Muscle Performance as a Predictor of Bone Health: Among Community-Dwelling Postmenopausal Japanese Women from Setagaya-Aoba Study.

Osteoporosis is a significant health concern for postmenopausal women, necessitating efficient screening methods for bone health. This study explores the potential of muscle function, assessed through the 30-s chair stand test (CS-30), as an indicator for low bone stiffness in this demographic, aiming to establish a practical threshold for large-scale fitness surveillance without the need for specialized tools. We analyzed data from 1055 community-dwelling postmenopausal Japanese women, aged 41-89 years, collected between 2016 and 2019. Participants underwent CS-30 to evaluate muscle function alongside quantitative ultrasound (QUS) measurements to assess bone stiffness. The cohort was divided into two groups for the development and validation of a cutoff point for low bone stiffness, defined as a QUS speed of sound less than 1487.3 m/s. The CS-30 cutoff was determined using receiver operating characteristic (ROC) curve analysis and validated through logistic regression, accounting for age, body mass index, and smoking status. Among 577 postmenopausal women, 16.0% exhibited low bone stiffness. In the development group (n = 382), ROC analysis identified a CS-30 cutoff of 25 repetitions for detecting low bone stiffness, with an area under the curve of 0.744 (P < 0.001). In the validation group (n = 195), participants performing ≥ 25 repetitions had a higher risk of low bone stiffness compared to those performing ≤ 24 repetitions. The CS-30 test is an effective preliminary screening tool for identifying postmenopausal women at risk of low bone stiffness, with a threshold of 25 repetitions. This method could facilitate early detection of individuals at higher osteoporosis risk, promoting timely intervention.

Identification of Genomic Predictors of Muscle Fiber Size.

The greater muscle fiber cross-sectional area (CSA) is associated with greater skeletal muscle mass and strength, whereas muscle fiber atrophy is considered a major feature of sarcopenia. Muscle fiber size is a polygenic trait influenced by both environmental and genetic factors. However, the genetic variants underlying inter-individual differences in muscle fiber size remain largely unknown. The aim of our study was to determine whether 1535 genetic variants previously identified in a genome-wide association study of appendicular lean mass are associated with the CSA of fast-twitch muscle fibers (which better predict muscle strength) in the m. vastus lateralis of 148 physically active individuals (19 power-trained and 28 endurance-trained females, age 28.0 ± 1.1; 28 power-trained and 73 endurance-trained males, age 31.1 ± 0.8). Fifty-seven single-nucleotide polymorphisms (SNPs) were identified as having an association with muscle fiber size (p < 0.05). Of these 57 SNPs, 31 variants were also associated with handgrip strength in the UK Biobank cohort (n = 359,729). Furthermore, using East Asian and East European athletic (n = 731) and non-athletic (n = 515) cohorts, we identified 16 SNPs associated with athlete statuses (sprinter, wrestler, strength, and speed-strength athlete) and weightlifting performance. All SNPs had the same direction of association, i.e., the lean mass-increasing allele was positively associated with the CSA of muscle fibers, handgrip strength, weightlifting performance, and power athlete status. In conclusion, we identified 57 genetic variants associated with both appendicular lean mass and fast-twitch muscle fiber size of m. vastus lateralis that may, in part, contribute to a greater predisposition to power sports.

Influence of ACTN3 R577X Polymorphism on Blood Creatine Kinase Levels Relative to Number of Sprints in Brazilian Professional Soccer Players.

