An analysis of the ACE I/D gene polymorphism in the
athletes of the twice world champion Brazilian rafting team
Uma análise do polimorfismo do gene ACE I/D nos atletas da equipe de rafting brasileiro duas vezes campeão do mundo
Un análisis del polimorfismo del gen ACE I/D en los deportistas del equipo de rafting brasileño bicampeones del mundo
*Mestre em Ciências Fisiológicas
Department of Physiological Sciences – Federal University of São Carlos – UFSCar
**Doutorado em Ciências Fisiológicas
Department of Physical Education - Federal University of São Carlos – UFSCar
Jorge Camargo Oishi*
Cynthia Aparecida de Castro*
João Guilherme de oliveira Silvestre*
Ana Claudia Garcia de Oliveira Duarte**
Human performances determined by many factors, including training, nutrition and technology, as well genetic factors, the analysis of the capabilities of high level athletes has always been of interest to science and sports coaches. We examined the association of the ACE gene I/D polymorphism with anthropometric measures and blood pressure in Brazilian rafting team. The current hypothesis is that the I allele assists the performance of endurance athletes while the D allele is associated with high ACE activity, leading to increased levels of angiotensin II and theoretically improving performance in strength training and muscle explosion. In this study there was no significant difference in systolic blood pressure between athletes with the ID or DD genotype. We found differences in lipid profile between athletes with DD or ID alleles and no differences in blood pressure were found. Athletes carrying the I allele had significantly higher BMI and muscle mass. The presence of the ACE polymorphisms ID and DD and absence of II in these high level rafting athletes may be one factor that enables them to be champions.
Keywords: Rafting. Ace Polymorphism.
A performance humana é determinada por vários fatores, entre eles o treinamento, nutrição, avanços tecnológicos e também fatores genéticos. A análise das capacidades em atletas de alto nível sempre foi de interesse da ciência e técnicos esportivos. Neste sentido nós examinamos a associação do polimorfismo I/D do gene da ECA com medidas antropométricas e a pressão sanguínea nos atletas tetracampeões mundiais juvenis de rafting. A atual hipótese é que os atletas que possuem o alelo I do gene possuem melhores performances em provas de resistência aeróbia, enquanto que atletas que possuam o alelo D estão associados à maior atividade da enzima ECA, levando a aumentos de angiotensina II, e também teoricamente melhorando a performance em atividades que necessitem de explosão e força muscular. Neste estudo não houve diferenças na pressão sanguínea entre os atletas que com o genótipo ID e os alelos DD, não houve atletas com genótipo II na equipe. Foram encontradas diferenças no perfil lipídico, no IMC e massa muscular entre os genótipos. A presença dos polimorfismos ID e DD e ausência do II nestes atletas de alto nível pode ser um fator a mais que os auxilie a serem campeões.
Unitermos: Rafting. Gene ECA.
Reception: 12/15/2015 - Acceptance: 07/17/2016
1st Review: 06/27/2016 - 2nd Review: 07/13/2016
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Human performances determined by many factors, including training, nutrition and technology, as well genetic factors (Ginevičienė et al., 2011; Bouchard et al., 1999; Bouchard et al., 1986; Fagard et al., 1991; Williams & Folland, 2008).
Genetic factors are determinants in 20-80% of the variation of important characteristics of athletic performance (MacArthur D. & North et al. 2007), including the relative proportion of fast and slow fibers in skeletal muscle, the VO2 max and the psychological attitude to training (McCauley et al., 2008; Williams & Folland, 2008).
The analysis of the capabilities of high-level athletes has always been of interest to science and sports coaches. Measurements are typically made of biochemical, histochemical and cardiopulmonary parameters, because it is a common idea that athletes reach higher levels of performance through training and nutritional monitoring. However, it is known that these factors are not the only determinants of talent for high performance sports, and therefore, there is interest in genetic factors related to sports ability (Dias et al., 2007).
The renin-angiotensin system plays an important role in the endocrine control of homeostasis and the human circulatory system (Eisenmann et al., 2009). Produced by the kidney juxtaglomerular cells, a modified type of smooth muscle cell located in the afferent arterioles, renin acts on angiotensinogen globulin releasing angiotensin I, a 10 amino acid peptide. This peptide has weak vasoconstrictor properties, but when cleaved into an eight amino acid peptide, angiotensin II, by angiotensin converting enzyme (ACE), it acquires a strong vasoconstrictor capacity (Ginevičienė et al., 2011; Oliveira et al., 2003). Another important role of ACE is the deactivation of bradykinin by the hydrolysis of a dipeptide from the C terminal region. Bradykinin is a vasodilator peptide and an inhibitor of cell growth and it promotes its effect by acting on the specific receptors B1R and B2R (Dias et al., 2007).
