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Background: Among numerous genes that have been a focus of equine genetic research, the KL (Klotho) and ACTN3 (Alpha-actinin-3) genes stand out due to their significant roles in muscle function and overall health, as well as performance ability. Previous studies on Arabian horses and other mammalians have shown that both KL and ACTN3 occur in different isoforms that seem to have different roles in metabolism. The main purpose of this present study was to describe different isoforms (ACTN3, ACTN3-201, ACTN3-202, KL, KL-202, KL-203) expression levels affected by the endurance effort in Arabian horses. Methods: Blood samples were taken from a group of n = 10 Arabian horses taking part in a long-distance 120 km endurance ride. After RNA isolation and reverse transcription, real-time PCR was performed. The expression levels (Relative Quantity, RQ) were calculated using the delta-delta CT method. The results showed surprisingly large differences between different isoforms expression levels which brought us to the conclusion that both KL and ACTN3 genes are suitable genetic markers to measure endurance performance. Moreover, the correlation network analyses showed that the MIOX (myo-inositol oxygenase), SH3RH2 (SH3 domain-containing ring finger 2) and TNNI2 (Troponin I2, fast skeletal type) genes are significantly involved in the endurance effort metabolism. [ABSTRACT FROM AUTHOR]

ACTN3 R577X and ACE I/D polymorphisms are associated with endurance exercise ability. This case–control study explored the association of ACTN3 and ACE gene polymorphisms with elite pure endurance in Korean athletes, hypothesizing that individuals with both ACTN3 XX and ACE II genotypes would exhibit superior endurance. We recruited 934 elite athletes (713 males, 221 females) and selected 45 pure endurance athletes (36 males, 9 females) requiring "≥90% aerobic energy metabolism during sports events", in addition to 679 healthy non-athlete Koreans (361 males, 318 females) as controls. Genomic DNA was extracted and genotyped for ACTN3 R577X and ACE I/D polymorphisms. ACE ID (p = 0.090) and ACTN3 RX+XX (p = 0.029) genotype distributions were significantly different between the two groups. Complex ACTN3-ACE genotypes also exhibited significant differences (p = 0.014), with dominant complex genotypes positively affecting endurance (p = 0.039). The presence of RX+II or XX+II was associated with a 1.763-fold higher likelihood of possessing a superior endurance capacity than that seen in healthy controls (90% CI = 1.037–3.089). Our findings propose an association of combined ACTN3 RX+XX and ACE II genotypes with enhanced endurance performance in elite Korean athletes. While causality remains to be confirmed, our study highlights the potential of ACTN3-ACE polymorphisms in predicting elite endurance. [ABSTRACT FROM AUTHOR]

Sarcopenia is associated with progressive generalized skeletal muscle weakness, persistent decline in muscle strength, function, and quality of life in the elderly population. The presence of sarcopenia worsens the prognosis of older patients. In this regard, the study of the etiology and pathogenesis of sarcopenia, the identification of early markers for the diagnosis of this disease are relevant areas today. Myokines are secreted by skeletal muscle and play a important role in the regulation of muscle mass and function, metabolic homeostasis. Myokine synthesis disruption may contribute to the development of sarcopenia. In addition, we can see the polymorphism association of various genes with the development of the disease. This review brings together current knowledge about myokines and genetic factors as potential biomarkers for the early diagnosis of sarcopenia.

This study aimed to investigate the longitudinal evolution of vertical jump height in soccer players and its association with their genotypic profiles. The genotypes of 37 soccer players were characterized and the countermovement jump (CMJ) height, concentric mean power, force, and jump strategy were assessed at two time points: at the onset of the regular season (Pre) and at the conclusion of the first half (Mid). AMPD1 (rs17602729), ACE (rs4646994), ACTN3 (rs1815739), CKM (rs8111989), and MLCK (rs2849757 and rs2700352) polymorphisms were genotyped. No significant differences were found between Pre and Mid in concentric power (p = 0.068; d = 0.08) or force (p = 0.258; d = 0.04), while jump height displayed trivial increases (p = 0.046; d = 0.15). Individual analysis revealed that 38% of participants increased the vertical jump height and mean concentric power over the smallest worthwhile change (SWC), while 27% experienced an increased mean concentric force. The positive responders were characterized by a decreased frequency of the AA genotype and an increased frequency of the CA genotype for the c.37885C>A polymorphism of MLCK (p = 0.035), as well as a decreased frequency of the TT genotype of ACTN3 (p = 0.042) and the CC genotype of AMPD1 (p = 0.022). Our findings suggest that genetic analysis could explain some variability in neuromuscular adaptations during the in-season. [ABSTRACT FROM AUTHOR]

The alpha actinin-3 gene (ACTN3) is a significant candidate gene among genetic markers that determine athletic ability. The ACTN3 gene is responsible for the creation of the actin protein in fast-twitch muscle fibers, which is associated with muscle power and speed. The objective of this study was to analyze the changes in performance of the arrowhead agility drill test and the distribution of genotype variants in the ACTN3 rs1815739 gene polymorphism in physically active adult males after a 6- week training period. The research will focus on a cohort of 58 male students, aged 19-24, who are enrolled in the Faculty of Sports Sciences and participate in swimming activities. Genomic DNA was extracted from swab samples obtained from participants using the Buccalyse DNA Extraction Kit from Isohelix, following the manufacturer's supplied technique. The study findings revealed that there was no statistically significant difference between all three genotypes when comparing the pre-test and post-test values of the sample group in terms of left and right foot characteristics. Within this framework, it is acknowledged that the outcomes derived from our investigation could potentially influence the research findings. These aspects include the restricted sample size and the incapacity to regulate individual variances such as concentration and motivation during the pre-test and post-test sessions. Nevertheless, it is believed that the results obtained from our study could potentially enhance future research and literary works in the same field. [ABSTRACT FROM AUTHOR]

Association between genomic variants and athletic performance has seen a high degree of controversy, as there is often conflicting data as far as the association of genomic variants with endurance, speed and strength is concerned. Here, findings from a thorough meta-analysis from 4228 articles exploring the association of genomic variants with athletic performance in power and endurance sports are summarized, aiming to confirm or overrule the association of genetic variants with athletic performance of all types. From the 4228 articles, only 107 were eligible for further analysis, including 37 different genes. From these, there were 21 articles for the ACE gene, 29 articles for the ACTN3 gene and 8 articles for both the ACE and ACTN3 genes, including 54,382 subjects in total, from which 11,501 were endurance and power athletes and 42,881 control subjects. These data show that there is no statistically significant association between genomic variants and athletic performance either for endurance or power sports, underlying the fact that it is highly risky and even unethical to make such genetic testing services for athletic performance available to the general public. Overall, a strict regulatory monitoring should be exercised by health and other legislative authorities to protect the public from such services from an emerging discipline that still lacks the necessary scientific evidence and subsequent regulatory approval. [ABSTRACT FROM AUTHOR]

Purpose: The purpose of this research was to investigate the occurrence of ACE InDel and ACTN3 rs1815739 in sub-elite fitness athletes and to determine which gene is distinctive by comparing genotype and allele frequencies with sedentary individuals. Material and Methods: Forty-one sub-elite fitness athletes and the same number of the sedentary volunteers participated in the study. Genetic analyzes of the athletes were determined using molecular-based methods such as DNA isolation from peripheral blood samples by using a commercial kit and genotyping with real-time polymerase chain reaction (Real-Time PCR), and conventional polymerase chain reaction (PCR). The Chi-Square test was used to compare the genotype distribution and I, D, C, and T allele frequencies of ACE InDel and ACTN3 rs1815739 polymorphisms for statistical significance. Results: No statistical difference was found for ACE I/D polymorphism in terms of both genotype distribution (p=0.4438). A comparison of sub-elite fitness athletes and control groups showed that the ACTN3 rs1815739 polymorphism had a statistically significant difference in terms of genotype distribution (p=0.0313). Conclusion: In conclusion, we suggest that the ACTN3 rs1815739 polymorphism is more effective than the ACE InDel polymorphism in fitness athletes. [ABSTRACT FROM AUTHOR]