This study sought to assess how post-game creatine kinase (CK) levels correlate with the number of sprints and the impact of the ACTN3 polymorphism on this response. This research constituted a descriptive/observational, retrospective cross-sectional study. DNA was extracted from blood samples for ACTN3 polymorphism genotyping. CK was measured 48 h after official matches, and the number of sprints (>19 km/h) was tracked using Global Positioning System (GPS) technology. The main cohort included 23 professional soccer players from the top tier of the Brazilian Championship. We analyzed 115 GPS + CK data sets. The replication cohort comprised 18 professional soccer players from the First Division of the Championship, had the same methodology applied, and featured a total of 90 GPS (sprints > 25.2 km/h) + CK data sets. For the main cohort, a significant positive correlation was seen between the number of sprints and the CK levels (p = 0.009). Athletes with the ACTN3 RR genotype had higher CK levels as more sprints were performed during the match (p = 0.017). However, the relationship was not found for X allele carriers (p > 0.05). For the replication cohort, there was a near-significant correlation between CK levels and the number of sprints (p = 0.05), and RR individuals showed a significant association (p = 0.01), whereas X allele carriers did not (p = 0.06). A greater number of sprints during matches is linked to higher CK levels, primarily among players with the ACTN3 RR genotype, which is potentially due to an increased presence of type II muscle fibers. These findings were replicated for both cohorts of elite Brazilian soccer players, emphasizing the importance of genetic factors in injury prevention.

Association Between Total Genotype Score and Muscle Injuries in Top-Level Football Players: a Pilot Study.

BACKGROUND: Recently, genetic predisposition to injury has become a popular area of research and the association between a few single nucleotide polymorphisms (SNPs) and the susceptibility to develop musculoskeletal injuries has been shown. This pilot study aimed to investigate the combined effect of common gene polymorphisms previously associated with muscle injuries in Italian soccer players. RESULTS: A total of 64 Italian male top football players (age 23.1 ± 5.5 years; stature 180.2 ± 7.4 cm; weight 73.0 ± 7.9 kg) were genotyped for four gene polymorphisms [ACE I/D (rs4341), ACTN3 c.1729C > T (rs1815739), COL5A1 C > T (rs2722) and MCT1 c.1470A > T (rs1049434)]. Muscle injuries were gathered for 10 years (2009-2019). Buccal swabs were used to obtain genomic DNA, and the PCR method was used to genotype the samples. The combined influence of the four polymorphisms studied was calculated using a total genotype score (TGS: from 0 to 100 arbitrary units; a.u.). A genotype score (GS) of 2 was assigned to the "protective" genotype for injuries, a GS of 1 was assigned to the heterozygous genotype while a GS of 0 was assigned to the "worst" genotype. The distribution of genotype frequencies in the ACE I/D (rs4341), ACTN3 c.1729C > T (rs1815739) and MCT1 c.1470A > T (rs1049434) polymorphisms was different between non-injured and injured football players (p = 0.001; p = 0.016 and p = 0.005, respectively). The incidence of muscle injuries was significantly different among the ACE I/D (rs4341), ACTN3 c.1729C > T (rs1815739) and COL5A1 C > T (rs2722) genotype groups, showing a lower incidence of injuries in the "protective" genotype than "worse" genotype (ACE, p < 0.001; ACTN3, p = 0.005) or intermediate genotype (COL5A1, p = 0.029). The mean TGS in non-injured football players (63.7 ± 13.0 a.u.) was different from that of injured football players (42.5 ± 12.5 a.u., p < 0.001). There was a TGS cut-off point (56.2 a.u.) to discriminate non-injured from injured football players. Players with a TGS beyond this cut-off had an odds ratio of 3.5 (95%CI 1.8-6.8; p < 0.001) to suffer an injury when compared with players with lower TGS. CONCLUSIONS: These preliminary data suggest that carrying a high number of "protective" gene variants could influence an individual's susceptibility to developing muscle injuries in football. Adapting the training load parameters to the athletes' genetic profile represents today the new frontier of the methodology of training.

Effect of sprint interval training load on maximal oxygen uptake in trained men.

