员选材用分子标记.方法:提取94名中国北方汉族优秀举重运动员全血DNA,应用PCR-RFLP方法解析C1747T多态位点,通过X2检验与206名普通对照组进行分析.结果:94名中国北方汉族优秀举重运动员的C1747T多态位点的基因型分布经f检验符合H-W平衡(X2=2.04;df=2;P0. 05).优秀举重运动员组与普通时照组ACTN3基因C1747T多态位点的基因型分布具有显著性差异(P=0.031,P<0.05),等位基因分布也具有显著性差异(P=0.022,P<0. 05),与普通对照组(CC基因型:31%;C等位基因:56%)相比,举重运动员组CC基因型(47%)以及C等位基因(66%)的出现频率较高.结论:我国北方汉族人群ACTN3基因C1747T多态位点的CC基因型和C等位基因与优秀的力量素质显著相关.可以将ACTN3基因C1747T多态位点的CC基因型作为中国北方汉族举重运动员的选材用分子标记.  相似文献   

17.
目的：探讨ACTN3 R577X多态性与青少年运动员爆发力素质及其表型指标的关联性，并检验ACTN3 R577X作为分子标记在青少年运动员科学选材中应用的可行性。方法：选取上海地区青少年业余体校青少年运动员96名，其中男运动员58名，女运动员38名，根据项目特点分为爆发力组和耐力组；利用SNaPshot SNP分型技术对采集的DNA样本进行基因分型。爆发力组运动员进行立定跳远、原地纵跳指标的测试。结果：青少年爆发力组运动员ACTN3 R577X基因型分布与青少年耐力组运动员(x2=7.289，P<0.05)和对照组人群(x2=6.831，P<0.05)均存在显著性差异；青少年爆发力组运动员的ACTN3 R577X等位基因频率与青少年耐力组运动员(x2=7.498，P<0.01)和对照组人群(x2=7.923，P<0.01)均存在显著性差异。在青少年爆发力组男、女运动员中，RR、RX基因型运动员的立定跳远和原地纵跳成绩都要显著性高于XX基因型的运动员（P<0.05，P<0.01）。结论 ACTN3基因 R577X多态性与上海地区青少年运动员爆发力素质存在关联，ACTN3基因 R577X多态性与立定跳远、原地纵跳等爆发力素质表型指标存在关联，ACTN3 基因R577X多态性可以作为青少年速度力量型运动员选材的分子标记。  相似文献   

18.
A large proportion of elite cross-country skiers suffer from chronic anterior compartment syndrome (CACS). This study used surface electromyograms (EMGs) to investigate whether differences existed in the activation characteristics of the tibialis anterior muscle between elite cross-country skiers with a history of anterior compartment pain (symptomatic group) and a pain-free control group. Based on self-reported pain symptoms, twelve young, national-level cross-country ski athletes were assigned to a symptomatic group (N = 5), a control group (N = 4), or analyzed individually if their diagnosis was not certain (N = 3). During skating, EMGs were recorded on five lower leg muscles. The relative increase in EMG power per step when increasing the effort level of skating was larger in the symptomatic group than in the control group for tibialis anterior (143 ± 12% vs. 125 ± 23%; Cohen's d = 1.17), peroneus longus (123 ± 24% vs. 107 ± 6%; d = 0.91), and gastrocnemius lateralis (167 ± 51% vs. 117 ± 12%; d = 1.64). The symptomatic group showed more power in the lower frequency bands of the tibialis anterior's EMG spectra (p < 0.001), whereas no group differences were found in other muscles (all p>0.2). Within the step cycle, these differences appeared in the swing phase and in the gliding phase during single leg support. The observed differences in the EMG spectra may serve as an early identification of athletes who are at risk of developing CACS.  相似文献   

19.
This study investigated the acute fatigue pattern in neuromuscular activity after a simulated Boccia game and the effect of fatigue pattern on sport performance. Nine elite Boccia athletes were tested before, during, and after a simulated game. Maximum ball speed was captured with video, and the target hitting rate and rating of perceived exertion (RPE) score were collected and analyzed. Electromyography signals from the upper trapezius, anterior deltoid, posterior deltoid, biceps brachii, triceps brachii, and wrist extensor muscles were collected by surface electrode and were evaluated with mean power frequency (MPF). Only the upper trapezius muscle showed fatigue as demonstrated by a reduction of MPF of 8% (p = 0.027) when comparing the first and last throws in a simulated game. Subjective RPE score increased during the game (118%, p = 0.004), and sports performance in terms of maximum ball speed (-12%, p = 0.004) and target hitting rate (-25%, p = 0.004) also deteriorated. In conclusion, fatigue on the upper trapezius muscle was demonstrated in elite Boccia athletes following a prolonged Boccia game and may have affected Boccia performance. Preventative measures against upper trapezius muscle fatigue and endurance training for synergists of the upper trapezius muscle may be considered in future studies.  相似文献   

20.
The aim of this study was to evaluate the reliability of two long jump tasks and their ability to predict 10 m sprint performance in elite adolescent female athletes. Eight junior national-level female track and field athletes completed three standing (SLJ) and reactive long jumps (RLJ) on portable force plates, followed by three 10 m sprints. Intra-class correlation coefficients (ICC) and coefficients of variation (CV) were calculated to examine reliability. Linear regression results identified the best predictor of average and best 10 m sprint time from the jump kinematic and kinetic measures. The ICCs and CVs indicated good reliability for the majority of kinetic measures however, better reliability was reported for the SLJ. The SLJ was a good predictor of best and average 10 m sprint time, with average horizontal power the best predictor of performance (best; R 2 = 0.751, p = 0.003, Standard Error of Estimate (SEE)% = 2.2 average; R 2 = 0.708, p = 0.005, SEE% = 2.5).  相似文献   

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