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The alpha-actinin-3 R577X polymorphism and physical performance in soccer players

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
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The alpha-actinin-3 R577X polymorphism and physical
performance in soccer players



THE JOURNAL OF SPORTS MEDICINE AND PHYSICAL FITNESS




THEALPHAACTININ3R577XPOLYMORPHISMANDPHYSICALPERFORMANCEIN
SOCCERPLAYERS
D. Coelho1, E. Pimenta2, I. Rosse3, C. Veneroso3, L. Becker1, M. R. Carvalho4, G.pussieldi5, E.    
SilamiGarcia3
1DesportiveCenterofFederalUniversityofOuroPreto,OuroPreto,Brazil
2DepartmentofBiomedicalSciences,UniversityofLeon,Leon,Spain.
3Sports Department, School of Physical Education, Physiotherapy and Occupational Therapy, Federal    
UniversityofMinasGerais,BeloHorizonte,Brazil.
4Department of General Biology, Laboratory of Human and Medical Genetics,– Institute of Biological
Sciences–FederalUniversityofMinasGerais,BeloHorizonteBrazil.
5Physical Education Department, Federal University of Viçosa – Campus Florestal, Florestal, Minas    
Gerais,Brazil.
Congresses: Presented at the 61th Annual Meeting and4th World Congress on Exercise is Medicineof 
theAmericanCollegeofSportsMedicine,May28June1,2014.
Funding: National Committee for Scientific and Technological Development (Conselho Nacional de   
Desenvolvimento Científico e Tecnológico [CNPq]), Coordination and Improvement of Superior   
Education Staff (Coordenação de Aperfeiçoamento de Pessoal de Nível Superior [CAPES]), Foundation    
for Support to Research in the State of Minas Gerais (Fundação de Amparo à Pesquisa do Estado de  
1
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Minas Gerais (FAPEMIG)  and ProRectory of Research of the Federal University of Minas Gerais     
(PróReitoriadePesquisadaUniversidadeFederaldeMinasGerais(PRPQUFMG)),
Conflictsofinterest:Theauthorshavenoconflictofinteresttodeclarewithregardtothepresentwork.
Acknowledgements: To the laboratory São Sebastião (Cel Fabriciano, MG) and laboratory management 
EliasJosédeSalesFilhoandlaboratorytechincalMarcileneHonoratoPiresbythClinicalanalyses.
Corresponding Author: D. Coelho, Frei Orlando avenue, 1035\302, Caicara, Belo Horizonte, Minas  
Geraisstate,Brazil.Email:danielcoelhoc@gmail.com.
2
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Abstract
The aim of this study was to investigate the association between ACTN3 genotype (RR, RX, and XX) and     
physical performance of 138 adult, professional, U20 and U17 years Brazilian firstdivision soccer players.      
The following three parameters were investigated: first, speed, using a 30m sprint test with speed measured at       
10 m, 20 m, and 30 m second, muscular strength, using countermovementjump and squat jump tests and     
third, aerobic endurance using the YoYo endurance test. The athletes were ranked in ascending order  
according to their performance in each test. after which they were divided into quartiles and clustered according       
to genotype and allele frequency. The X2was used to compare the genotype frequencies (RR, RX and RR) and 
allele frequencies (R and X) within and between the different quartiles of performance rating. No significant 
differences were observed in genotypic or allelic frequencies between different performance ratings. The   
ACTN3 genotype was not associated to any of the physical performance parameters. This information should  
be noted with care, because, besides physical capacity, there are other factors, like tactical knowledge, that  
interferewithperformanceinsport,consideringthatexpertiseismultifactorial.
Keywords:SoccerACTN3PerformanceStrengthAerobiccapacity
3
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part of the Article for any Commercial Use is not permitted. The cr eation of derivativ e works from the Article is not permitted. The production of reprints for personal or commercial use is not
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Introduction
Soccer has a worldwide audience and can be played by people of both genders and all ages around the     
world.1During a soccer match, a player covers a distance of 8–12 km by movements that range from walking  
to running at maximum speed.2The aerobic energy pathway predominates during the long game, but exertions    
that lead to the final movements, such as sprints, jumps, heading, dribbling, and shots on goals, have     
anaerobic.3Due to these characteristics, soccer may be classified as an intermittent and high energy activity.4
    
Therefore, soccer players should be aerobically well trained and possess significant strength and speed in order  
toperformathighlevels.5
The maximal oxygen uptake and strength are important physical capacities in soccer player. The Yoyo  
test, is a standard test to evaluated the aerobic performance on soccer6,7 and anaerobic performance is measure       
byspeedandjumpingtests.8
Field tests are closer to the athlete's reality, as they are carried out movements similar to those    
implemented in the game. In addition, this type of test is more motivational in comparison with laboratory     
situation.9
In recent times, there has been a suggestion of a possible natural selection for highperformance sports   
according to the predominance of aerobic or anaerobic capacity, strength, or resistance10, or as in the case of       
soccer, all of these.11,12,13A successful sports career has been associated with the expression of certain genes that 
caninfluencephysicalability.14,15,16,17,18However,somestudiesdidnotobservethisassociation.19,20
Among the several genes related to sports performance21, the gene encoding the alfaactinin3 ACTN3    
is one of the most frequently studied genes in this context.22,23 This sarcomeric protein is specific to type II   
muscle fibres and plays an important structural role in the arrangement and transfer of traction between actin     
filamentsandtheZline.24
5
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part of the Article for any Commercial Use is not permitted. The cr eation of derivativ e works from the Article is not permitted. The production of reprints for personal or commercial use is not
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ACTN3 has two alleles: R, which encodes a functional copy of the protein, and X, which encodes a  
nonfunctional version of the protein.