BACKGROUND: Sprint interval training (SIT) improves maximal aerobic and anaerobic performance, including oxygen uptake (VO2max), power output, and sprint performance. This study aimed to investigate the effect of SIT load on V̇O2max in trained subjects. METHODS: SIT was performed twice a week for three weeks by twenty-four trained men (aged: 20.7±2.7, V̇O2max 43.6±6.5) and consisted of seven bouts of 10-s cycling sprints followed by a 4-min rest. Subjects were divided into two groups depending on the relative resistance of the load compared to their body mass (BM): 7.5% (S7.5) and 10% (S10). We measured the peak power, mean power, and peak cadence in SIT during the first and final sessions. V̇O2max, maximum aerobic power (MAP), heart rate, and lactate (La) concentration were measured before and after SIT using incremental tests. RESULTS: After 3 weeks of SIT, V̇O2max, MAP, and La improved significantly in both S7.5 and S10 groups. In addition, changes in V̇O2max in S10 were higher than those in S7.5 (2.2±11.2% vs. 9.23±9.57%, P=0.029, adjusted by pre V̇O2max). MAP measurements showed the same results (2.2±11.3% vs. 8.3±10.0%, P=0.015, adjusted by pre-MAP). However, there was no significant interaction between time and group. A significant increase in peak cadence from first session to sixth sessions was observed in S7.5 (P=0.01, ES = 0.93, 95% confidence interval [CI]: 0.02-1.78) but not in S10 (P=0.132, ES = 0.22, 95% [CI]: -0.59-1.01). CONCLUSIONS: Our results suggest that 3 weeks of SIT improves endurance performance in trained subjects. It seems that SIT at 10% load may tend to be more effective.

Association of MMP3 gene polymorphism and sex on recovery of muscle strength after eccentric exercise.

Individual differences in recovery of muscle strength after eccentric exercise may be influenced by sex and genotype. A candidate genetic polymorphism associated with response during muscle recovery is the MMP3 gene rs522616 polymorphism, encoding matrix metalloproteinase (MMP-3). Here, we investigated the effect of the MMP3 gene rs522616 polymorphism and sex on recovery of muscle strength after eccentric exercise. A total of 95 healthy subjects (50 men and 45 women) performed five sets of six maximal eccentric elbow flexion exercises. Maximal voluntary contraction (MVC) torque, range of motion (ROM), and muscle soreness, as well as blood parameters [creatine kinase (CK) and interleukin-6 (IL-6)], were assessed immediately before and after and 1, 2, 3, and 5 days after eccentric exercise. No significant time × group interaction in MVC torque after exercise was observed between groups in both sexes. Furthermore, sex differences were identified in the area under the curves (AUC) of CK and IL-6, both of which were higher in men than those in women. A significant genotype-sex interaction was identified in the recovery of MVC, calculated by subtracting the MVC immediately after exercise from the MVC on day 5 after eccentric exercise. The G allele showed a significantly lower recovery of MVC than the AA genotype in men. However, no significant differences were observed in women. This study demonstrated the interaction between the MMP3 rs522616 polymorphism and sex in recovery of muscle strength after eccentric exercise.NEW & NOTEWORTHY Sex differences were identified in the AUC of creatin kinase (CK) and interleukin 6 (IL-6) after eccentric exercise, both of which were greater in men. A genotype-sex interaction was identified in recovery of maximal voluntary contraction (MVC). The G allele showed a significantly lower recovery of MVC than AA genotype in men. To our knowledge, this is the first study to report the interaction between MMP3 gene rs522616 polymorphism and sex difference on recovery of muscle strength after eccentric exercise.

Arterial stiffness and physical fitness on cognitive function in community-dwelling middle-aged and older adults.

PURPOSE: This study examined whether decline in cognitive function is related to arterial stiffness and reduction in physical fitness in middle-aged and older adults. METHODS: A total of 1554 healthy middle-aged and older adults participated in this study. The trail making test parts-A (TMT-A) and B (TMT-B), brachial-ankle pulse wave velocity (baPWV), grip strength, the 30-s chair stand (CS-30) test, the 6-min walk (6MW) test, the 8-foot up-and-go (8UG) test and gait assessment were performed. Participants were classified into a middle-aged group (40-64 years; mean, 50.4 ± 0.2 years) or an older group (≥ 65 years; mean, 73.1 ± 0.5 years), as well as into three cognition (COG) groups (high, moderate, and low) based on median TMT-A and -B scores (high scores on both, either, or neither TMT-A and -B, respectively). RESULTS: The results revealed that baPWV was significantly lower in the high-than in the moderate- and low-COG groups in both middle-aged and older adults (P < 0.05). In addition, except for a few parameters (e.g., 6MW test in middle-aged adults), physical fitness was significantly higher in the high-than in the moderate- and low-COG groups in both middle-aged and older adults (P < 0.05). Multivariate regression analysis revealed that baPWV (P < 0.05) and some physical fitness indicators (grip strength, CS-30, and 8UG) were significantly independently associated with both TMT-A and -B in the middle-aged and older groups (P < 0.05). CONCLUSION: These results suggest that increased arterial stiffness and reduced physical fitness are associated with impaired cognitive function in middle-aged and older adults.