The alpha actinin-3 gene (ACTN3) is a significant candidate gene among genetic markers that determine athletic ability. The ACTN3 gene is responsible for the creation of the actin protein in fast-twitch muscle fibers, which is associated with muscle power and speed. The objective of this study was to analyze the changes in performance of the arrowhead agility drill test and the distribution of genotype variants in the ACTN3 rs1815739 gene polymorphism in physically active adult males after a 6- week training period. The research will focus on a cohort of 58 male students, aged 19-24, who are enrolled in the Faculty of Sports Sciences and participate in swimming activities. Genomic DNA was extracted from swab samples obtained from participants using the Buccalyse DNA Extraction Kit from Isohelix, following the manufacturer's supplied technique. The study findings revealed that there was no statistically significant difference between all three genotypes when comparing the pre-test and post-test values of the sample group in terms of left and right foot characteristics. Within this framework, it is acknowledged that the outcomes derived from our investigation could potentially influence the research findings. These aspects include the restricted sample size and the incapacity to regulate individual variances such as concentration and motivation during the pre-test and post-test sessions. Nevertheless, it is believed that the results obtained from our study could potentially enhance future research and literary works in the same field.

Roles of genes in heat acclimation (HA, repeated exercise-heat exposures) had not been explored. ACE I/D and ACTN3 R577X genetic polymorphisms are closely associated with outstanding exercise performances. This study investigated whether the two polymorphisms influenced the response to HA. Fifty young Han nationality male subjects were selected and conducted HA for 2 weeks. Exercise indicators (5-km run, push-up and 100-m run) were tested and rest aural thermometry (RTau) was measured before and after HA. ACE gene was grouped by I homozygote and D carrier, and ACTN3 gene was grouped by R homozygote and X carrier. Results showed that there were no differences between groups in age, body mass index, exercise indicators and RTau before HA. After HA, RTau of ACE I homozygote was lower than that of D carrier [F (1, 48) = 9.12, p = 0.004, η = 0.40]. Compared with RTau before HA, that of I homozygote decreased after HA (Δ = −0.26 °C, 95 % CI -0.34–0.18, p

مقاله پژوهشیمقدمه: امروزه علم ژنتیک با تعیین ژنوتیپ، بررسی می‌کند که یک فرد در چه ورزشی ممکن است موفقیت‌آمیزتر عمل کند. در این مطالعه، به بررسی دو پلی‎مورفیسم مهم از ژن‎های ACTN3 ( rs1815739)که نقش اساسی در شکل‌گیری تنوع تارهای عضلانی دارد و VDR(rs2228570) (رسپتور جذب ویتامین D) که نقش حیاتی در رشد تارهای عضلانی و استخوان‎ها را دارد؛ پرداختیم.روش‌ها: در این مطالعه، ۲۰۰ نفر زن و مرد ورزشکار حرفه‌ای، با (Body mass index) BMI نرمال و حداقل پنج سال سابقه‌ی ورزش حرفه‌ای، در بازه‌ی سنی ۳۵-۲۰ سال با نمره‌ی W ۱۱۰۰-۱۰۰۰ Peak power:در جمعیت مردان و W 700-750Peak power: در جمعیت زنان با بررسی تست Wingate و درصد عضلات حداقلی 30%:SMM با توجه‌ به آنالیزهای دستگاه بادی‎کامپوزیشن انتخاب شدند و با گروه شاهد ۲۰۰ نفری مقایسه گردیدند. پس از نمونه‌گیری و استخراج DNA، با استفاده از تکنیک RFLP-PCR پلی‌مورفیسم‌ها بررسی شدند.یافته‌ها: نتایج پژوهش حاضر نشان داد که در بین شاخص‌های توده‌ی عضلانی و نمره‌ی تست Wingate در بین جمعیت مرد و زن ورزشکار، نسبت به نمونه‌های کنترل تفاوت معنی‌داری وجود دارد، همچنین برای پلی‌مورفیسم rs1815739 در حالت هتروزیگوت و پلی‌مورفیسم rs2228570 در فرم هموزیگوت غالب تفاوت‌های معنی‌داری مشاهده شد.نتیجه‌گیری: به نظر می‌رسد در پلی‌مورفیسم rs1815739، ورزشکاران نیازمند هر دو نوع تارهای عضلانی تند و کند انقباض برای موفقیت خود هستند و وجود بیشتر هموزیگوت GG در پلی‌مورفیسم rs2228570 به ورزشکاران در جذب بهتر ویتامین D کمک کرده است.

This study aimed to investigate the longitudinal evolution of vertical jump height in soccer players and its association with their genotypic profiles. The genotypes of 37 soccer players were characterized and the countermovement jump (CMJ) height, concentric mean power, force, and jump strategy were assessed at two time points: at the onset of the regular season (Pre) and at the conclusion of the first half (Mid). AMPD1 (rs17602729), ACE (rs4646994), ACTN3 (rs1815739), CKM (rs8111989), and MLCK (rs2849757 and rs2700352) polymorphisms were genotyped. No significant differences were found between Pre and Mid in concentric power (p = 0.068; d = 0.08) or force (p = 0.258; d = 0.04), while jump height displayed trivial increases (p = 0.046; d = 0.15). Individual analysis revealed that 38% of participants increased the vertical jump height and mean concentric power over the smallest worthwhile change (SWC), while 27% experienced an increased mean concentric force. The positive responders were characterized by a decreased frequency of the AA genotype and an increased frequency of the CA genotype for the c.37885C>A polymorphism of MLCK (p = 0.035), as well as a decreased frequency of the TT genotype of ACTN3 (p = 0.042) and the CC genotype of AMPD1 (p = 0.022). Our findings suggest that genetic analysis could explain some variability in neuromuscular adaptations during the in-season.

An elite athlete's status is associated with a multifactorial phenotype depending on many environmental and genetic factors. Of course, the peculiarities of the structure and function of skeletal muscles are among the most important characteristics in the context of athletic performance. Purpose: To study the associations of SNV rs1815739 (C577T or R577X) allelic variants and genotypes of the ACTN3 gene with qualification and competitive distance in Caucasian athletes of the Southern Urals. Methods: A total of 126 people of European origin who lived in the Southern Urals region took part in this study. The first group included 76 cyclical sports athletes (speed skating, running disciplines in track-and-field): SD (short distances) subgroup—40 sprinters (mean 22.1 ± 2.4 y.o.); LD (long distances) subgroup—36 stayer athletes (mean 22.6 ± 2.7 y.o.). The control group consisted of 50 healthy nonathletes (mean 21.4 ± 2.7 y.o.). We used the Step One Real-Time PCR System (Applied Biosystems, USA) device for real-time polymerase chain reaction. Results: The frequency of the major allele R was significantly higher in the SD subgroup compared to the control subgroup (80% vs. 64%; p-value = 0.04). However, we did not find any significant differences in the frequency of the R allele between the athletes of the SD subgroup and the LD subgroup (80% vs. 59.7%, respectively; p-value > 0.05). The frequency of the X allele was lower in the SD subgroup compared to the LD subgroup (20% vs. 40.3%; p-value = 0.03). The frequency of homozygous genotype RR was higher in the SD subgroup compared to the control group (60.0% vs. 34%; p-value = 0.04). The R allele was associated with competitive distance in the SD group athletes compared to those of the control group (OR = 2.45 (95% CI: 1.02–5.87)). The X allele was associated with competitive distance in the LD subgroup compared to the SD subgroup (OR = 2.7 (95% CI: 1.09–6.68)). Conclusions: Multiplicative and additive inheritance models demonstrated that high athletic performance for sprinters was associated with the homozygous dominant genotype 577RR in cyclical sports athletes of Caucasian origin in the Southern Urals. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

