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8 results on '"ACTN3 GENOTYPE"'

1. Genetics of long-distance runners and road cyclists - a systematic review with meta-analysis

Subjects
genetic variant, CONVERTING-ENZYME GENE, IL6 GENE, PUBLICATION BIAS, C ALLELE, endurance athletes, DNA, sport genetics, polymorphism, ATHLETIC STATUS, RENIN-ANGIOTENSIN SYSTEM, predisposition, ACTN3 GENOTYPE, C825T POLYMORPHISM, RUNNING PERFORMANCE, I/D POLYMORPHISM
Abstract

The aim of this systematic review and meta-analysis was to identify the genetic variants of (inter)national competing long-distance runners and road cyclists compared to controls. The Medline and Embase databases were searched until 15 November 2021. Eligible articles included genetic epidemiological studies published in English. A homogenous group of endurance athletes competing at (inter)national level and sedentary controls were included. Pooled odds ratios based on genotype frequency with corresponding 95% confidence intervals (95%CI) were calculated using random effects models. Heterogeneity was addressed by Q-statistics and I2 . Sources of heterogeneity were examined by meta-regression and risk of bias was assessed with the Clark Baudouin scale. This systematic review comprised of 43 studies including a total of 3938 athletes and 10752 controls in the pooled analysis. Of the 42 identified genetic variants, 13 were investigated in independent studies. Significant associations were found for five polymorphisms. Pooled odds ratio [95%CI] favoring athletes compared to controls was 1.42 [1.12-1.81] for ACE II (I/D), 1.66 [1.26-2.19] for ACTN3 TT (rs1815739), 1.75 [1.34-2.29] for PPARGC1A GG (rs8192678), 2.23 [1.42-3.51] for AMPD1 CC (rs17602729), and 2.85 [1.27-6.39] for HFE GG+CG (rs1799945). Risk of bias was low in 25 (58%) and unclear in 18 (42%) articles. Heterogeneity of the results was low (0-20%) except for HFE (71%), GNB3 (80%), and NOS3 (76%). (Inter)national competing runners and cyclists have a higher probability to carry specific genetic variants compared to controls. This study confirms that (inter)national competing endurance athletes constitute a unique genetic make-up, which likely contributes to their performance level.

Published
2022
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2. Genetics of long-distance runners and road cyclists-A systematic review with meta-analysis

Author

Magdalena Johanna Konopka, Jorn Carlos Maria Leonardus van den Bunder, Gerard Rietjens, Billy Sperlich, Maurice Petrus Zeegers, Brussels Heritage Lab, Physiotherapy, Human Physiology and Anatomy, and Human Physiology and Sports Physiotherapy Research Group

Subjects
genetic variant, Genotype, C ALLELE, Physical Therapy, Sports Therapy and Rehabilitation, sport genetics, White People, polymorphism, Actinin/genetics, Odds Ratio, Humans, Orthopedics and Sports Medicine, Actinin, I/D POLYMORPHISM, CONVERTING-ENZYME GENE, IL6 GENE, PUBLICATION BIAS, Polymorphism, Genetic, Whites, endurance athletes, DNA, ATHLETIC STATUS, RENIN-ANGIOTENSIN SYSTEM, predisposition, Athletes, ACTN3 GENOTYPE, C825T POLYMORPHISM, RUNNING PERFORMANCE
Abstract

The aim of this systematic review and meta-analysis was to identify the genetic variants of (inter)national competing long-distance runners and road cyclists compared with controls. The Medline and Embase databases were searched until 15 November 2021. Eligible articles included genetic epidemiological studies published in English. A homogenous group of endurance athletes competing at (inter)national level and sedentary controls were included. Pooled odds ratios based on the genotype frequency with corresponding 95% confidence intervals (95%CI) were calculated using random effects models. Heterogeneity was addressed by Q-statistics, and I2 . Sources of heterogeneity were examined by meta-regression and risk of bias was assessed with the Clark Baudouin scale. This systematic review comprised of 43 studies including a total of 3938 athletes and 10 752 controls in the pooled analysis. Of the 42 identified genetic variants, 13 were investigated in independent studies. Significant associations were found for five polymorphisms. Pooled odds ratio [95%CI] favoring athletes compared with controls was 1.42 [1.12-1.81] for ACE II (I/D), 1.66 [1.26-2.19] for ACTN3 TT (rs1815739), 1.75 [1.34-2.29] for PPARGC1A GG (rs8192678), 2.23 [1.42-3.51] for AMPD1 CC (rs17602729), and 2.85 [1.27-6.39] for HFE GG + CG (rs1799945). Risk of bias was low in 25 (58%) and unclear in 18 (42%) articles. Heterogeneity of the results was low (0%-20%) except for HFE (71%), GNB3 (80%), and NOS3 (76%). (Inter)national competing runners and cyclists have a higher probability to carry specific genetic variants compared with controls. This study confirms that (inter)national competing endurance athletes constitute a unique genetic make-up, which likely contributes to their performance level.

