Effect of angiotensin I-converting enzyme and α-actinin-3 gene polymorphisms on sport performance

Günel, Tuba; Gumusoglu‐Acar, Ece; Hosseini, Mohammad Kazem; Yilmazyildirim, Eda; Dolekcap, Ismail; Aydınlı, Kılıç

doi:10.3892/mmr.2014.1974

Cited by 24 publications

(19 citation statements)

References 21 publications

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“…Increased ACE level/activity, observed in persons with the DD genotype, is associated with increased blood pressure, and also with a higher risk for many other cardiovascular disorders (Wang and Staessen 2000). Additionally, a number of studies have suggested that ACE insertion is associated with better endurance performance in elite athletes (Ma et al 2013;Gunel et al 2014;Saber-Ayad et al 2014).…”

Section: Introductionmentioning

confidence: 99%

Polymorphisms in ACE and ACTN3 Genes and Blood Pressure Response to Acute Exercise in Elite Male Athletes from Serbia

Durmic

Zdravković

Djelić

et al. 2017

Tohoku J. Exp. Med.

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Physiological adaptations to various types of prolonged and intensive physical activity, as seen in elite athletes from different sports, include changes in blood pressure (BP) response to acute exercise. Also, functional polymorphisms of the angiotensin I converting enzyme (ACE) and alfa-actinin-3 (ACTN3) genes are shown to be associated with BP parameters changes, both in athletes and sedentary population. In this study, an Alu insertion (I)/deletion (D) polymorphism in ACE gene, as well as nonsense mutation in the gene encoding ACTN3 have been scored in 107 elite Serbian athletes classified according to their sporting discipline to power/sprint (short distance runners/swimmers), endurance (rowers, footballers, middledistance swimmers) or mixed sports (water polo, handball, volleyball players). Presence of nonfunctional allele in ACTN3 is associated with significantly increased maximal systolic BP (SBPmax, p = 0.04). Athletes with Alu insertion in ACE had significantly (p = 0.006) larger decline of systolic BP after 3 minutes of recovery (SBPR3), calculated as the percentage of maximal SBP response during exercise stress testing. Concomitant presence of non-functional variant in ACTN3 gene decreased this beneficiary effect of ACE mutation on SBPR3. Long term enrollment in power/sprint sports significantly increased resting diastolic BP (DBPrest: 74 mmHg) and SBPmax (197 mmHg) and improved SBPR3 (74.8%) compared to enrolment in endurance (72 mmHg; 178mmHg; 81.1%) and mixed sports (69 mmHg; 185 mmHg; 80.0%). Lack of the effect of genotype by sport interaction on BP parameters suggests that the long-term effects of different disciplines on BP are not mediated by these two genes.

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Section: Introductionmentioning

confidence: 99%

Polymorphisms in ACE and ACTN3 Genes and Blood Pressure Response to Acute Exercise in Elite Male Athletes from Serbia

Durmic

Zdravković

Djelić

et al. 2017

Tohoku J. Exp. Med.

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“…(20) benzer bir şekilde farklı disiplinlerden oluşan 37 elit atlet ve aynı sayıdaki kontrol grubu üzerinde yaptıkları çalışma-da ACTN3 XX ve RX genotipini sporcu grubunda sırasıyla %35,14 ve %54,05 olarak bulmuşlardır. Çalışmalarında RX genotipini, hem sporcu grubu, hem de sedanter kontrollerde yüzde olarak en yüksek genotip değeri olarak bulmuşlardır.…”