Objective:A functional polymorphism on the 16th exon of the alpha-actinin-3 gene has an effect on the protein structure and cellular signaling and therefore on muscle contraction. In this study, we aimed to analyze the alpha-actinin-3 rs1815739 polymorphism in 3-dimensional malocclusions and different craniofacial skeletal patterns.Methods: Forty-nine volunteering subjects enrolled for the study. Genotyping of alpha-actinin-3 rs1815739 polymorphism was performed using real-time polymerase chain reaction. Pre-orthodontic cephalometric radiographs were traced using NemoTech cephalometric tracing software. IBM SPSS Statistics for Windows was utilized to carry out statistical analysis. P < .05 was considered to be statistically significant.Results: The respective numbers and the percentages of alpha-actinin-3 rs1815739 polymorphisms for RR, RX, and XX genotypes were 39 (79.6%), 4 (8.2%), and 6 (12.2%), respectively. Twenty-one patients had low angle vertical patterns and 17 patients had Class I and the same number of the patients had Class III facial patterns. But none of these had statistically significant difference in terms of alpha-actinin-3 rs1815739 polymorphism and in vertical or sagittal facial patterns, and mandibular incisor inclination. When we examined the maxillary anteroposterior position, we found a significant difference between rs1815739 polymorphisms (P < .05). Also, we detected a significant difference between rs1815739 polymorphism and maxillary incisor inclination (P < .05).Conclusion: Maxillary incisor inclination and maxillary anteroposterior position are associated with alpha-actinin-3 rs1815739 polymorphism in a Turkish cohort.

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. [ABSTRACT FROM AUTHOR]

Objective: The aim of this study was to examine whether ACTN3 rs1815739 polymorphism, which causes the deficiency of the alpha-actinin-3 muscle protein, is related to the formation of open bite malocclusion., Materials and Methods: Fifty-eight participants (18.5 ± 3.6 years old) with anterior open bite (n = 29) and normal overbite (n = 29) who presented to Marmara University, Department of Orthodontics for treatment were included in the study. Initial cephalometric radiographs were used for the diagnosis of malocclusion. The case group was divided into three subgroups according to degree of open bite. For DNA isolation, oral epithelial cells were collected with buccal swabs (Van Allen Way, Carlsbad, USA), and the real-time PCR method was used for the genotyping of all polymorphisms. The results were statistically analysed, and the threshold for statistical significance was set at p < 0.05., Results: The frequencies of RR, RX and XX genotypes of ACTN3 rs1815739 polymorphism were found as 6 (20.7%), 14 (48.3%) and 9 (31.0%) in the control group and 8 (8%), 9 (31.0%) and 12 (41.4%) in the case group, respectively. There was no statistically significant difference between the groups in terms of the presence of the examined polymorphism (p > 0.05). However, the intra-group evaluation of case group revealed a significant difference in the prevalence of XX genotype (83.3%) for the subgroup with an open bite of -5 mm or above., Conclusion: Although no significant difference was observed between the case and control groups, a possible association was identified between ACTN3 rs1815739 polymorphism and an increased severity of open bite malocclusion., (© 2024 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)

A wide phenotypic spectrum exists among DMD patients, with genetic modifiers seen as a putative cause of this variability. The main aim was to evaluate the effect of 4 genetic modifiers and the location of DMD variants on disease severity in a DMD Argentine cohort. A secondary objective was to provide a summary of the current state of knowledge and association of the tested loci with DMD's phenotype. Two groups of patients with extreme phenotypes (Severe/Mild) were defined based on the age at loss of ambulation. SNVs in SPP1, LTBP4, CD40, and ACTN3 were genotyped, and their distribution was compared between groups using Chi-square or Fisher exact tests. Concurrent effects with glucocorticoids treatment, DMD mutation location (proximal/distal) and the other loci were evaluated by multivariate logistic regression. Additionally, we performed a systematic literature review to summarize and interpret the impact of modifiers on various DMD traits. ACTN3-rs1815739 was the only modifier loci of DMD progression in our cohort. A concurrent damaging effect between DMD mutation and ACTN3 was detected, identifying a possible interaction between distal variants and ACTN3 TT-genotype that need to be validated in a larger cohort. The systematic review showed agreement in the results when significant differences were reported. The employment of extreme DMD phenotypic groups was an innovative approach for identifying risk loci for disease severity. The interaction between DMD mutation location and ACTN3, if confirmed, could help to avoid confounding elements in assembling study cohorts for clinical trials. Finally, this report's major highlight is being the first study conducted on an Argentine and Latin-American population., Competing Interests: Declaration of Competing interest The authors Florencia Giliberto, PhD., Lilia Mesa, MD, and Alberto Dubrovsky, MD, have received honoraria/grants for either: teaching, consultation, advisory board and speaker activities from: PTC Therapeutics, Sarepta Therapeutics, Sanofi Genzyme and Biomarin. Florencia Giliberto, PhD., received research grants from PTC pharmaceuticals to perform genetic testing of the patients. The sponsor did not interfere with study design; collection, analysis and interpretation of data; writing of the manuscript and in the decision to submit the present work for publication. The remaining authors have nothing to report., (Copyright © 2024 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.)

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.

Bone and muscle mass loss are known to occur simultaneously. The alpha-actinin three (ACTN3) genotype has been shown to potentially affect bone and muscle mass. In this study, we investigated the association between the ACTN3 genotype and bone and muscle mass loss in community-dwelling adults aged ≥ 60 years. This study was a cross-sectional analysis of data from 295 participants who participated in a community health checkup. The ACTN3 genotypes were classified as RR, RX, or XX types. Bone mass loss was defined as a calcaneal speed of sound T-score of <−1.32 and <−1.37, and muscle mass loss was defined as an appendicular skeletal muscle index of <7.0 kg/m2 and <5.7 kg/m2 in men and women, respectively. The percentages of XX, RX, and RR in the combined bone and muscle mass loss group were 33.8%, 30.8%, and 16.7%, respectively, with a significantly higher trend for XX. Multinomial logistic regression analysis showed that XX had an odds ratio of 3.00 (95% confidence interval 1.05–8.54) of being in the combined bone and muscle mass loss group compared to the RR group (covariates: age, sex, grip strength, and medications). The ACTN3 genotype of XX is associated with a higher rate of comorbid bone and muscle mass loss. Therefore, ACTN3 genotyping should be considered for preventing combined bone and muscle mass loss. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

The aim of study was to investigate distribution of ACE and ACTN3 gene polymorphisms in young female footballers and to test association of common gene polymorphisms with body composition, arterial blood pressure and ECG screening variables. A group of 45 white, healthy, adolescent female elite footballers (FG) and 60 sedentary female controls (CG) enrolled in this study. HRM method has been developed to differentiate between variant alleles of ACE and ACTN3 genes. No significant difference was found in the ACE and ACTN3 genotypes or allele frequencies distribution between FG and CG (p>0.05). Also, neither insertion in the ACE gene, nor nonsense mutation in the ACTN3 gene had a significant effect on resting BP and ECG parameters. Cardiovascular adaptation to intensive physical activity in FG is manifested as lowered resting systolic and diastolic blood pressure (lower 18 and 11 percentiles, respectively). Footballers with ACE DD and ACTN3 XX polymorphisms had higher values of Sokolow-Lyon voltage for LV hypertrophy, but without statistically significance (p=0.61 and 0.2, respectively). Interpretation of the effect of specific genes with presumed large effect on sport performance, should be cautious, especially in team sports with a mixed type of physical activity, such as football. [ABSTRACT FROM AUTHOR]