Effects of free weight and body mass-based resistance training on thigh muscle size, strength and intramuscular fat in healthy young and middle-aged individuals.

NEW FINDINGS: What is the central question of this study? How do free weight resistance training (RT) and body mass-based RT for 8 weeks compare for isometric muscular strength, muscle size and intramuscular fat (IMF) content in the quadriceps femoris? What is the main finding and its importance? Free weight and body mass-based RTs could induce muscle hypertrophy; however, decreased IMF content was observed following the body mass-based RT alone. ABSTRACT: The objective of this study was to investigate the effects of free weight and body mass-based resistance training (RT) on muscle size and thigh intramuscular fat (IMF) in young and middle-aged individuals. Healthy individuals (aged 30-64 years) were assigned to either a free weight RT group (n = 21) or a body mass-based RT group (n = 16). Both groups performed whole-body resistance exercise twice a week for 8 weeks. Free weight resistance exercises (squats, bench press, deadlift, dumbbell rows and back range) involved 70% one repetition maximum, with three sets of 8-12 repetitions per exercise. The nine body mass-based resistance exercises (leg raise, squats, rear raise, overhead shoulder mobility exercise, rowing, dips, lunge, single-leg Romanian deadlifts and push-ups) included the maximum possible repetitions per session, which were performed in one or two sets. Mid-thigh magnetic resonance images using the two-point Dixon method were taken pre- and post-training. The muscle cross-sectional area (CSA) and IMF content in the quadriceps femoris were measured from the images. Both the groups showed significantly increased muscle CSA post-training (free weight RT group, P = 0.001; body mass-based RT group, P = 0.002). IMF content in the body mass-based RT group significantly decreased (P = 0.036) but did not significantly change in the free weight RT group (P = 0.076). These results suggest that the free weight and body mass-based RTs could induce muscle hypertrophy; however, in healthy young and middle-aged individuals, decreased IMF content was induced following the body mass-based RT alone.

Adherence to 24-h Movement Guidelines and Depressive Status During the Coronavirus Disease Outbreak: A Cross-Sectional Japanese Survey.

Objectives: The coronavirus disease 2019 (COVID-19) pandemic has affected people's physical activity, sedentary behavior, and sleep. This study aimed to clarify the association between combining these factors, integrated as adherence to 24-h movement guidelines, and depressive status during the COVID-19 pandemic. Methods: At the end of October 2020, we sent self-administered questionnaires to 1,711 adults aged ≥18. We assessed physical activity, sedentary behavior, sleep duration, adherence to 24-h movement guidelines, depressive status, and confounding factors. Results: Of the 640 valid responses, 90 (14.1%) reported a depressive status. Multivariable odds ratios (95% confidence interval) of depressive status were 0.22 (0.07, 0.71) for all three recommendations of the 24-h movement guidelines and those who met none of the recommendations as reference. The number of guidelines met was associated with depressive status in a dose-response fashion. Conclusion: Meeting the 24-h movement guidelines was associated with a lower prevalence of depressive status during the COVID-19 pandemic. Adults should adhere to these guidelines to maintain their mental health during future quarantine life.

Body Composition, Anthropometric Parameters, and Strength-Endurance Characteristics of Sport Climbers: A Systematic Review.