Published
2022

3. ACTN3 GENOTYPE AND ISOKINETIC CHARACTERISTICS OF THE KNESS OF SOCCER PLAYERS U17.

Author

Handzjska, Eli, Milenkova, Mimoza, and Handjiski, Zoran

Subjects
GENOTYPES, SOCCER players, KNEE anatomy, MUSCLES, PHYSIOLOGY
Abstract

The aims of this study are to determine the ACTN3 genotype and isokinetic characteristics of the knees of soccer players U17.Material and methods: 27 soccer players, aged 16-17 years, were included is this study. The examination was conducted in two days in PZU Kineticus. We determined the ACTN3 genotype from abstracted genomic DNA (RR –speedy muscle fibers, XX-endurance muscle fibers and RX variant – mixed muscle fibers) with taking venous blood and its distribution according with player position. We measured the peak TQ/BW, AG/ANT (H/Q) and deficits in flexion and extension of both knees with isokinetic test on Biodex Pro 4, according with player position. We used descriptive statistics and correlations (p<0.05).Results: The most frequent variant of ACTN3 genotype was RR variant (48,3%), than RX (30%) and XX (26%). The RR variant was mostly represented (57%) in midllefield players and XX variant (37%) in forwards. 59% of players were with insignificant and 41% with significant differences in flexion and extension of both knees, especially in forwards. H/Q of right knee, especially of defenders (67,73%), were above normal values.Discussion: ACTN3 genotype profile could help in process of selection and specialization of young soccer players, suggesting that RR variant of ACTN3 genotype should be mostly presented in forwards. The high H/Q in right knee and mostly represented deficits in flexion of left knee suggested a new strategy and changes in strength training of young soccer players. Conclusions: The distribution of ACTN3 genotype in soccer players was according with the data from the literature, with surprisingly high XX variant in forward players. H/Q of right knee, especially in defenders, was above normal values. The forwards were with the most significant differences between the knees. The most frequent deficits were in flexion, especially in left knee. [ABSTRACT FROM AUTHOR]

Published
2016

4. ACTN3 genotype and modulation of skeletal muscle response to exercise in human subjects.

Author

Norman, Barbara, Esbjörnsson, Mona, Rundqvist, Hakan, Österlund, Ted, Glenmark, Birgitta, and Jansson, Eva

Subjects
SKELETAL muscle physiology, EXERCISE physiology, HYPERTROPHY, GLYCOGEN, LABORATORY mice
Abstract

α-Actinin-3 is a Z-disc protein expressed only in type II muscle fibers. A polymorphism in the ACTN3 gene (R577X) results in lack of α-actinin-3 in XXgenotype. The prevalence of the mutated X-allele is lower among power/sprint oriented athletes compared with controls, indicating that the lack of α-actinin-3 is detrimental in these sports, but a mechanistic link has not been established. Results from Actn3-knockout (KO) mouse model suggest that α-actinin-3 may affect muscle mass and muscle glycogen levels. In the present investigation we examined muscle fiber type composition, cross-sectional fiber area (CSA), and muscle glycogen levels at baseline in 143 human subjects with different ACTN3 genotypes. In addition, hypertrophy signaling and glycogen utilization in response to sprint exercise were studied in a subset of subjects. Glycogen utilization was analyzed in separate pools of type I and type II fibers. No differences in fiber type composition, CSA, or muscle glycogen levels were observed at baseline across theACTN3 genotypes. However, the sprint exercise-induced increase in phosphorylation of mTOR and p70S6k was smaller in XX than in RR+RX (P = 0.03 and P = 0.01, respectively), indicating a less pronounced activation of hypertrophy signaling in XX. Glycogen utilization during sprint exercisevaried across ACTN3 genotypes in type II fibers (P = 0.03) but not in type I fibers (P = 0.38). The present results are in accordance with findings from the KO mice and reinforce the hypothesis that ACTN3 genotype-associated differences in muscle mass and glycogen utilization provide a mechanistic explanation for the modulation of human performance by the ACTN3 genotype. [ABSTRACT FROM AUTHOR]