Background: The ACTN3 gene is primarily expressed in fast skeletal muscle fibres. A common nonsense polymorphism in this gene is ACTN3 R577X (rs1815739), which causes an absolute deficiency of α‐actinin‐3 protein and alterations in muscle metabolism. Considering metabolic alterations are influenced by nutrition and genetic factors, as well as lifestyle factors, we hypothesise a possible association of the ACTN3 R577X polymorphism with metabolic alterations. Methods: In this cross‐sectional study, 397 adults met the inclusion criteria. Body composition was measured by electrical bioimpedance. Dietary data were analysed using Nutritionist Pro™ software. Biochemical variables were determined by dry chemistry. Genomic DNA was extracted from peripheral leukocytes and genotyping of the ACTN3 R577X polymorphism was determined by allelic discrimination using TaqMan probes. The statistical analyses were performed using SPSS statistical software. p < 0.05 was considered statistically significant. Results: The ACTN3 577XX genotype was associated with high glucose, triglyceride and very low density lipoprotein‐cholesterol levels and a higher frequency of hypertriglyceridaemia and insulin resistance in women. In males, the genetic variant showed a trend towards significance for insulin resistance. Conclusions: The ACTN3 R577X polymorphism was associated with metabolic alterations in women and a tendency was observed in men variant carriers. Thus, this common genetic variant could be implicated in the development of chronic metabolic diseases. Highlights: The ACTN3 R577X polymorphism is associated with metabolic alterations in women from western Mexico.Insulin resistance by the triglyceride‐glucose index was associated with the XX genotype in women, and there was a significant trend towards a higher proportion in XX genotype males compared to the RR/RX genotype.The XX ACTN3 genotype could be a predictor for metabolic alterations in a sex‐dependent manner.The present study does not exclude the potential role of ACTN3 R577X on gene–nutrient or gene–gene interactions related to metabolic alterations. [ABSTRACT FROM AUTHOR]

Several genes are involved in sport performance, especially in injuries incidence. The aim of this study was to investigate the association of ACE, ACTN3, COL1A1, and MCT1 genotypes and injuries in rugby players in order to find a genotype/phenotype correlation and provide useful information improving athletic performance. One-hundred male professional and semiprofessional rugby players were selected. Analysis was performed genotyping the genes ACE, ACTN3, COL1A1, and MCT1 as candidate gene of interest involved in athletic performance. A control group of non-athletic Italian male participants was analyzed to compare the results. We found statistical significance of MCT1 rs1049434 AA for total injuries (χ2 = 0.115; p = 0.003) and bone injuries (χ2 = 0.603; p = 0.007) in the rugby athlete population. No statistical significance was found between injury incidence and ACE, ACTN3, COL1A1 genotypes. The MCT1 AA genotype is associated with the incidence of total and bone injuries in the rugby player population. Although environmental factors such as lifestyle, diet, training, and stress can influence athletic performance, our data demonstrated the importance of genetic study in sport aimed at developing personalized training and achieving the best possible athletic excellence. [ABSTRACT FROM AUTHOR]

Athletic performance is influenced by many factors such as the environment, diet, training and endurance or speed in physical effort and by genetic predisposition. Just a few studies have analyzed the impact of genotypes on physical performance in rugby. The aim of this study was to verify the modulation of genetic influence on rugby-specific physical performance. Twenty-seven elite rugby union players were involved in the study during the in-season phase. Molecular genotyping was performed for: angiotensin-converting enzyme (ACE rs4646994), alfa-actinin-3 (ACTN3 rs1815739) and monocarboxylate transporter 1 (MCT1 rs1049434) and their variants. Lean mass index (from skinfolds), lower-limb explosive power (countermovement jump), agility (505), speed (20 m), maximal aerobic power (Yo-yo intermittent recovery test level 1) and repeated sprint ability (12 × 20 m) were evaluated. In our rugby union players ACE and ACTN3 variants did not show any influence on athletic performance. MCT1 analysis showed that TT-variant players had the highest peak vertical power (p = 0.037) while the ones with the AA genotype were the fastest in both agility and sprint tests (p = 0.006 and p = 0.012, respectively). Considering the T-dominant model, the AA genotype remains the fastest in both tests (agility: p = 0.013, speed: p = 0.017). Only the MCT1 rs1049434 A allele seems to be advantageous for elite rugby union players, particularly when power and speed are required. [ABSTRACT FROM AUTHOR]

Objective: A functional polymorphism on the 16th exon of the alpha-actinin-3 gene has an effect on the protein structure and cellular signaling and therefore on muscle contraction. In this study, we aimed to analyze the alpha-actinin-3 rs1815739 polymorphism in 3-dimensional malocclusions and different craniofacial skeletal patterns. Methods: Forty-nine volunteering subjects enrolled for the study. Genotyping of alpha-actinin-3 rs1815739 polymorphism was performed using real-time polymerase chain reaction. Pre-orthodontic cephalometric radiographs were traced using NemoTech cephalometric tracing software. IBM SPSS Statistics for Windows was utilized to carry out statistical analysis. P < .05 was considered to be statistically significant. Results: The respective numbers and the percentages of alpha-actinin-3 rs1815739 polymorphisms for RR, RX, and XX genotypes were 39 (79.6%), 4 (8.2%), and 6 (12.2%), respectively. Twenty-one patients had low angle vertical patterns and 17 patients had Class I and the same number of the patients had Class III facial patterns. But none of these had statistically significant difference in terms of alpha-actinin-3 rs1815739 polymorphism and in vertical or sagittal facial patterns, and mandibular incisor inclination. When we examined the maxillary anteroposterior position, we found a significant difference between rs1815739 polymorphisms (P < .05). Also, we detected a significant difference between rs1815739 polymorphism and maxillary incisor inclination (P < .05). Conclusion: Maxillary incisor inclination and maxillary anteroposterior position are associated with alpha-actinin-3 rs1815739 polymorphism in a Turkish cohort. [ABSTRACT FROM AUTHOR]

The common loss-of-function mutation R577X in the structural muscle protein ACTN3 emerged as a potential target of positive selection from early studies and has been the focus of insightful physiological work suggesting a significant impact on muscle metabolism. Adaptation to cold climates has been proposed as a key adaptive mechanism explaining its global allele frequency patterns. Here, we re-examine this hypothesis analyzing modern (n = 3,626) and ancient (n = 1,651) genomic data by using allele-frequency as well as haplotype homozygosity-based methods. The presented results are more consistent with genetic drift rather than selection in cold climates as the main driver of the ACTN3 R577X frequency distribution in human populations across the world. This Matters Arising paper is in response to Wyckelsma et al. (2021), 1 published in The American Journal of Human Genetics. See also the response by Wyckelsma et al. (2022), 2 published in this issue. [ABSTRACT FROM AUTHOR]