The ACE gene insertion/deletion ID polymorphism was discovered in 1990 by Rigat et al. (1990) and is characterized by the presence (insertion) or absence (deletion) of 287 bp in intron 16, generating three genotypes, homozygous II, heterozygous I/D and homozygous DD.
Recently, the association of the ACE gene I/D polymorphism with elite athletes performance was analyzed. The most widely promoted hypothesis is that the I allele assists the performance of endurance athletes through factors such as the mechanical efficiency of skeletal muscles and the muscle fiber ratio. The D allele is associated with high ACE activity, leading to increased levels of angiotensin II and theoretically improving performance in strength training and muscle explosion (Dias et al., 2007). The D allele has been correlated with increased levels of ACE in the circulation and in tissues (Rigat et al., 1990; Costerousse et al., 1993).
Less information is available about polymorphisms associated with elite athletic status in power/sprint-oriented events such as jumping or sprinting in track and field specialties.
In this context, our main objective was to determine the frequency of the I and D alleles in the elite rowers of the champion juvenile Brazilian rafting team.
The study was carried out with approval from the Human Research Ethics Committee of Federal University of São Carlos, São Paulo – Brazil, protocol number 390/2011.
A total of 13 athletes from the Brazilian men's rafting team, with an average age of 20 years, were analyzed for this study.
Duplicate buccal mucosa swabs were collected by brushing inside the cheek with Gentra Pure Gene (Gentra Systems, Minneapolis, MN) collection brushes that were placed in lyses solution immediately afterwards. They were transferred to the Federal University of São Carlos for storage at 4 °C prior to the extraction of DNA using “Puregene” DNA Isolation Kits (Gentra Systems).
Analysis of the ACE II, ID, and DD genotypes was performed based on methods from Rigat et al (1990). The D and I alleles of the ACE gene were identified by conventional PCR. Fragment identification of intron 16 from the ACE gene produces a PCR product of 490 bp for the insertion allele or 190 bp for the deletion allele. The PCR products were visualized after staining with ethidium bromide. The genotypes were classified as II, ID or DD based on the positive or negative insertion of allele. The classification grouped 84 bp for the D allele and 65 bp for the I allele of the ACE gene.
Left arm systolic and diastolic blood pressure measurements were taken twice using a sphygmomanometer and stethoscope, and the two measurements were averaged for analysis. Participants were classified as hypertensive if their systolic BP was ≥140mmHg, or if their diastolic BP was ≥90mmHg
All study Participants were classified as underweight if their BMI was <18.5 Kgm-2, normal weight if their BMI was 18.5-24.9, overweight if their BMI was 25.0-29.9 and obese if their BMI was ≥30 Kgm-2
A fasting blood sample (~7 mL) was collected from each subject for determining the metabolic profile. All the subjects maintained an overnight fast of ≥12 h prior to blood collection. The estimates of total cholesterol (TC), triglycerides (TG), high-density lipoprotein (HDL), were made with serum separated by means of a semi-autoanalyser, and values are expressed in mg/dl.
All statistical analyses were performed using a statistical software program. The unpaired Student t -test was used to compare groups. Statistically significant differences were accepted at the 5% level. Data are expressed as mean ± SE
A total of 13 athletes from the Brazilian men's rafting team, with an average age of 19 years were analyzed for this study. Among these, 6 showed the DD genotype and 7 the ID genotype. There were no athletes with the II genotype.
The percentage of body fat was not significantly different between the different genotypes (5.77 ± 1.56% and 6.63 ± 1.57%). In contrast, the BMI (19.96 ± 2.11 Kgm-2 and 22.95 ± 2.21 Kgm-2 respectively; P<0.05) and waist circumference (69.00 ± 3.57cm and 76.14 ± 5.63 cm respectively; P<0.05) of athletes with DD and ID genotypes showed significantly mean differences (Table 1).
Table 1. Body composition, Body mass index and waist circumference of the participants
All Values are expressed as the mean ± s. Athletes with genotype DD (ACE DD) Athletes with genotype ID (ACE ID), * denotes significantly different value from ACE DD (P <0.05)
The data show in Table 2 show that the lipid parameters were significantly higher in athletes with the ID genotype than in athletes with DD genotype, total cholesterol (117.3 ± 19.76 mg/dl and 145.33 ± 22.54* mg/dl respectively; P<0.05), triglycerides (36.9 ± 4.63 mg/dl and 53.13 ± 17.24* mg/dl; P<0.05) for the other hand, HDL concentration is increased in DD genotype than ID genotype (55.90 ± 12.74 mg/dl and 41.42 mg/dl ± 7.43* mg/dl; P<0.05) (Table 2).
We observed no differences in the values of either systolic or diastolic blood pressure between athletes of genotype DD and those of genotype ID (Table 3).