The
ACTN3 RR and RX genotypes have been associated with high speed      
and strength in athletes25,26,28,29 including soccer players30, and the XX genotype has been associated with  
aerobicendurance.10,14,16,31,32,33
Date shown that the genetic profile is related with sport performance and this influence increases at    
higher competitive levels. Yang et al. (2003) identified a higher frequency of ACTN3RR genotype and allele 
R in professional athletes enrolled in modalities that require strength and power physical capacities, in the other    
hand,ACTN3XXandXalleleismorefrequentlyinathleteswithhighenduranceperformance.
Considering the above, the aim of this study was to investigate the association between performance   
(viaphysicaltests)andtheACTN3genotype(RR,RX,andXX)inBraziliansoccerplayers.
Methods
Ethicalcares
This study was approved by the Research Ethics Committee of the Federal University of Minas Gerais    
(ETIC291/09) and complied with all the norms established by the National Health Council (Res. 196/96)    
regarding research with human beings. All procedures, possible risks and benefits of the study were explained  
tothevolunteersbeforetheysignedtheinformedwrittenconsenttoparticipateintheexperiment.
Subjects
138 male athletes of categories of Under17, Under20 and professionals of a Brazilian first division      
Soccer team that kept regular training sessions and compete in official events acknowledged by the Brazilian     
6
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Soccer Federation (CBF) took part in this study (Table 1). The athletes had an average of 4.5 ± 2.5 years of
experience. Apart from the competition periods, the players had at least 2 years of experience in competitive  
footballandtrainedforanaverageofnine2hsessionsover6dayseachweek.
Procedures
Testing was performed outdoors and on artificial turf. A standardized warm up of 10 – 15 min was    
performed that included jogging, shuffling, sprinting, multidirectional movements and dynamic stretching   
exercises.
Day1
The players underwent a 30m sprint test on a grass track, and their speeds were determined for the 
initial 10 m (V10) the remaining 20 m, with the athletes already in motion (V20) and over the entire 30 m        
(V30). Measurements were taken electronically using three photoelectric barriers (positioned at waist height    
approximately 1 m off the ground), with an accuracy of 0.001 s, located at 0 m, 10 m, and 30 m along the track.       
Each subject had three attempts separated by approximately three minutes to ensure full recovery. Subjects    
commenced each sprint from a standing (static) position in which their front foot was placed 50 cm behind the  
start line. Subjects decided themselves when to start each run with the time being recorded when the subject     
intercepted the photocell beam. All the volunteers were instructed to sprint as fast as possible through the    
distance. All three barriers were connected to a computer, and the software MultiSprint®was used to analyse     
speed.
Day2
At least 48h after the previous test, two performance tests were included to evaluate the explosive   
power of the leg extensor muscles on a force platform connected with a digital timer (0.001 s.) (Jump Test®
       
Brazil). This system determines flight time, which is converted to jump height using the following equation: h      
7
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part of the Article for any Commercial Use is not permitted. The cr eation of derivativ e works from the Article is not permitted. The production of reprints for personal or commercial use is not
permitted. It is not permitted to remove, cover, overl ay, obscure, block, or change any copyright no tices or te rms of use which the Publisher may post on the Article. It is not p ermitted to
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= (g (t ²))/8 (where g = acceleration due to gravity and t = air time).34 The tests used were Squat Jump (SJ) and    
CounterMovement Jump (CMJ). Subjects performed the CMJ and SJ with their hands kept on their hips  
throughout the jumps. During the SJ, with knees at 90° of flexion, the subjects were instructed to execute a    
maximal vertical jump and were not allowed to use any downward movement prior to the maximal vertical 
jump. The force curves were inspected to verify no downward movements prior to the vertical jump. During the    
CMJ, the angular displacement of the knees was standardized so that the subjects were required to bend their        
knees to approximately 90º and then rebound upward in a maximal vertical jump. Each subject had four      
attemptsinterspersedwithapproximatelya1.5minuterestbetweeneachjumpinboththeSJandCMJ.
The best jump from each subject was used in the data analysis. Performance using a timing mat can be      
influenced by body position during flight therefore the participants were instructed and carefully observed to  
maintain straight legs while airborne. If the knees were bent or raised, the trial was discarded and the 
participant was given another attempt following a rest period. Since jumping without arm action is not common    
insport,techniquewasdemonstratedtoeachparticipant,followedbytwosubmaximalattempts.