ABSTRACT: Ginszt, M, Saito, M, Zieba, E, Majcher, P, and Kikuchi, N. Body composition, anthropometric parameters, and strength-endurance characteristics of sport climbers: a systematic review. J Strength Cond Res 37(6): 1339-1348, 2023-Sport climbing was selected to be part of the Summer Olympic Games in Tokyo 2021 with 3 subdisciplines: lead climbing, speed climbing, and bouldering. The nature of physical effort while speed climbing, lead climbing, and bouldering performance is different. This literature review aimed to describe differences between body composition, anthropometric parameters, and upper-limb strength-endurance variables between sport climbers with different ability levels and nonclimbers. The following databases were searched: PubMed and Scopus. The following keywords were used: "sport climbing," "rock climbing," "lead climbing," and "bouldering." Articles were considered from January 2000 to October 2021 if they concerned at least one of the following parameters: body composition (mass, body mass index, body fat, lean muscle mass, bone mineral density), anthropometric parameters (height, ape index), muscle strength (MVC finger strength in half-crimp grip, MVC finger strength to body mass, handgrip strength), and muscle endurance (force time integral, pull-ups). A review shows that body mass and body fat content were lower in the sport climbers compared with controls and in elite sport climbers compared with those less advanced. Sport climbers presented higher values of MVC finger strength in half-crimp grip, MVC finger strength to body mass, handgrip strength, and force time integral parameter than control subjects. Significantly higher MVC values in half-crimp grip were observed in elite sport climbers than in advanced athletes. None of the analyzed work showed differences between sport climber groups in the ape index. The abovementioned parameters may be a key factor in elite sport climbing performance.

The Association between ACTN3 R577X Polymorphism and Range of Motion: A Systematic Review and Meta-analysis.

The R577X polymorphism in the α-actinin-3 gene (ACTN3) is associated with muscle strength and power; there is an association between ACTN3 R577X polymorphism and range of motion (ROM). We examined the effect of the ACTN3 R577X polymorphism on ROM through meta-analysis and systematic review. Relevant studies published before April 14, 2022 were identified from the PubMed database using the following keywords and Boolean operators: ("flexibility" or "Joint Range of Motion" or "Joint Flexibility" or "Range of motion") and ("ACTN3" or "alpha-actinin 3"). Studies that met the following criteria were included: (1) published in English, (2) included human subjects, (3) provided ROM measurements, and (4) analyzed the ACTN3 R577X genotype. A total of 2908 participants from seven studies were included in the meta-analysis. The additive genetic model was assessed using a meta-regression model, and dominant and recessive models were analyzed using a random effects model. The ROM in the XX+RX genotype was significantly higher than that in the RR genotype (recessive model: p<0.001), and it increased additively in the order XX>RX>RR (additive model: p=0.029). However, no significant association was observed in the dominant model. These findings further elucidate the association between flexibility and the ACTN3 R577X genotype.

Novel Insights into Mitochondrial DNA: Mitochondrial Microproteins and mtDNA Variants Modulate Athletic Performance and Age-Related Diseases.

Sports genetics research began in the late 1990s and over 200 variants have been reported as athletic performance- and sports injuries-related genetic polymorphisms. Genetic polymorphisms in the α-actinin-3 (ACTN3) and angiotensin-converting enzyme (ACE) genes are well-established for athletic performance, while collagen-, inflammation-, and estrogen-related genetic polymorphisms are reported as genetic markers for sports injuries. Although the Human Genome Project was completed in the early 2000s, recent studies have discovered previously unannotated microproteins encoded in small open reading frames. Mitochondrial microproteins (also called mitochondrial-derived peptides) are encoded in the mtDNA, and ten mitochondrial microproteins, such as humanin, MOTS-c (mitochondrial ORF of the 12S rRNA type-c), SHLPs 1-6 (small humanin-like peptides 1 to 6), SHMOOSE (Small Human Mitochondrial ORF Over SErine tRNA), and Gau (gene antisense ubiquitous in mtDNAs) have been identified to date. Some of those microproteins have crucial roles in human biology by regulating mitochondrial function, and those, including those to be discovered in the future, could contribute to a better understanding of human biology. This review describes a basic concept of mitochondrial microproteins and discusses recent findings about the potential roles of mitochondrial microproteins in athletic performance as well as age-related diseases.

Effect of Online Home-Based Resistance Exercise Training on Physical Fitness, Depression, Stress, and Well-Being in Middle-Aged Persons: A Pilot Study.