Table 2. Lipid Profile of the participants
All Values are expressed as the mean ± s. Athletes with genotype DD (ACE DD) Athletes with genotype ID (ACE ID), * denotes significantly different value from ACE DD (P<0.05)
Table 3. Blood Pressure of the participants
All Values are expressed as the mean ± s. Athletes with genotype DD (ACE DD) Athletes with genotype ID (ACE ID), * denotes significantly different value from ACE DD (P<0.05)
This study provides data on the association of the ACE genotype with adiposity, blood pressure, cholesterol, triglycerides, and HDL, in athletes who were four time champions in Youth World Rafting.
Rafting is a radical sport of mixed characteristics that requires upper limb strength and aerobic endurance to withstand the tests.
In cyclic sports, especially rafting, the ability to repeat the motor gestures and the efficacy of the technique of rowing are important factors for a good paddler. The rafting championship, according to the International Rafting Federation (IRF) 2012, consists of 4 disciplines: Sprinting, a particular distance in a given time (2-3minutes); Head to head, Team race in pairs, head to head in a knockout format, where the explosive force is essential; Slalom race, that requires good technique because teams need to pass about eight gates in a short time (3 to 5 minutes); and Down river race. The down river race is the most demanding of all the disciplines. The total duration of a down river race should be 20 to 60 minutes.
Several studies have shown an association of the I allele with endurance performance in rowers, triathletes and elite endurance performance athletes. Moreover, the I allele could be responsible for better responses to high volume low intensity training (Woods et al., 2001; Gayagay et al., 1998; Myerson et al.,1999).
The D allele is linked to better hypertrophic response and better strength development in response to strength training with a low volume and high intensity regimen (Colakoglu et al., 2005).
Our study found that of the 13 athletes, 6 have the DD genotype and 7 have the ID genotype. These 7 are the principal athletes of the team. They have metabolic characteristics that cover both aerobic and anaerobic capacities necessary for this sport, which could explain the dominance of this team in the world ranking.
The identification of genes relevant to human athletic performance has been difficult .By 2005, more than 165 genes had been reported to affect physical performance, but each of these genes makes only a small contribution to performance (Rankinen et al., 2006; Lippi, 2008, 2010).
The I allele of the gene encoding ACE is a genetic marker that can be associated with athletic excellence, suggesting a healthy cardiovascular system (Gayagay et al., 1998). The ACE plays an important role in RAS, converting angiotensin I to angiotensin II, which has been identified as a trophic factor in the differentiation of pre-adipocytes into mature adipocytes (Jayasooriya et al., 2008). In our study, no differences were found between the percentage of fat among athletes of the DD and DI genotypes, but athletes carrying the I allele had significantly higher BMI and muscle mass.
Katsuya et al. (1995) reported that patients with the DD genotype had lower BMI than individuals with the ID genotype. In contrast, Akin et al. (2010) and Nagi et al. (1998) found no evidence suggesting effects of the ACE genotype on BMI and waist circumference. In athletes with the ID polymorphism, the greater weight of the muscle mass may be due to some physiological response to the lower ACE activity associated with the I allele that may reduce the hydrolysis of bradykinin and increase vasodilatation and cell growth (Brown et al., 1998).
Significant differences were found in the HDL levels of athletes with the DD and ID genotypes, in contrast to the result found by Bawazier et al. (2010) and Mital et al. (2011), who found no significant differences in HDL and triglycerides in people with normal and metabolic syndrome. Huang et al. (1998) also did not find significant differences in HDL associated with the ACE gene polymorphism in patients with metabolic syndrome. However, Cardoso et al. (2008) found higher mean values of triglycerides and BMI among women with the DD genotype, whereas higher levels of HDL and glucose levels were found in women with the II genotype. In our study, although the lipid profile was higher in athletes with the ID genotype, these values were consistent with the reference values, which were expected because the subjects were already high level athletes.
In this study there was no significant difference in systolic blood pressure between athletes with the ID or DD genotype. Studies are controversial regarding the association between hypertension and the ACE genotype. Bawazier et al. (2010) found values of SBP and DBP significantly higher in individuals with the DD genotype compared with those with the ID or II genotype. In contrast, Cardoso et al. (2008) found no association between the ACE genotype and hypertension in a sample of the population of Rio de Janeiro.
Rafting is a sport that requires metabolic characteristics that cover both aerobic and anaerobic capacity. The 7 athletes with the ACE ID genotype are on the first rafting team, which may explain the dominance of this team in world ranking. This team won several titles, including the four-World Rafting Championship, the Brazilian Championship (9 consecutive years), and the Pan American Rafting Championship (four times).
The presence of the ACE polymorphisms ID and DD in these high level rafting athletes may be one factor that enables them to be champions.
The genetic characterization of this modality is still incomplete, and further studies are needed to clarify the effects of the ID and DD polymorphisms in this sport and their relationship with individual characteristics.
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