Section: Introductionunclassified

Literature Review of Turkish Sportsmen in Terms of ACTN3 R577X Polymorphism

Ulucan¹

2016

Clin Exp Health Sci

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The effect of genes on individual athletic performance is accepted; however, the extent of their effects remains elusive. To date, many studies on different genomic regions that are considered to have an effect on human athletic performance and sportsmen in different types of sports, such as football, basketball, judo, and wrestling, have been conducted. However, the number of these studies with Turkish players as subjects is not adequate. This literature review aimed to collate the results of alpha-actinin-3 (ACTN3) R577X polymorphisms of Turkish athletes after an extensive literature survey. After the survey, we could reach 518 players, including football, basketball, and wrestling players. Of these, 234 were RR (45%), 207 (40%) were RX, and the rest were XX. Power and sprinter R allele counts were 665 (64%), and the endurance allele count was 371 (36%). According to the obtained data, the number and percentage of RR+RX genotypes and R allele were higher than those of XX genotype and X allele. We consider that this first report will be an informative source of information for Turkish players in the terms of ACTN3 R577X polymorphism and Turkish sportsman and will be a valuable guide for new researches. Keywords: Sports, genetics, predisposition to sports, ACTN3, Turkey GİRİŞAtletik performans, sporcuların herhangi bir sportif aktivitelerinde gösterdikleri mental ve fiziksel performanslarının toplamı olarak kabul edilmektedir. Düzenli antrenman ile geliştirilebilen bir özellik olan atletik performansın hem oluşmasında, hem de gelişmesinde genetik faktörlerin katkısı yapılan çalışmalar ile ortaya konmuştur (1). Sadece bireysel sporlarda değil, aynı zamanda takım sporlarında da başarı için, genetik yapıya uygun antrenman ve beslenme programlarının oluşturulması şüphesiz ki büyük önem taşımaktadır. Bu yüzden spor genetiği alanında yapılan çalışmalar son yıllarda sporun büyüyen ekonomisiyle beraber büyük önem kazanmıştır.Spor genetiği alanında yapılan çalışmaların büyük bir bölümü alfa-aktinin-3 geni (ACTN3) üzerine yoğunlaşmıştır. Aktinin protein ailesinin memelilerde 4 farklı formu bulunmaktadır. ACTN1 ve ACTN4 alternatif splays mekanizması ile sentez edilir. Merkezi sinir sisteminde ve düz kaslarda Ca ++ duyarsız varyantları ile birçok dokuda eksprese edilen Ca ++ duyarlı formları bulunmaktadır (2). ACTN1, birçok hücrede aktin filamentlerinin birbirine bağlanmasını sağlayarak bu yapıların hücre-hücre ve hücre-matriks bağlantı yapılarına daha sıkı bağlan-malarını sağlamaktadır, bu nedenle sitokinez, hücre adezyonu ve hücre hareketleri gibi hücresel işlevlerde rol oynamaktadır (3). ACTN2 kalp ve çizgili kas gibi kas tiplerinde ve beyin dokusunda ekpresyona uğrar, kas dokusunda sarkomerlerde anti-paralel olarak uzanan aktin filamentlerinin Z-çizgisine bağlanmasını sağlar (4). Kimi araştırmacılar da dominant olarak kalıtılan bazı miyopatileri bu gen üzerindeki missens mutasyonuna bağlamışlardır (4). ACTN4 ise bu ailenin kas dışı izoformu olarak bilinir, ACTN1 ile yüksek derecede yapısal homoloji göstermelerine rağmen...

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“…Other studies have suggested that allele I can influence the performance of athletes of aerobic sports predominantly, whereas allele D would be related to events which strength-power is the most demanded physical capacity. 1,[12][13][14][15] However, results involving athletes, both of endurance and strength-power, and control groups from different continents have presented different frequencies of ACE genotypes, 12,16,17 which generates controversy in literature.…”

Section: Introductionmentioning

confidence: 99%

Frequency of Gene Ace I Polymorphism I-D in Athletes of Different Sports

Rocha

Nascimento²,

Oliveira³

et al. 2020

Rev Bras Med Esporte

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Introduction: The angiotensin-converting enzyme I-D (ACE) polymorphism gene is one of the most widely investigated genetic variations in sports science. Apparently, allele I is related to endurance sports, while allele D is related to power-strength activities. Nevertheless, studies have presented controversial results when it comes as to its occurrence in a variety of sports. Objective: This study aims to evaluate the frequency of gene ACE polymorphism I-D in professional athletes of collective or individual sports. Methods: Five mL blood were collected from 189 subjects divided into two groups: athletes (AG, n=127, wrestling, taekwondo, soccer, futsal and handball) and non-athletes (NAG, n=62). The athletes group was subdivided by group modalities, into: collective and individual. Both groups were further subdivided into male and female. Thus, we have the groups FAC= collective female, FAI= individual female, MAC= collective male, and MAI= individual male. The statistical analysis was carried out by frequency test, and the Hardy- Weinberg equilibrium by the x² test. Results: The results for the AG group indicated the following frequencies: DD=7%, ID=44% and II=49%. Allele frequency: D=29% and I=71%. For the NAG, the results were: DD=6.5%, ID=45.2% and II=48%. Allele frequency: D=29% and I=71%. The AG genotypic and allele frequencies did not differ statistically from those of the NAG (p= 0.982 and p= 0.984, respectively). However, we noticed that the genotypes II and ID frequencies were significantly higher than those of the DD. Conclusion: It can be concluded that the genotypic and allelic I-D frequencies of the ACE gene do not seem to influence performance in either group or individual sports. ACTN3 genotype frequencies did not vary significantly between male and female control subjects, and overall, there was no significant deviation from Hardy-Weinberg (H-W) equilibrium. Level of evidence I; Diagnostic studies–Investigating diagnostic test.

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Effect of angiotensin I-converting enzyme and α-actinin-3 gene polymorphisms on sport performance

Cited by 24 publications

References 21 publications

Polymorphisms in<i> ACE</i> and <i>ACTN3</i> Genes and Blood Pressure Response to Acute Exercise in Elite Male Athletes from Serbia

Polymorphisms in<i> ACE</i> and <i>ACTN3</i> Genes and Blood Pressure Response to Acute Exercise in Elite Male Athletes from Serbia

Literature Review of Turkish Sportsmen in Terms of ACTN3 R577X Polymorphism

Frequency of Gene Ace I Polymorphism I-D in Athletes of Different Sports

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