Day3
Two days after the tests to ascertain vertical jump and sprint test, the players undertook a VO2max test  
after a thorough warm up. The VO2max was measured using the YoYo endurance field test.6This test was      
specifically designed for soccer and intermittent sports7, in which the distance run intermittently is directly   
related to the aerobic capacity of the athletes.6Even though field tests are not considered gold standard to    
determine physiological variables, it has been suggested that relevant, specific and operative field tests should 
beusedinteamsports.7,35
All of the physical tests were carried out by a professional expert in this subject (a soccer physiologist)    
along with a researcher, and in accordance with club regulations. These tests were carried out at the start of the  
training season before the athletes had begun a period of physical preparation. All of the athletes were familiar   
with these tests because they form part of the club assessment process. The tests were carried out three times in    
8
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succession, with a full recovery between each attempt the best results for each athlete were used for the    
analysis. The YoYo test was performed only twice because of the reasons of fatigue. The minimum time    
intervalbetweentestswas48hours.
All athletes were housed at the training center of the club and arrived the same day. All of them were in
vocation for 30 days. The players followed the same schedule of training and hours of sleep. All meals were    
takenatthesametimesandwithadietsupervisedbytheclub'snutritiondepartment.
The players participating in the study were older than 16 years old (to minimise the interference of     
factors such as maturation or experience in physical tests) and were categorized as under17, under20, and   
professionals. The athletes were ranked by performance in each test, and then the groups were subdivided into       
quartiles, in crescent order of performance, thereby obtaining the first quartile (0–25%, weak), second quartile     
(25–50%, normal), third quartile (50–75%, good), and fourth quartile (75–100%, excellent) of the results   
(Table 2). Then, in each quartile, the players were categorized by genotype (RR, RX, and XX), and the    
genotypicfrequencieswerecomparedbetweenthegroups.
GenotypingoftheR577XpolymorphismintheACTN3
gene
We collected blood samples for genotyping of the athletes by using the vacuum method, in 2 4mL 
EDTA tubes (Vacuette®). This sample was collected through venous puncture performed by one of the   
investigatorsoratrainednurse.Thetubeswerestoredat4°CuntilDNAextraction.
The extraction of genomic DNA from the peripheral blood samples was performed according to  
literature protocol, using proteinase K followed by salt precipitation.36 A DNA fragment carrying the exon 16    
from the ACTN3 gene was amplified from the genomic DNA and the following initiators were used: Forward:      
5’CTGTTGCCTGTGGTAAGTGGG3’ reverse: 5’TGGTCACAGTATGCAGGAGGG3’, correlated to the 
adjacent intronic sequences. The PCR reactions presented a final volume of 25 µL, with 10 mM Tris, pH 8.4,  
9
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50 mM KCl, 1.75 mM MgCl2, 0.1% Triton X100, 0.2 mM of each dNTP (Invitrogen, Carlsbad, CA), 1 U Taq    
DNA polymerase (Phoneutria Biotecnologia, Belo Horizonte, MG, Brazil) and 1.0 M of each initiator   
(SINAPSE BIOTECNOLOGIA, São Paulo, SP, Brazil), using about 100 ng of genomic DNA as mold. The       
amplification program consisted of an initial denaturation at 94°C for 5 min, followed by 30 cycles, comprising 
94°C for 1 min, 64°C for 1 min and 72°C for 1 min, with a final extension of 72°C for 5 min. The R577X      
alleles (codons CGA and TGA) were distinguished by the presence (577X) or absence (577R) of a restriction    
site of the enzyme DdeI.37 After amplification by PCR, 1 µL of the product of PCR was digested with 20 U of      
the enzyme DdeI in a final volume of 15 µL. The reactions were incubated overnight (O/N) at 37°C. Later, the 
fragments digested were separated by electrophoresis with polyacrylamide gel 8%, stained with silver nitrate    
solution.38 The ACTN3 577R allele generates fragments in 205 and 86 base pairs (bp), while the ACTN3 577X       
allelegeneratesfragmentsin108,97and8618(Fig.1).
Given the phenotypical similarity of ACTN3 RR and RX, individuals with these genotypes were   
groupedtogetherandcomparedtogroupXX.
Figure1"Here".
Statisticalanalysis
The data were analysed using descriptive and inferential statistics. For this statistical analysis, the 
software Statistical Package for the Social Sciences for Windows, version 14.0, was used. The qualitative 
variables were presented as absolute and relative frequencies. The X2was used to compare the genotype    
frequencies (RR, RX and RR) and allele frequencies (R and X) within and between the different quartiles of   
performance rating. The level of significance was 5% that is, a value was considered significant when p   
0.05.
10
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Results
DataforthecharacteristicsofthesubjectsusedareshowninTable1.
Table1"Here".
The results of physical tests used for the classification of athletes in different quartiles are presented in    
Table 2. The consistency values (ICC, 1.1) and the standard error of the mean (SEM)39 for the results of the       
physical tests were V10, 0.98 and 2.5% V20, 0.96 and 2.9% V30, 0.96 and 2.8% SJ, 0.94 and 3.5% CMJ,     
0.95and3.1%andYYo,0.92and3.6%,respectively.