PURPOSE: This study investigated the effect of online home-based resistance exercise training on fitness, depression, stress, and well-being. A total of 67 individuals participated. Of them, 28 participants (13 men and 15 women, average age: 45.1 ± 12.2 years) performed the same exercise training online (n = 17), using Zoom, or in person (n = 11) in 2020 (Study 1). In addition, 39 participants (15 men and 24 women; average age: 47.6 ± 10.8 years) performed eight weeks of online home-based resistance exercise training in 2021 (Study 2). The participants performed low-load resistance exercises twice a week for eight weeks (16 sessions). Muscle strength, thigh muscle cross-sectional area, fitness parameters, blood pressure, mental health (Center for Epidemiologic Studies-Depression Scale-CES-D; and Kessler Psychological Distress scale-K6), and well-being (Well-Being Index-WHO-5) were measured pre-and post-resistance training. In Study 1, eight weeks of online home-based resistance training improved CES-D (p = 0.003), and a similar tendency was observed in resistance training (RT) with the in-person group (p = 0.06). There was a significant improvement in CES-D symptoms after the online home-based resistance training in Study 2 (p = 0.009). However, there were no significant changes in the WHO-5 and K6. Our results suggest that online low-load resistance training improves fitness parameters and curbs depressive status.

Genetic polymorphisms related to muscular strength and flexibility are associated with artistic gymnastic performance in the Japanese population.

This study aimed to examine how genetic polymorphisms related to muscular strength and flexibility influence artistic gymnastic performance in an attempt to identify a novel polymorphism associated with flexibility. In study 1, the passive straight-leg-raise (PSLR) score and aromatase gene CYP19A1 rs936306 polymorphism, a key enzyme for estrogen biosynthesis, were assessed in 278 individuals. In study 2, athletes (281 gymnasts and 1908 other athletes) were asked about their competition level, and gymnasts were assessed using the difficulty score (D-score) for each event. Muscular strength- (ACTN3 R577X rs1815739 and ACE I/D rs4341) and flexibility-related (ESR1 rs2234693 T/C and CYP19A1 rs936306 C/T) genetic polymorphisms were analyzed. In study 1, males with the CYP19A1 CT + TT genotype showed significantly higher PSLR scores than those with the CC genotype. In study 2, male gymnasts with the R allele of ACTN3 R577X showed a correlation with the floor, rings, vault, and total D-scores. In addition, male gymnasts with the C allele of ESR1 T/C and T allele of CYP19A1 C/T polymorphisms were correlated with the pommel horse, parallel bars, horizontal bar, and total D-scores. Furthermore, genotype scores of these three polymorphisms correlated with the total D-scores and competition levels in male gymnasts. In contrast, no such associations were observed in female gymnasts. Our findings suggest that muscular strength- and flexibility-related polymorphisms play important roles in achieving high performance in male artistic gymnastics by specifically influencing the performance of events that require muscular strength and flexibility, respectively.HighlightsEstrogen-related CYP19A1 polymorphism is a novel determinant of flexibility in males.Muscular strength- and flexibility-related polymorphisms play important roles in high performance in male artistic gymnastics.Genotypes of ACTN3 R577X, ESR1 rs2234693, and CYP19A1 rs936306 may contribute to training plan optimization and event selection in artistic gymnastics.

Does resistance exercise lifting velocity change with different rest intervals?

BACKGROUND: In this study, we examined the sex difference of the effect of rest intervals on lifting velocity during resistance exercise. METHODS: Twenty-two trained subjects (11 men and 11 women) were included. Each protocol consisted of 3 sets of 10 repetitions at 70% of 1- repetition maximum (1RM) with rest intervals of 90 s (R90), 150 s (R150), and 240 s (R240) in a crossover design. The exercise did parallel squats with free weights. The measurement items are lifting velocity (mean velocity) in each repetition and blood lactate concentration after exercise. RESULTS: There was a significant interaction between changes in the average velocity of 10 repetition in each set (AV10rep) and sex in each protocol, indicating that AV10rep during squat exercise has decreased in men but not in women in each protocol (P=0.002-0.03). CONCLUSIONS: Our results suggested that short rest intervals will not recover lifting velocity between short rest intervals until the next set at men, while women will be able to recover even with short rest intervals.