Published
2014
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5. Distribution of alpha-actinin-3 rs1815739 and angiotensin-1 converting enzyme InDel polymorphisms in Turkish bodybuilders

Author

Murat Dogan, Tolga Polat, Korkut Ulucan, Teoman Akcay, Canan Sercan Dogan, Polat, Tolga, Dogan, Canan Sercan, Dogan, Murat, Akcay, Teoman, Ulucan, Korkut, and İstinye Üniversitesi, Hastane

Subjects
Genetics, Athletes, General Neuroscience, Angiotensin-converting enzyme, Single-nucleotide polymorphism, General Medicine, Articles, Biology, biology.organism_classification, GENE, General Biochemistry, Genetics and Molecular Biology, fitness, single nucleotide polymorphism, Genetic variation, Genotype, biology.protein, sports genetics, bodybuilder, genetics, ACTN3 GENOTYPE, General Pharmacology, Toxicology and Pharmaceutics, Allele, XX Genotype, Indel, polymorphisms
Abstract

The determination of the genetic profiles of successful athletes and the effects of these genetic parameters on athletic performance is gaining increasing interest. The majority of studies assessing the genetics of athletes usually analyse the most well-known genetic variations in athletes associated with the different specialties. The aim of the present study was to analyse the ACE InDel and ACTN3 rs1815739 polymorphisms in Turkish bodybuilders. A total of 11 male bodybuilders were recruited and genotyped for these polymorphisms. The respective percentage of the ACE II, ID and DD genotypes were 18, 73 and 9. For the ACTN3 genotype, the respective frequencies were 55 and 45 for the RX and RR genotypes. No XX genotype was detected. The allelic counts were 12 (55%) for I and 10 (45%) for the D alleles of ACE; and 12 (55%) and 10 (45%) for R and X alleles, respectively, for the ACTN3 genotype. Additionally, 5 athletes had ID + RX genotypes in terms of ACE InDel and ACTN3 rs1815739 polymorphisms, respectively. These results indicate the importance of endurance related alleles of ACE and ACTN3 in bodybuilders. The results of the present are in agreement with previous studies, highlighting a potential association between specific polymorphisms and the endurance-related nature of bodybuilders. Further studies with larger cohorts are required to understand the association between these polymorphisms and specific parameters performance in bodybuilders. WOS:000595451200008 33149911

Published
2020

6. ACE and ACTN3 Genes and Muscle Phenotypes in Nonagenarians.

Author

Bustamante-Ara, N., Santiago, C., Verde, Z., Yvert, T., Gómez-Gallego, F., Rodríguez-Romo, G., González-Gil, P., Serra-Rexach, J. A., Ruiz, J. R., and A.

Subjects
*GENETIC polymorphisms, *PHENOTYPES, *MUSCLES, *GENOTYPE-environment interaction, *GENES, *MUSCLE strength
Abstract

We studied the association of ACE and ACTN3 polymorphisms with skeletal muscle phenotypes (i.e. upper and lower body muscular strength and functional tests) in Spanish nonagenarian subjects [n=41, 33 women, 8 men, age: 90-97 years]. Mean values of the study phenotypes were not significantly different (all P>0.05) between ACE and ACTN3 genotypes. The analyses of the combined effects between genotypes (ACE DD & ACTN3 RR/RX vs. ACE II/ID & ACTN3 XX) did not yield any significant difference. Our data suggest that, in the elderly, the influence of genetic factors on muscle phenotype traits is not reducible to a Few single polymorphisms, including ACE and ACTN3 variants. [ABSTRACT FROM AUTHOR]

Published
2010
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