Table2"Here".
As shown in Tables 3 and 4, no significant differences were observed in genotypic or allelic frequency  
betweenthedifferentperformancequartiles.
Table3"Here".
Table4"Here".
Discussion
Given the speed and strength requirements of soccer, in this study, we expected to find the highest      
frequencies for the RR and RX genotypes and the R allele in the groups showing high performance in the speed      
and strength tests. We also expected to find the highest frequencies for the XX genotype and the X allele in the   
groups with high performance in the aerobic capacity test. However, no significant differences were found in    
genotypicorallelicfrequencybetweenthedifferentperformancequartilesforthesoccerplayers.
11
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The failure to identify any association between genotypic frequency and performance is supported by    
the fact that other studies also found no association between the genotypic or allelic frequency of ACTN3 and    
athlete competitive level, using the 30m speed test and the jump tests (SJ and CMJ)27, as well as longdistance
endurance tests such as Ironman events.24 Other studies on healthy individuals did not find any differences in   
theACTN3genotypewithregardtospeedorintensity27,ormaximalaerobiccapacity(V02Max).33
The data from this study contradict the findings of Yang et al. (2003), which linked the genotypic and   
allelic frequency of ACTN3 with athlete competitive levels in various high endurance and strength tests. 
Moreover, the authors cited identified an increase in frequency of the RR genotype and the R allele in athletes    
specialising in high strength or intensity activities at high competitive levels as well as an increase in the         
frequencyofXXandtheXalleleinathletesspecialisinginendurance.
Other studies found an association between the genotypic frequency of ACTN3 and performance in   
activities including running40 and rowing10, as well as in healthy individuals.26 However, in team sports such as
soccer, it is not only the physical condition that affects high performance but also tactics and the technique of       
eachindividual.
Note that the tests undertaken in this study are more specialised field tests, which are widely applicable   
and convenient in sport.7,9,35 However, field assessment measurements vary more than standardised laboratory   
tests.
One must also consider that, in this study, actions involving multiarticular coordination, such as   
runningandjumping,canaffectperformance9,unliketheuniarticularactionscommonlyusedinthelaboratory.
In isokinetic laboratory tests, men26 and women28 with the RR genotype showed better performance at  
higher angular speeds. However, this was not observed by Hanson et al. (2010), who only found better  
performanceintheisokineticorWingatetestsinhealthyadolescents.
Other studies that did not find any association between performance and the genotypic frequency of     
ACTN3 have put this down to a small N value or the low competitive levels of the athletes studied.19,33 In this   
12
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study, even though the competitive level is high and the number of volunteers is representative with regard to   
the number of professional players in action, differences that were not identified may still exist, which could be  
consideredalimitationofthisstudy.
Garganta et al. (2002) state that soccer is a sport of varying speeds. Because each player on the soccer      
pitch differs in role and game tactics, physical characteristics may have a lesser effect on performance than in      
individual sports. It may be that the genetic influence is more likely to be seen in strength and endurance sports 
orinactivitiesincontrolledenvironmentslikealaboratory.
Given that the ACTN3 gene has been reported to affect muscle strength at high intensities, it was   
expected that a greater number of individuals with the RR and RX genotypes would be found in higher    
performance quartiles for the CMJ, V20, and V30 tests, as there is greater muscular contraction in the 
stretchshortening cycle for these tests than in the SJ and V10 tests41 and it would be expected that this cycle 
would be influenced by the presence of the alphaactinin3 genotypes RR and RX. It has been suggested that   
plyometric training causes greater hypertrophy in type II fibres, refined compliance of elastic components in   
series, and a decrease in contraction time, thereby increasing the stretchshortening cycle. Although this has    
only been seen in an animal model42 and not in humans43, nonetheless, this could be considered a possible  
adaptationtoplyometrictraining,whichisinherentinsoccer.
Alphaactinin3 withstands traction within the actin filaments attached to the Zline at high magnitudes 
of muscle contraction, specifically in type II fibres. Therefore, it would be expected that RR/RX individuals,  
who express alphaactin, would show greater adaptation to plyometric training and perform better in activities  
requiring this type of muscular contraction than XX individuals. However, this could not be confirmed in this    
study.
Identifying the genetic profile of an aptitude for certain physical characteristics could be important for     
the coaching staff of a team, as then the less able athletes could be left out of intense training. It is still possible
that XX athletes are less able with regard to the physical characteristics that modern soccer requires, including   
13
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high speed and strength these athletes may require greater resting periods after matches and training sessions.    