Genetic variants within the COL5A1 gene are associated with ligament injuries in physically active populations from Australia, South Africa, and Japan.

Previous small-scale studies have shown an association between the COL5A1 gene and anterior cruciate ligament (ACL) injury risk. In this larger study, the genotype and allele frequency distributions of the COL5A1 rs12722 C/T and rs10628678 AGGG/deletion (AGGG/-) indel variants were compared between participants: (i) with ACL injury in independent and combined cohorts from South-Africa (SA) and Australia (AUS) vs controls (CON), and (ii) with any ligament (ALL) or only ACL injury in a Japanese (JPN) cohort vs CON. Samples were collected from SA (235 cases; 232 controls), AUS (362 cases; 80 controls) and JPN (500 cases; 1,403 controls). Genomic DNA was extracted and genotyped. Distributions were compared, and inferred haplotype analyses performed. No independent associations were noted for rs12722 or rs10628678 when the combined SA + AUS cohort was analysed. However, the C-deletion (rs12722-rs10628678) inferred haplotype was under-represented (p = 0.040, OR = 0.15, CI = 0.04-0.56), while the T-deletion inferred haplotype was over-represented in the female SA + AUS ACL participants versus controls (p < 0.001, OR = 4.74, CI = 1.66-13.55). Additionally, the rs12722 C/C genotype was under-represented in JPN CON vs ACL (p = 0.039, OR = 0.52, 0.27-1.00), while the rs10628678 -/- genotype was associated with increased risk of any ligament injuries (p = 0.035, OR = 1.31, CI = 1.02-1.68) in the JPN cohort. Collectively, these results highlight that a region within the COL5A1 3'-UTR is associated with ligament injury risk. This must be evaluated in larger cohorts and its functional relevance to the structure and capacity of ligaments and joint biomechanics be explored.Highlights The COL5A1 T-deletion inferred haplotype (rs12722-rs10628678) was associated with an increased risk of ACL rupture in the combined SA and AUS female participants.The COL5A1 C-deletion inferred haplotype (rs12722-rs10628678) was associated with a decreased risk of ACL rupture in the combined SA and AUS female participants.The COL5A1 rs12722 C/C and rs10628678 -/- genotypes were associated with increased risk of ACL rupture and of ligament injuries in JPN, respectively.A region within the COL5A1 3'-UTR is associated with risk of ligament injury, including ACL rupture, and therefore the functional significance of this region on ligament capacity and joint biomechanics requires further exploration.

A Pilot Study on the Prediction of Non-Contact Muscle Injuries Based on ACTN3 R577X and ACE I/D Polymorphisms in Professional Soccer Athletes.

Muscle injuries are among the main reasons for medical leavings of soccer athletes, being a major concern within professional teams and their prevention associated with sport success. Several factors are associated with a greater predisposition to injury, and genetic background is increasingly being investigated. The aim of this study was to analyze whether ACTN3 R577X and ACE I/D polymorphisms are predictors of the incidence and severity of muscle injury in professional soccer athletes from Brazil, individually and in association. Eighty-three professional athletes from the first and second divisions of the Brazilian Championship were evaluated regarding the polymorphisms through blood samples. Nighty-nine muscle injuries were identified during the seasons of 2018, 2019 and 2020 and categorized according to severity. ACTN3 XX individuals had a higher frequency of severe injuries compared to the RX and RR genotypes (p = 0.001), and in the dominant model (compared to RX+RR), with p < 0.001. The trend p-value test showed an increased number of injuries/season following the order XX > RX > RR (p = 0.045). Those with the ACE II genotype had almost 2 fold the number of injuries per season compared to those with the ID+DD genotypes (p = 0.03). Logistic regression showed that the polymorphisms are predictors of the development of severe injury (ACTN3 R577X model with p = 0.004, R2: 0.259; ACE I/D model with p = 0.045, R2: 0.163), where ACTN3 XX individuals were more likely to suffer from severe injury (OR: 5.141, 95% CI: 1.472-17.961, p = 0.010). The combination of the ACTN3 577X allele and the ACE II genotype showed an increased number of injuries per season, enhanced by 100% (1.682 injuries/season versus 0.868 injuries/season, p = 0.016). Our findings suggest that both polymorphisms ACTN3 R577X and ACE I/D (and their interaction) are associated with the susceptibility and severity of non-contact muscle injury in soccer players.