Introduction/Aims: Serum cardiac troponin I (cTnI), its relation to cardiomyopathy, and the contribution of the ACTN3 genotype to serum levels of cTnI in Duchenne and Becker muscular dystrophy (DMD and BMD, respectively) remain unknown. In this study we aimed to reveal the characteristics of cTnI, assess whether cTnI is a biomarker for cardiomyopathy in these dystrophinopathies, and evaluate the contribution of the ACTN3 genotype to the serum levels of cTnI in DMD patients. Methods: Serum cTnI values obtained from 127 DMD and 47 BMD patients were analyzed retrospectively. The relationship between cTnI and echocardiography data or the ACTN3 XX genotype was assessed. Results: The cTnI levels and proportion of patients with abnormal cTnI levels were significantly higher among DMD patients than BMD, especially in the second decade of life. In DMD, the cTnI level reached a maximum at 13 years, and left ventricular ejection fraction (LVEF) became abnormal approximately 1 year subsequently. In BMD, the cTnI level peaked at the age of 14 years, and LVEF became abnormal 3 years later. Decreased LVEF was observed after cTnI elevation in both populations. cTnI levels by age in DMD patients with the ACTN3 XX genotype tended to increase significantly and early. Discussion: Myocardial injury indicated by cTnI elevation was more common and severe in DMD patients. cTnI elevation preceding cardiac dysfunction may represent an early phase of cardiomyopathy progression and may be a biomarker for early detection of cardiomyopathy in these dystrophinopathies. The ACTN3 XX genotype may be a risk factor for early myocardial injury. [ABSTRACT FROM AUTHOR]

Abstract Objects We investigated the association of ACE I/D and ACTN3 R577X polymorphisms with the performance of Chinese elite female soccer athletes for the first time. Material and methods The genotype distributions of ACE I/D and ACTN3 R577X in the athlete group and the control group of Chinese females were evaluated via PCR and compared. VO2max value was tested as per standard protocol. Results Regarding the distribution of ACE polymorphisms, the genotype frequency was indifferent between the athletes (II 40 %, ID 46.7 %, DD 13.3 %) and the controls (II 42 %, ID 48 %, DD 10 %). No difference in the I/D allele frequency was observed between the athlete group and the control group. Regarding the distribution of ACTN3 polymorphisms, the genotype frequency was significantly different between the athletes (XX 0 %, XR 53.3 %, RR 46.7 %) and the controls (XX 16 %, XR 44 %, RR 40 %). The allele frequency was observed no different between the athlete and the control group. The ACE ID and ACTN3 RR genotype combination was associated with higher VO2max values among defenders than among other players. According to VO2max values,The ACE and ACTN3 genotype combinations (II/ID/DD + RR/XR) significantly differed between the athletes and the controls (p

Facial asymmetry is a feature that occurs to a greater or lesser extent in the general population. As its severity is usually slight, facial asymmetry may not be noticeable to the patient. However, there are cases when severe facial asymmetry not only affects the facial aesthetics by distorting facial proportions, but also contributes to problems related to the function of the stomatognathic system. The nodal signalling pathway appears to be of particular importance in the process of mandibular asymmetry, as it affects not only structures formed from the first pharyngeal arch, but also other organs, such as the heart and lungs. Following the evaluation of the available literature, the inheritance of mandibular asymmetry is a very complex and multifactorial process, and the genes whose altered expression appears to be a more important potential aetiological factor for asymmetry include PITX2, ACTN3, ENPP1 and ESR1. This systematic review attempts to systematise the available literature concerning the impact of signalling pathway disruption, including the disruption of the nodal signalling pathway, on the development of mandibular asymmetry. [ABSTRACT FROM AUTHOR]

In this study, actinin-3 (ACTN3) gene expression was investigated in relation to the feed efficiency phenotype in Bos indicus - Bos taurus crossbred steers. A measure of relative feed efficiency based on residual feed intake relative to predictions from the NRC beef cattle model was analyzed by the use of a mixed linear model that included sire and family nested within sire as fixed effects and age, animal type, sex, condition, and breed as random effects for 173 F2 Nellore-Angus steers. Based on these residual intake observations, individuals were ranked from most efficient to least efficient. Skeletal muscle samples were analyzed from 54 steers in three groups of 18 (high efficiency, low efficiency, and a statistically average group). ACTN3 , which encodes a muscle-specific structural protein, was previously identified as a candidate gene from a microarray analysis of RNA extracted from muscle samples obtained from a subset of steers from each of these three efficiency groups. The expression of ACTN3 was evaluated by quantitative reverse transcriptase PCR analysis. The expression of ACTN3 in skeletal muscle was 1.6-fold greater in the inefficient steer group than in the efficient group (p = 0.007). In addition to expression measurements, blocks of SNP haplotypes were assessed for breed or parent of origin effects. A maternal effect was observed for ACTN3 inheritance, indicating that a maternal B. indicus block conferred improved residual feed efficiency relative to the B. taurus copy (p = 0.03). A SNP haplotype analysis was also conducted for m-calpain (CAPN2) and fibronectin 1 (FN1), and a significant breed effect was observed for both genes, with B. indicus and B. taurus alleles each conferring favorable efficiency when inherited maternally (p = 0.03 and p = 0.04). Because the ACTN3 structural protein is specific to fast-twitch (type II) muscle fibers and not present in slow-twitch muscle fibers (type I), muscle samples used for expression analysis were also assayed for fiber type ratio (type II/type I). Inefficient animals had a fast fiber type ratio 1.8-fold greater than the efficient animals (p = 0.027). Because these fiber-types exhibit different metabolic profiles, we hypothesize that animals with a greater proportion of fast-twitch muscle fibers are also less feed efficient. [ABSTRACT FROM AUTHOR]

Abstract Aim: This study analyzed the influences of ACE and ACTN3 gene variants in sprinters, jumpers, and endurance young athletes of track and field. Methods: 36 school-level competitors of both sex (15 girls and 21 boys; aged 16.4 ± 1.2 years; training experience 4 ± 1.2 years) practitioners of different sport disciplines (i.e., sprint, jump, and endurance athletes) participated in the study. The deoxyribonucleic acid (DNA) was extracted from peripheral blood using a standard protocol. Anthropometric measurements, 30 m sprint, squat jump (SJ), and maximal oxygen uptake (VO2max) tests were measured. Results: Genotype distribution of the ACE and ACTN3 genes did not differ between groups. In ACE DD and ACTN3 RX genotypes, the SJ test was bigger in sprinters and jumpers than in the endurance runners. In contrast, when analyzing the ACE ID genotype, sprinters had higher SJ than endurance athletes. Moreover, in the ACE DD genotype, the sprinters and jumpers’ athletes had lower time in 30 m tests compared to endurance runners. However, the ACE ID and ACTN3 RX genotypes was greater aerobic fitness in endurance runners than in jumpers’ athletes. Conclusion: Although the genetic profile is not a unique factor for determining athletic performance, the ACE DD and ACTN3 RX genotypes seem to favor athletic performance in power and sprint versus endurance sports. Thus, this study evidenced that assessing genetic variants could be used as an auxiliary way to predict a favorable profile for the identification of young talents of track and field.