It has been shown in humans that ACTN3 XX individuals were more prone to muscle microtrauma after     
eccentric exercise,18, 28 although this was not confirmed in another study44 or in an animal model.31 This feature  
could affect sport performance, because it would determine adaptability to training21,44 or the distribution ratio 
oftypesofmotorunits.28
One must bear in mind that success in sport, particularly, in multiskilled activities like soccer, cannot   
solely be attributed to a single gene. Moreover, given the vast array of genes related to sport,22,23 the greater the       
number of these genes in the individual, the greater the possibility that their effects will be noticeable. It is      
likely that ACTN3 is a selection factor for athletes, conferring an advantage in some sports however, this is  
still not certain, because genotype is only responsible for part of the athlete’s success, and environmental    
factorscannotbedisregarded.25
Conclusion
In this study, no association was found between ACTN3 genotypic or allelic expression and      
performance in soccer players during physical tests of strength, speed, and endurance. However, this     
information must be observed with caution, because there are other factors besides physical capacity that   
influencesportingperformance.
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copy of th is Article. It is not permitted to make additional copies (eithe r sporadically or s ystematically, either print ed or electronic) of th e Article for an y purpose. It is not permitted to distribute
the electronic copy of the articl e through online internet and/or intranet file sharing systems, electronic mailing or any other means which may allow access to the Article. The use of all or any
part of the Article for any Commercial Use is not permitted. The cr eation of derivativ e works from the Article is not permitted. The production of reprints for personal or commercial use is not
permitted. It is not permitted to remove, cover, overl ay, obscure, block, or change any copyright no tices or te rms of use which the Publisher may post on the Article. It is not p ermitted to
frame o r use framin g techniques to enclose any tradem ark, logo, or other pr oprietary in formation o f the Publis her.
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copy of th is Article. It is not permitted to make additional copies (eithe r sporadically or s ystematically, either print ed or electronic) of th e Article for an y purpose. It is not permitted to distribute
the electronic copy of the articl e through online internet and/or intranet file sharing systems, electronic mailing or any other means which may allow access to the Article. The use of all or any
part of the Article for any Commercial Use is not permitted. The cr eation of derivativ e works from the Article is not permitted. The production of reprints for personal or commercial use is not
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frame o r use framin g techniques to enclose any tradem ark, logo, or other pr oprietary in formation o f the Publis her.
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copy of th is Article. It is not permitted to make additional copies (eithe r sporadically or s ystematically, either print ed or electronic) of th e Article for an y purpose. It is not permitted to distribute
the electronic copy of the articl e through online internet and/or intranet file sharing systems, electronic mailing or any other means which may allow access to the Article. The use of all or any
part of the Article for any Commercial Use is not permitted. The cr eation of derivativ e works from the Article is not permitted. The production of reprints for personal or commercial use is not
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frame o r use framin g techniques to enclose any tradem ark, logo, or other pr oprietary in formation o f the Publis her.
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copy of th is Article. It is not permitted to make additional copies (eithe r sporadically or s ystematically, either print ed or electronic) of th e Article for an y purpose. It is not permitted to distribute
the electronic copy of the articl e through online internet and/or intranet file sharing systems, electronic mailing or any other means which may allow access to the Article. The use of all or any
part of the Article for any Commercial Use is not permitted. The cr eation of derivativ e works from the Article is not permitted. The production of reprints for personal or commercial use is not
permitted. It is not permitted to remove, cover, overl ay, obscure, block, or change any copyright no tices or te rms of use which the Publisher may post on the Article. It is not p ermitted to
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18
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copy of th is Article. It is not permitted to make additional copies (eithe r sporadically or s ystematically, either print ed or electronic) of th e Article for an y purpose. It is not permitted to distribute
the electronic copy of the articl e through online internet and/or intranet file sharing systems, electronic mailing or any other means which may allow access to the Article. The use of all or any
part of the Article for any Commercial Use is not permitted. The cr eation of derivativ e works from the Article is not permitted. The production of reprints for personal or commercial use is not
permitted. It is not permitted to remove, cover, overl ay, obscure, block, or change any copyright no tices or te rms of use which the Publisher may post on the Article. It is not p ermitted to
frame o r use framin g techniques to enclose any tradem ark, logo, or other pr oprietary in formation o f the Publis her.
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TITLESOFTABLES
Table1.Samplecharacteristics.Dataforbodymass,maximumoxygenuptake,age,height,andbody
composition,fortheunder17(U17),under20(U20),andprofessionals(datapresentedasmean±standard
deviation).
Table2.RatingScaleofathletesaccordingtotheirresultsinphysicaltests.
Table 3. Comparison of ACTN3 genotypic frequency (RR, RX, XX) in soccer players classified according to     
performance (1st, 2nd, 3rd, and 4th quartiles) in different physical tests. Values given as absolute (N) and    
relativevalues(%).
Table 4. Comparison of ACTN3 allelic frequencies (R and X) in soccer players classified according to      
performance (1st, 2nd, 3rd, and 4th quartiles) in different physical tests. Values given as absolute (N) and    
relativevalues(%).