ALDH2 gene polymorphism is associated with fitness in the elderly Japanese population.

PURPOSE: The aldehyde dehydrogenase 2 (ALDH2) rs671 polymorphism, which is exclusive to the Asian population, is related to many diseases. A high reactive oxygen species production in mitochondria, and low muscle strength in athletes and non-athletes, has been observed, as our previous study demonstrated. The purpose of this research was to investigate the influence of ALDH2 rs671 on the loss of muscle strength with aging and replicate our previous study in non-athletes. METHODS: Healthy Japanese individuals (n = 1804) aged 23-94 years were genotyped using DNA extracted from saliva. Muscle strength was assessed using grip strength and chair stand test (CST). The interaction between age and genotypes was analyzed by two-way analysis of covariance (ANCOVA) adjusted for sex, body mass index (BMI), and exercise habit. RESULTS: Individuals aged ≧55 with the AA genotype had a lower performance than those with the GG + GA genotype in the grip strength test (28.1 ± 9.1 kg vs. 29.1 ± 8.3 kg, p = 0.021). There was an interaction between age and genotype, where individuals with ≧55 years old AA genotype had a higher loss of strength compared to GG + GA genotypes in the CST (0.025). No interaction in other models and no sex differences were found. CONCLUSION: This study replicated previous results of the relationship between the AA genotype with lower muscle strength and as a novelty showed that this genotype is associated with a higher age-related loss of strength.

The Association between Total Genotype Score and Athletic Performance in Weightlifters.

This study aimed to investigate the relationship between power-oriented genetic polymorphisms and weightlifting status, create a total genotype score (TGS), and validate the association between TGS models and power-oriented athletes. First, 192 weightlifters and 416 controls were studied, and 12 polymorphisms that have previously been associated with strength, power status, and phenotype were genotyped using the TaqMan SNP genotyping assay. We calculated the TGS for the 12 polymorphisms using a PWM (power-oriented whole model) and for 6 of them using a WRM (weightlifting-related model) based on a case-control study. Second, the TGS of the WRM was compared for 177 strength and power athletes and 416 controls. There was no significant difference in the PWM score between weightlifters and the controls. Weightlifters and elite weightlifters had higher WRM scores than the controls. However, the WRM score had no association with weightlifting performance. There was no significant difference in the WRM between power-oriented athletes and the controls. Our study was able to create a TGS model for weightlifters based on case-control results. However, the TGS model could not be applied to other power-oriented athletes.

Genetic profile of sports climbing athletes from three different ethnicities.

This study aimed to investigate the ACTN3 R577X, ACE I/D, CKM rs8111989, and TRHR rs7832552 genotypes in climbers and controls in three ethnicities. The study consisted of 258 climbers (Japanese, n = 100; Polish, n = 128; Russian, n = 30) and 1151 controls (Japanese: n = 332, Polish: n = 635, Russian: n = 184). Genotyping results were analyzed using the TaqMan approach in Japanese and Polish subjects and HumanOmni1-Quad Bead Chips in Russian subjects. There were no significant differences in ACTN3 R577X and ACE I/D polymorphism distribution between climbers and controls in any ethnic cohort or model. The frequencies of the C allele in the CKM polymorphism and the T allele in the TRHR polymorphism were higher in climbers than in controls only in the Russian cohort (p = 0.045 and p = 0.039, respectively). The results of the meta-analysis on three cohorts showed that the frequency of XX + RX genotypes in the ACTN3 R577X polymorphism was significantly higher in climbers than that in the controls (p = 0.01). The X allele of the ACTN3 R577X polymorphism was associated with sport climbing status, as assessed using a meta-analysis of climbers across three different ethnicities.