This study aimed to investigate if ACTN3 gene polymorphism impacts the susceptibility to exercise-induced muscle damage (EIMD) and changes in running economy (RE) following downhill running. Thirty-five healthy men were allocated to the two groups based on their ACTN3 gene variants: RR and X allele carriers. Neuromuscular function [knee extensor isometric peak torque (IPT), rate of torque development (RTD), and countermovement, and squat jump height], indirect markers of EIMD [muscle soreness, mid-thigh circumference, knee joint range of motion, and serum creatine kinase (CK) activity], and RE (oxygen uptake, minute ventilation, blood lactate concentration, and perceived exertion) for 5-min of running at a speed equivalent to 80% of individual maximal oxygen uptake speed were assessed before, immediately after, and 1–4 days after a 30-min downhill run (−15%). Neuromuscular function was compromised (P < 0.05) following downhill running with no differences between the groups, except for IPT, which was more affected in the RR individuals compared with the X allele carriers immediately (−24.9 ± 6.9% vs. −16.3 ± 6.5%, respectively) and 4 days (−16.6 ± 14.9% vs. −4.2 ± 9.5%, respectively) post-downhill running. EIMD manifested similarly for both the groups except for serum CK activity, which was greater for RR (398 ± 120 and 452 ± 126 U L–1 at 2 and 4 days following downhill running, respectively) compared with the X allele carriers (273 ± 121 and 352 ± 114 U L–1 at the same time points). RE was compromised following downhill running (16.7 ± 8.3% and 11 ± 7.5% increases in oxygen uptake immediately following downhill running for the RR and X allele carriers, respectively) with no difference between the groups. We conclude that although RR individuals appear to be more susceptible to EIMD following downhill running, this does not extend to the changes in RE. [ABSTRACT FROM AUTHOR]

This study aimed to investigate if ACTN3 gene polymorphism impacts the susceptibility to exercise-induced muscle damage (EIMD) and changes in running economy (RE) following downhill running. Thirty-five healthy men were allocated to the two groups based on their ACTN3 gene variants: RR and X allele carriers. Neuromuscular function [knee extensor isometric peak torque (IPT), rate of torque development (RTD), and countermovement, and squat jump height], indirect markers of EIMD [muscle soreness, mid-thigh circumference, knee joint range of motion, and serum creatine kinase (CK) activity], and RE (oxygen uptake, minute ventilation, blood lactate concentration, and perceived exertion) for 5-min of running at a speed equivalent to 80% of individual maximal oxygen uptake speed were assessed before, immediately after, and 1–4 days after a 30-min downhill run (−15%). Neuromuscular function was compromised (P < 0.05) following downhill running with no differences between the groups, except for IPT, which was more affected in the RR individuals compared with the X allele carriers immediately (−24.9 ± 6.9% vs. −16.3 ± 6.5%, respectively) and 4 days (−16.6 ± 14.9% vs. −4.2 ± 9.5%, respectively) post-downhill running. EIMD manifested similarly for both the groups except for serum CK activity, which was greater for RR (398 ± 120 and 452 ± 126 U L–1 at 2 and 4 days following downhill running, respectively) compared with the X allele carriers (273 ± 121 and 352 ± 114 U L–1 at the same time points). RE was compromised following downhill running (16.7 ± 8.3% and 11 ± 7.5% increases in oxygen uptake immediately following downhill running for the RR and X allele carriers, respectively) with no difference between the groups. We conclude that although RR individuals appear to be more susceptible to EIMD following downhill running, this does not extend to the changes in RE.

BackgroundSpondyloarthritis (SpA) are the most common group of chronic inflammatory rheumatic diseases affecting about 1.5% of the adult Caucasian population. Low back pain is the most common symptom. The aetiopathogenesis of SpA is multifactorial, with well-known genetic and environmental contributions. Furthermore, muscle properties might also be involved in the pathophysiological process and these could be modulated by the genetic background. Alpha-actinin-3 (ACTN3) and Vitamin D receptor (VDR) genes are well-known genes related with muscle performance. Our aim was to analyze four SNPs of these genes and to evaluate their influence in axial SpA (axSpA) susceptibility, phenotype and muscle properties.MethodsWe performed a pilot study based on case-control approach involving 56 participants: 28 axSpA patients and 28 healthy controls matched by age, gender and levels of physical activity. Clinical, epidemiological and muscle characterization data—muscle physical properties (stiffness, tone, and elasticity), strength, mass, and performance, were collected. Two different muscles were considered for analysis, the Multifidus and Gastrocnemius. Four SNPs of ACTN3 (rs1815739) and VDR (rs2228570, rs731236, and rs7975232), were selected, analyzed and correlated with clinical, epidemiological and muscle characterization data.ResultsIn total, 51 individuals (27 axSpA patients and 24 matched controls) were eligible for further genetic analysis, 66.7% being male and with a mean age of 36 years. Muscle physical properties, muscle strength and muscle mass were similar in both groups; however, axSpA patients showed a decrease in muscle performance. None of the studied SNPs were associated with disease susceptibility/phenotype, muscle physical properties, muscle strength or muscle mass. However, ACTN3 rs1815739 and VDR rs2228570 were shown to be associated with muscle performance.ConclusionOur results suggest an association between ACTN3 and VDR polymorphisms and muscle performance in axSpA.

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Background: Spondyloarthritis (SpA) are the most common group of chronic inflammatory rheumatic diseases affecting about 1.5% of the adult Caucasian population. Low back pain is the most common symptom. The aetiopathogenesis of SpA is multifactorial, with well-known genetic and environmental contributions. Furthermore, muscle properties might also be involved in the pathophysiological process and these could be modulated by the genetic background. Alpha-actinin-3 (ACTN3) and Vitamin D receptor (VDR) genes are well-known genes related with muscle performance. Our aim was to analyze four SNPs of these genes and to evaluate their influence in axial SpA (axSpA) susceptibility, phenotype and muscle properties. Methods: We performed a pilot study based on case-control approach involving 56 participants: 28 axSpA patients and 28 healthy controls matched by age, gender and levels of physical activity. Clinical, epidemiological and muscle characterization data—muscle physical properties (stiffness, tone, and elasticity), strength, mass, and performance, were collected. Two different muscles were considered for analysis, the Multifidus and Gastrocnemius. Four SNPs of ACTN3 (rs1815739) and VDR (rs2228570, rs731236, and rs7975232), were selected, analyzed and correlated with clinical, epidemiological and muscle characterization data. Results: In total, 51 individuals (27 axSpA patients and 24 matched controls) were eligible for further genetic analysis, 66.7% being male and with a mean age of 36 years. Muscle physical properties, muscle strength and muscle mass were similar in both groups; however, axSpA patients showed a decrease in muscle performance. None of the studied SNPs were associated with disease susceptibility/phenotype, muscle physical properties, muscle strength or muscle mass. However, ACTN3 rs1815739 and VDR rs2228570 were shown to be associated with muscle performance. Conclusion: Our results suggest an association between ACTN3 and VDR polymorphisms and muscle performance in axSpA. [ABSTRACT FROM AUTHOR]

The combined model of testing the athletes encompasses the assessment of basic motor skills, psychological stress testing, and genetic testing, whereby genetic predisposition is important for determining the athletes’ predisposition for specific disciplines and risk of sports-related injuries. The insertion/deletion (I/D) allele of the angiotensin-converting enzyme gene (ACE) (rs1799752) is one of the most studied polymorphisms, with the I allele linked to enhanced performance in runners and rowers and generally in disciplines requiring endurance, while the D allele is associated with sports requiring strength and power. The ACTN3 (alpha-actinin-3) rs1815739 polymorphism is linked to athletic performance, with the 577R allele associated with lower risk of training-related injuries and a better response to intensive exercises and training process, while the 577X variant is found in fewer athletes and is associated with increased likelihood of injuries due to intensive training process, thus requiring additional caution. We are hereby presenting the first results of genetic testing of 32 young Alpine skiers over these two genetic polymorphisms. DNA isolation from whole blood samples was done using the PureLink™ Genomic DNA Mini kit, followed by amplification of target polymorphisms using real-time PCR with TaqMan SNP assays. Regarding ACTN3 genotypes, 58.1% of successfully analyzed participants were C/C homozygotes (577RR), 32.3% were T/C heterozygotes (577RX), and 9.7% were T/T homozygotes (577XX). The results were inconclusive for one participant. Regarding ACE testing, 25 participants were successfully genotyped and none of them carried Alu sequence (i.e., all participants were D/D homozygotes). The results of genetic testing could serve as valuable guidance for optimizing training based on the obtained results, potentially reducing the frequency of athletes’ injuries. [ABSTRACT FROM AUTHOR]