TITLESOFFIGURES
Figure 1: Polyacrylamide gel from the restriction site. Subjects with the 577R/R genotype present 2 fragments    
of 205 and 86 bp 577R/X genotype, fragments of 205, 108, 97, and 86 bp and 577X/X genotype, fragments of   
108,97,and86bp.Marker:50bpDNALadder
19
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the electronic copy of the articl e through online internet and/or intranet file sharing systems, electronic mailing or any other means which may allow access to the Article. The use of all or any
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permitted. It is not permitted to remove, cover, overl ay, obscure, block, or change any copyright no tices or te rms of use which the Publisher may post on the Article. It is not p ermitted to
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Table1.Samplecharacteristics.Dataforbodymass,maximumoxygenuptake,age,height,andbody
composition,fortheunder17(U17),under20(U20),andprofessionals(datapresentedasmean±
standarddeviation).
Category
N
O2ma
mLg1min1
Age
years
Bodymass
g
Height
cm
Bodyfat

U17(32)
56.1±2.0
17.30±5.33
73.30±6.79
181.33±7.04
9.15±1.89
U20(38)
57.2±2.9
20.60±3.66
73.36±7.90
180.61±8.20
9.21±2.08
Prof(68)
63.0±4.5
23.25±6.42
75.50±4.89
185.64±7.05
8.11±1.33
1
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Table2.RatingScaleofathletesaccordingtotheirresultsinphysicaltests.
1
2
3
CM
S
O2ma
6.0m/s
8.8m/s
7.6m/s
45cm
42cm
60mLkg1min1
5.8m/s
8.5m/s
7.4m/s
39cm
37cm
55mLkg1min1
5.5m/s
8.3m/s
7.2m/s
34cm
33cm
51mLkg1min1
5.5m/s
8.3m/s
7.2m/s
34cm
33cm
50mLkg1min1
Fourth quartile Weak (4ºQu. (Weak)) Third quartile Normal (3ºQu. (Norm.)) Second quartile Good (2ºQu.  
(Good)) and First quartile Excellent (1ºQu. (Exc.)). Speed to the initial 10 m (V10), the remaining 20 m (V20)     
and over the entire course 30 m (V30), Maximal oxygen uptake (VO2max), CounterMovement Jump (CMJ) and      
SquatJump(SJ).
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Table 3. Comparison of ACTN3 genotypic frequency (RR, RX, XX) in soccer players classified   
according to performance (1st, 2nd, 3rd, and 4th quartiles) in different physical tests. Values given   
asabsolute(N)andrelativevalues(%).


Quartileperformance


Gen.
4ºQu.Exc.,
N(%)
3ºQu.Good,
N(%)
2ºQu.Nor.
N(%)
1ºQu.Weak
N(%)
pvalue
1
RR
16(53)
14(47)
17(57)
9(30)
34
RX
13(43)
13(43)
10(33)
18(60)
XX
1(3)
3(10)
3(10)
3(10)
Total
30(100)
30(100)
30(100)
30(100)
2
RR
20(67)
14(47)
13(43)
9(30)
17
RX
8(27)
14(47)
15(50)
17(57)
XX
2(7)
2(7)
2(7)
4(13)
Total
30(100)
30(100)
30(100)
30(100)
3
RR
17(57)
17(57)
13(43)
9(30)
31
RX
11(37)
10(33)
15(50)
18(60)
XX
2(7)
3(10)
2(7)
3(10)
Total
30(100)
30(100)
30(100)
30(100)
O2ma
RR
13(42)
15(48)
12(40)
16(53)
4
RX
13(42)
14(45)
14(47)
14(47)
XX
5(16)
2(6)
4(13)
0(0)
Total
31(100)
31(100)
30(100)
30(100)
CM
RR
18(56)
17(53)
13(42)
11(35)
141
RX
11(34)
14(44)
17(55)
14(45)
XX
3(9)
1(3)
1(3)
6(19)
Total
32(100)
32(100)
31(100)
31(100)
S
RR
7(47)
7(47)
10(67)
4(29)
13
RX
7(47)
7(47)
5(33)
6(43)
XX
1(7)
1(7)
0(0)
4(29)

Total
15(100)
15(100)
15(100)
14(100)

Fourth quartile Weak (4ºQu. Weak) Third quartile Normal (3ºQu. Norm.) Second quartile Good (2ºQu. Good)  
and First quartile Excellent (1ºQu. Exc.). Speed to the initial 10 m (V10), the remaining 20 m (V 20) and over the    
entire 30 m (V30), Maximal oxygen uptake (VO2max), CounterMovement Jump (CMJ) and Squat Jump (SJ).   
2testp≤0.05indicatessignificance.
1
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Table 4. Comparison of ACTN3 allelic frequencies (R and X) in soccer players classified     
according to performance (1st, 2nd, 3rd, and 4th quartiles) in different physical tests. Values given   
asabsolute(N)andrelativevalues(%).

Quartileperformance


Allele
4ºQu.Exc.,
N(%)
3ºQu.Good,
N(%)
2ºQu.Nor.
N(%)
1ºQu.Weak
N(%)
pvalue
1
R
45(75)
41(68)
44(73)
36(60)
2
X
15(25)
19(32)
16(27)
24(40)
Total
60(100)
60(100)
60(100)
60(100)
2
R
48(80)
42(70)
41(68)
35(58)
4
X
12(20)
18(30)
19(32)
25(42)
Total
60(100)
60(100)
60(100)
60(100)
3
R
45(75)
44(73)
41(68)
36(60)
2
X
15(25)
16(27)
19(32)
24(40)
Total
60(100)
60(100)
60(100)
60(100)
O2ma
R
39(63)
44(71)
38(63)
46(77)
3
X
23(37)
18(29)
22(37)
14(23)
Total
62(100)
62(100)
60(100)
60(100)
CM
R
47(73)
48(75)
43(69)
36(58)
12
X
17(27)
16(25)
19(31)
26(42)
Total
64(100)
64(100)
62(100)
62(100)
S
R
21(70)
21(30)
25(83)
14(50)
5
X
9(30)
49(70)
5(17)
14(50)

Total
30(100)
70(100)
30(100)
28(100)

Fourth quartile Weak (4ºQu. Weak) Third quartile Normal (3ºQu. Norm.) Second quartile Good (2ºQu. Good) 
and First quartile Excellent (1ºQu. Exc.). Speed to the initial 10 m (V10), the remaining 20 m (V 20) and over    
the entire 30 m (V30), Maximal oxygen uptake (VO2max), CounterMovement Jump (CMJ) and Squat Jump (SJ).    
2testp≤0.05indicatessignificance.
1
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... It is generally accepted that biomotor abilities of both elite and non-elite athletes could be linked to genetic variation [32][33][34][35][36][37]. For mechanistic explanation of the biomotor abilities, many studies have indicated that the ACTN3 gene was a highly critical candidate gene whose product affected the athletic performance in elite or sub-elite athletes [38][39][40][41]. ...
... Based on the information provided, it is understood that the majority of the energy required in basketball and similar disciplines is supplied by the adenosine triphosphate-creatine phosphate (ATP-CP) pathway and anaerobic glycolysis. Considering the long duration of a basketball match, aerobic endurance and short-term high-intensity explosive activities are quite important [30,32,70,71]. ...
... Additionally, no significant differences were reported in terms of genotype distributions between the control group and the players [80]. Moreover, according to Coelho and colleagues (2016), ACTN3 R577X is not an ideal genetic marker for identifying a talented football player, and besides physical fitness that affects high performance in team sports, technical and tactical skills are also important [32]. Another study conducted by Lima et al. [54] evaluated the rs1815739 polymorphism in elite basketball players in terms of player positions. ...
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Association of ACTN3 R577X Polymorphism with Elite Basketball Player Status and Training Responses. Abstract: The α-actinin-3 (ACTN3) gene rs1815739 (C/T, R577X) polymorphism is a variant frequently associated with athletic performance among different populations. However, there is limited research on the impact of this variant on athlete status and physical performance in basketball players. Therefore, the aim of this study was twofold: (1) to determine the association of ACTN3 rs1815739 polymorphism with changes in physical performance in response to six weeks of training in elite basketball players using 30 m sprint and Yo-Yo Intermittent Recovery Test Level 2 (IR 2) tests, and (2) to compare ACTN3 genotype and allelic frequencies between elite basketball players and controls. The study included a total of 363 individuals, comprising 101 elite basketball players and 262 sedentary individuals. Genomic DNA was isolated from oral epithelial cells or leukocytes, and genotyping was performed by real-time PCR using KASP genotyping method or by microarray analysis. We found that the frequency of the ACTN3 rs1815739 XX genotype was significantly lower in basketball players compared to controls (10.9 vs. 21.4%, p = 0.023), suggesting that RR/RX genotypes were more favorable for playing basketball. Statistically significant (p = 0.045) changes were observed in Yo-Yo IRT 2 performance measurement tests in basketball players with the RR genotype only. In conclusion, our findings suggest that the carriage of the ACTN3 rs1815739 R allele may confer an advantage in basketball.
... The Q-Genie checklist has 7 possible answers for each question (from 'poor' to 'excellent'). The overall quality of studies was classified as 'poor quality' ( 35), 'moderate quality' (> 35 and 45), and 'good quality' (> 45) for studies including control groups. For studies that did not include control groups, the values for the parameters listed above were 32, > 32 and 40, and > 40, respectively. ...
... Lack of associations was found between the ACE genotype and elite Italian football players [29]. Moreover, no associations were observed between ACTN3 genotypes or allelic expression and strength, speed, or endurance capacity in under-17, under-20, and professional Brazilian football players [35]. ...
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Purpose. To systematically review and organise the available literature devoted to the topic of genetics and performance in football. Methods. A systematic search was conducted in accordance with the PRISMA guidelines in Web Articles were screened by using pre-defined selection criteria, and methodological quality was assessed independently by 2 authors. Results. The electronic searches yielded 872 articles, and after the screening process, a total of 38 studies met the eligibility criteria and were subsequently included for review. Conclusions. The reviewed studies identified the most frequently addressed topics in this area of research: (1) performance-related genes; (2) injury-related genes; (3) body composition-related genes; and (4) cardiac adaptations. This area of research is still at an early stage, and there is a need for studies to develop knowledge of genetics and its link with physical, technical, and cognitive performance in football with a view to facilitating talent identification in young players.