Abstract Background There are large individual differences in physical activity (PA) behavior as well as trainability of physical capacity. Heritability studies have shown that genes may have as much impact on exercise participation behavior as environmental factors. Genes that favor both trainability and participation may increase the levels of PA. The present study aimed to assess the allele frequencies in genes associated with PA and/or physical capacity, and to see if there is any association between these polymorphisms and self-reported PA levels in a cohort of middle-aged Norwegians of Scandinavian descent (n = 831; mean age mean age (± SD) 55.5 ± 3.8 years). Results The genotype distributions of the ACTN3 R577X, ACE I/D and MAOA uVNTR polymorphisms were similar to other populations of European descent. When comparing the genotype distribution between the low/medium level PA group (LMPA) and high level PA groups (HPA), a significant difference in ACTN3 577X allele distribution was found. The X allele frequency was 10% lower in the HPA level group (P = 0.006). There were no differences in the genotype distribution of the ACE I/D or MAOA uVNTR polymorphism. Education and previous participation in sports or outdoor activities was positively associated with the self-reported PA levels (P ≤ 0.001). Conclusions To the best of our knowledge, this is the first study to report association between ACTN3 R577X genotype and PA level in middle-aged Scandinavians. Nevertheless, the contribution of a single polymorphism to a complex trait, like PA level, is likely small. Socioeconomic variables, as education and previous participation in sports or outdoor activities, are positively associated with the self-reported PA levels.

Abstract Background During the process of acclimatization, when our organism needs to adjust several metabolic processes in the attempt of establishing a better oxygenation, it is normal that individuals present some symptoms that can lead to the disease of the mountain. However, not everyone presents such symptoms and individuals native of high altitudes regions present genetic differences compared to natives of low altitudes which can generate a better acute adaptation. One of these differences is the higher proportion of type I muscle fibers, which may originate from the R577X polymorphism of the ACTN3 gene. The aim of this study was to compare the response of individuals with different ACTN3 genotypes at simulated 4500 m altitude on the presence of Acute Mountain Sickness (AMS) symptoms. Twenty-three volunteers (RR = 7, RX = 8, XX = 8) spent 4 hours exposed to a simulated altitude of 4500 m inside a normobaric hypoxia chamber. Lactate and glucose concentrations, SpO2, heart rate and the symptoms of AMS were analyzed immediately before entering the chamber and at each hour of exposure. Statistical analysis was performed using IBM SPSS Statistics 21 software. Results Our results point to an association between AMS symptoms and the presence of R allele from R577X polymorphism. Conclusion We conclude that individuals with at least one R allele of the R577X polymorphism seems to be more susceptible to the effects of hypoxia during the acclimatization process and may develop AMS symptoms.

Background. Soccer, combat sports and motorcycling have all been classified as mixed in terms of their metabolism predominance thus showing a common multifaceted nature of physical requirements, which include aerobic capacity, strength, endurance, power and agility. Objectives. The aim of the current study was to compare allelic and genotype frequencies of four well-known polymorphisms among athletes from different mixed sport disciplines in order to investigate genetic markers suitable for distinguishing the predominant components of these sports. Methods. Genotyping for the angiotensin-converting enzyme (ACE) insertion/deletion (I/D), α-actinin-3 (ACTN3) R577X, muscle‐specific creatine kinase (CK-MM) A/G and peroxisome proliferator-activated receptor alpha (PPARα) G/C polymorphisms among 113 professional athletes from motorcycling, soccer and combat sports was performed by PCR-RFLP method. Results. We found that the G allele of the PPARα polymorphism was significantly (p

Introducción. El estudio de variables antropométricas y genéticas son fundamentales como determinantes del rendimiento deportivo. Objetivo. El objetivo del estudio fue determinar el somatotipo y la frecuencia de genotipo y alelo de 𝜶-actinina 3 (ACTN3) R577X y enzima convertidora de angiotensina (ECA) I/D polimorfismo de jugadores de tenis de mesa chilenos. Método. Se estudiaron 24 tenimesistas varones (edad 22,1 ± 5,4) del ranking nacional de Chile. La obtención de ACTN3 y ECA se recogió por muestra la saliva y se analizaron mediante reacción cadena de la polimerasa convencional. La estructura corporal se caracterizó a través del método del somatotipo propuesto por Carter. A partir de estadísticas descriptiva, se analizaron los valores medios de somatotipo, frecuencia de clasificación y ubicación de somato carta, además, de valores de frecuencia de genotipo y alelo de ACTN3 R/X y ECA I/D polimorfismo de acuerdo con número de aparición y porcentaje.Resultados. Se evidenció un predominio de clasificación mesoendomórfica y endomesomórfica, una mayor frecuencia fenotípica XX con predominio de alelo X para el gen ACTN3 y mayor frecuencia DI con predominio de alelo D para ECA. Conclusión. El somatotipo de tenimesistas chilenos tiene una orientación hacia mesoendomorfía y un predominio XX y alelo X del gen ACTN3 y, predominio del genotipo DI y alelo D del gen ECA, estas características podrían ofrecer una ventaja genética en cuanto a niveles de fuerza y potencia muscular, posiblemente facilitando la práctica y el éxito competitivo en estos tenimesistas chilenos. Abstract. Introduction. The study of anthropometric and genetic variables are essential as determinants of sports performance. Objective. The objective of the study was to determine the somatotype and the frequency of genotype and allele of 𝜶-actinin 3 (ACTN3) R577X and angiotensin converting enzyme (RCT) I / D polymorphism of Chilean table tennis players. Method. 24 male table tennis players (age 22.1 x 5.4) of Chile's national rankings were studied. Obtaining ACTN3 and ACE was collected by sample of saliva and analyzed by polymerase chain in real time. The body structure was characterized through the somatotype method proposed by Carter. From descriptive statistics, the mean values of somatotype, frequency of classification and location of somato letter were analyzed, in addition, of genotype frequency values and allele of ACTN3 R/X and ECA I/D polymorphism according to number of occurrence and percentage. Results. It demonstrated a predominance of mesoendomorphy and endomorphy classification, a higher phenotypic frequency XX with predominance of allele X for the ACTN3 gene and higher frequency of DI allele with predomina D for ACE. Conclusion. The somatotype of Chilean tenimestists has an orientation towards mesoendomorphy and a predominance of the genotype XX and allele X of the ACTN3 gene and, predominance of the DI genotype and allele D of the ACE gene, these characteristics could offer a genetic advantage in terms of strength levels and muscle potency, possibly facilitating practice and competitive success in these Chilean tenimists.

2021—Israeli long-distance runners of Ethiopian origin have a major influence on the track and field long-distance record table. The aim of this study was to determine whether genetic characteristics contribute to this long-distance dominance. We assessed polymorphisms in genes related to endurance (PPARD T/C), endurance trainability (ACSL A/G), speed (ACTN3 R/X), strength (AGT T/C), and the recovery from training (MTC1 A/T and IL6 G/C) among top Israeli long-distance runners of Ethiopian origin (n = 37), Israeli non-Ethiopian origin runners of Caucasian origin (n = 76), and Israeli nonathletic controls (n = 55). Israeli runners of Ethiopian origin had a greater frequency of the PPARD CC + PARGC1A Gly/Gly polymorphism, associated with improved endurance performance, compared with Israeli runners of non-Ethiopian origins (24 vs. 3%, respectively, p, 0.01); a lower frequency of the ACSL AA polymorphism, favoring endurance trainability (8 vs. 20%, respectively, p, 0.05); a greater frequency of the ACTN3 RR polymorphism, associated with sprint performance (35 vs. 20%, respectively, p, 0.05); a greater frequency of the MCT1 AA genotype, associated with improved lactate transport (65 vs. 45%, respectively, p, 0.05); and a lower frequency of IL-6 174C carriers, associated with reduced postexercise muscle damage (27 vs. 40%, respectively, p, 0.01). There was no difference in the frequency of AGT T/C gene polymorphism between the long-distance runners of Ethiopian and non-Ethiopian origin. Frequencies of PPARD CC + PARGC1A Gly/Gly, MCT1 AA, IL-6 174C, and AGT polymorphism were significantly favorable among Ethiopian, but not among non- Ethiopian, origin runners compared with controls. Taken together, results suggest that genetically, the dominance of Israeli long-distance runners of Ethiopian origin relates not only to endurance polymorphisms but also to polymorphisms associated with enhanced speed performance and better training recovery ability. [ABSTRACT FROM AUTHOR]