... The Q-Genie checklist has 7 possible answers for each question (from 'poor' to 'excellent'). The overall quality of studies was classified as 'poor quality' ( 35), 'moderate quality' (> 35 and 45), and 'good quality' (> 45) for studies including control groups. For studies that did not include control groups, the values for the parameters listed above were 32, > 32 and 40, and > 40, respectively. ...
... Lack of associations was found between the ACE genotype and elite Italian football players [29]. Moreover, no associations were observed between ACTN3 genotypes or allelic expression and strength, speed, or endurance capacity in under-17, under-20, and professional Brazilian football players [35]. ...
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Full-text available
Purpose. To systematically review and organise the available literature devoted to the topic of genetics and performance in football. Methods. A systematic search was conducted in accordance with the PRISMA guidelines in Web of Science, SPORTDiscus, and PubMed for original research published before October 2019. The following keywords were entered: ‘Soccer’ OR ‘Football’ AND ‘Genetic’ OR ‘Epigenic’ OR ‘Powergene’ OR ‘Genomic’ OR ‘Genotype’ OR ‘Polymorphism’ OR ‘Genetic marker’. Articles were screened by using pre-defined selection criteria, and methodological quality was assessed independently by 2 authors. Results. The electronic searches yielded 872 articles, and after the screening process, a total of 38 studies met the eligibility criteria and were subsequently included for review. Conclusions. The reviewed studies identified the most frequently addressed topics in this area of research: (1) performancerelated genes; (2) injury-related genes; (3) body composition-related genes; and (4) cardiac adaptations. This area of research is still at an early stage, and there is a need for studies to develop knowledge of genetics and its link with physical, technical, and cognitive performance in football with a view to facilitating talent identification in young players. Key words: soccer, talent, heritage, training, performance
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Background Previous studies reported differences in genotype frequency of the ACTN3 R577X polymorphisms (rs1815739; RR, RX and XX) in athletes and non-athletic populations. This systematic review with meta-analysis assessed ACTN3 R577X genotype frequencies in power versus endurance athletes and non-athletes. Methods Five electronic databases (PubMed, Web of Science, Scopus, Science Direct, SPORTDiscus) were searched for research articles published until December 31st, 2022. Studies were included if they reported the frequency of the ACTN3 R577X genotypes in power athletes (e.g., weightlifters) and if they included a comparison with endurance athletes (e.g., long-distance runners) or non-athletic controls. A meta-analysis was then performed using either fixed or random-effects models. Pooled odds ratios (OR) were determined. Heterogeneity was detected using I² and Cochran's Q tests. Publication bias and sensitivity analysis tests were computed. Results After screening 476 initial registrations, 25 studies were included in the final analysis (13 different countries; 14,541 participants). In power athletes, the RX genotype was predominant over the two other genotypes: RR versus RX (OR 0.70; 95% CI 0.57–0.85, p = 0.0005), RR versus XX (OR 4.26; 95% CI 3.19–5.69, p < 0.00001), RX versus XX (OR 6.58; 95% CI 5.66–7.67, p < 0.00001). The R allele was higher than the X allele (OR 2.87; 95% CI 2.35–3.50, p < 0.00001) in power athletes. Additionally, the frequency of the RR genotype was higher in power athletes than in non-athletes (OR 1.48; 95% CI 1.25–1.75, p < 0.00001). The RX genotype was similar in both groups (OR 0.84; 95% CI 0.71–1.00, p = 0.06). The XX genotype was lower in power athletes than in controls (OR 0.73; 95% CI 0.64–0.84, p < 0.00001). Furthermore, the R allele frequency was higher in power athletes than in controls (OR 1.28; 95% CI 1.19–1.38, p < 0.00001). Conversely, a higher frequency of X allele was observed in the control group compared to power athletes (OR 0.78; 95% CI 0.73–0.84, p < 0.00001). On the other hand, the frequency of the RR genotype was higher in power athletes than in endurance athletes (OR 1.27; 95% CI 1.09–1.49, p = 0.003). The frequency of the RX genotype was similar in both groups (OR 1.07; 95% CI 0.93–1.24, p = 0.36). In contrast, the frequency of the XX genotype was lower in power athletes than in endurance athletes (OR 0.63; 95% CI 0.52–0.76, p < 0.00001). In addition, the R allele was higher in power athletes than in endurance athletes (OR 1.32; 95% CI 1.11–1.57, p = 0.002). However, the X allele was higher in endurance athletes compared to power athletes (OR 0.76; 95% CI 0.64–0.90, p = 0.002). Finally, the genotypic and allelic frequency of ACTN3 genes were similar in male and female power athletes. Conclusions The pattern of the frequencies of the ACTN3 R577X genotypes in power athletes was RX > RR > XX. However, the RR genotype and R allele were overrepresented in power athletes compared to non-athletes and endurance athletes. These data suggest that the RR genotype and R allele, which is associated with a normal expression of α-actinin-3 in fast-twitch muscle fibers, may offer some benefit in improving performance development in muscle strength and power.
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