Objects: We investigated the association of ACE I/D and ACTN3 R577X polymorphisms with the performance of Chinese elite female soccer athletes for the first time. Material and methods: The genotype distributions of ACE I/D and ACTN3 R577X in the athlete group and the control group of Chinese females were evaluated via PCR and compared. VO2max value was tested as per standard protocol. Results: Regarding the distribution of ACE polymorphisms, the genotype frequency was indifferent between the athletes (II 40 %, ID 46.7 %, DD 13.3 %) and the controls (II 42 %, ID 48 %, DD 10 %). No difference in the I/D allele frequency was observed between the athlete group and the control group. Regarding the distribution of ACTN3 polymorphisms, the genotype frequency was significantly different between the athletes (XX 0 %, XR 53.3 %, RR 46.7 %) and the controls (XX 16 %, XR 44 %, RR 40 %). The allele frequency was observed no different between the athlete and the control group. The ACE ID and ACTN3 RR genotype combination was associated with higher VO2max values among defenders than among other players. According to VO2max values,The ACE and ACTN3 genotype combinations (II/ID/DD + RR/XR) significantly differed between the athletes and the controls (p < 0.05). Conclusion: These results suggested that the Chinese elite female soccer athletes were more likely to harbor the I allele and the R allele and that the combination of ACE II/ID and ACTN3 RR/XR was a synergetic determinant of the athletic performance of females in soccer. [ABSTRACT FROM AUTHOR]

Despite strong evidence of an inheritable component of muscle phenotypes, little progress has been made in identifying the specific genetic factors involved in the development of sarcopenia. Even rarer are studies that focus on predicting the risk of sarcopenia based on a genetic risk score. In the present study, we tested the single and combined effect of seven candidate gene variants on the risk of sarcopenia. Single nucleotide polymorphisms in candidate genes were genotyped using the KASP assay. We examined 190 older adults that were classified as non-sarcopenic or sarcopenic according to the diagnostic criteria of the European Working Group on Sarcopenia in Older People. Sarcopenia was associated with Methylenetetrahydrofolate reductase, Alpha-actinin-3, and Nuclear respiratory factor 2 genotypes. The combined effect of all three polymorphisms explained 39% of the interindividual variation in sarcopenia risk. Our results suggest that the single and combined effect of Methylenetetrahydrofolate reductase, Alpha-actinin-3, and Nuclear respiratory factor 2 polymorphism is associated with sarcopenia risk in older adults. Nowadays, as the population is getting older and older, great efforts are being made to research the etiology, diagnosis and treatment of sarcopenia. At the same time, small progress has been made in understanding the genetic etiology of sarcopenia. Given the importance of research on this disease, further genetic studies are needed to better understand the genetic risk underlying sarcopenia. We believe that this small-scale study will help to demonstrate that there is still much to be discovered in this field.

Facial asymmetry is a feature that occurs to a greater or lesser extent in the general population. As its severity is usually slight, facial asymmetry may not be noticeable to the patient. However, there are cases when severe facial asymmetry not only affects the facial aesthetics by distorting facial proportions, but also contributes to problems related to the function of the stomatognathic system. The nodal signalling pathway appears to be of particular importance in the process of mandibular asymmetry, as it affects not only structures formed from the first pharyngeal arch, but also other organs, such as the heart and lungs. Following the evaluation of the available literature, the inheritance of mandibular asymmetry is a very complex and multifactorial process, and the genes whose altered expression appears to be a more important potential aetiological factor for asymmetry include PITX2, ACTN3, ENPP1 and ESR1. This systematic review attempts to systematise the available literature concerning the impact of signalling pathway disruption, including the disruption of the nodal signalling pathway, on the development of mandibular asymmetry.

The aim of this study was to determine the distribution of ACTN3 R577X gene polymorphism in soccer players and sedentary individuals, and to investigate the relationship of this distribution with performance tests. A total of 100 soccer players and 101 sedentary individuals were enrolled in the study. Standing long jump and countermovement jump (with arm swing, without arm swing and repeated) scores were recorded, using a jump meter. Maximum VO 2 levels were measured using a treadmill-connected cardiopulmonary exercise device, Masterscreen CPX. ACTN3 R577X polymorphism was evaluated by real-time PCR. ACTN3 R577X genotype distribution was found to be similar in soccer players and controls (p>0.05). The only statistically significant finding was a shorter countermovement jump with arm swing scores in the RR-genotyped soccer players, compared with their RX genotyped counterparts (p

Despite strong evidence of an inheritable component of muscle phenotypes, little progress has been made in identifying the specific genetic factors involved in the development of sarcopenia. Even rarer are studies that focus on predicting the risk of sarcopenia based on a genetic risk score. In the present study, we tested the single and combined effect of seven candidate gene variants on the risk of sarcopenia. Single nucleotide polymorphisms in candidate genes were genotyped using the KASP assay. We examined 190 older adults that were classified as non-sarcopenic or sarcopenic according to the diagnostic criteria of the European Working Group on Sarcopenia in Older People. Sarcopenia was associated with Methylenetetrahydrofolate reductase, Alpha-actinin-3, and Nuclear respiratory factor 2 genotypes. The combined effect of all three polymorphisms explained 39% of the interindividual variation in sarcopenia risk. Our results suggest that the single and combined effect of Methylenetetrahydrofolate reductase, Alpha-actinin-3, and Nuclear respiratory factor 2 polymorphism is associated with sarcopenia risk in older adults. Nowadays, as the population is getting older and older, great efforts are being made to research the etiology, diagnosis and treatment of sarcopenia. At the same time, small progress has been made in understanding the genetic etiology of sarcopenia. Given the importance of research on this disease, further genetic studies are needed to better understand the genetic risk underlying sarcopenia. We believe that this small-scale study will help to demonstrate that there is still much to be discovered in this field. [ABSTRACT FROM AUTHOR]

The research tried to discover/find out [1] whether the success of transformation of max muscle power will be just because of the training sessions? Or perhaps [2] the genetic potential of examinees will be important to make bigger and faster transformation of max muscular power. The experimental program was applied within (N) 21 examinees, age of 18-20 years, non-athlete population, for a period of 6 weeks. The programme included exercises for transformation of the maximal strength component of the flexors and extensors muscles on the elbow of the examinees' non-dominant arm (load- 90-95% of one repetition maximum). Three tests for one repetition maximum (flexion+ extension) were performed (program start, 3th and 6th week). Mutation of ACTN3 genotype allele, of the examinees, were analysed, according to establish three types of examinees: (type I) slow-oxidative - XX type/group, (type IIA) fast oxidative/glycolytic RX type/group and (type IIB) fast glycolytic -RR type/group. The three groups of examinees (XX, RR, XR) do not differ in terms of the achievements of one repetition maximum (flexors/extensors) after 3th and after 6th week. The genetic predisposition of the muscle tissue for strength capacities is not always decisive for the transformation of the maximal strength abilities. [ABSTRACT FROM AUTHOR]