Chen Yamin

The ACE deletion allele is associated with Israeli elite endurance athletes

An Alu insertion (I)/deletion (D) polymorphism in the angiotensin I converting enzyme (ACE) gene has been associated with ACE activity. Opposing effects on elite athletic performance have been proposed for the I and D alleles; while the D allele favours improved endurance ability, the I allele promotes more power‐orientated events. We tested this hypothesis by determining the frequency of ACE ID alleles amongst 121 Israeli top‐level athletes classified by their sporting discipline (marathon runners or sprinters). Genotyping for ACE ID was performed using polymerase chain reaction on DNA from leucocytes. The ACE genotype and allele frequencies were compared with those of 247 healthy individuals. Allele and genotype frequencies differed significantly between the groups. The frequency of the D allele was 0.77 in the marathon runners, 0.66 in the control subjects (P= 0.01) and 0.57 in the sprinters (P= 0.002). The ACE DD genotype was more prevalent among the endurance athletes (0.62) than among the control subjects (0.43, P= 0.004) and the power athletes (0.34, P= 0.004). In the group of elite athletes, the odds ratio of ACE DD genotype being an endurance athlete was 3.26 (95% confidence interval 1.49–7.11), and of ACE II genotype was 0.41 (95% confidence interval 0.14–1.19). We conclude that in Israeli elite marathon runners the frequency of the ACE D allele and ACE DD genotype seems to be higher than in sprinters, suggesting a positive association between the D allele and the likelihood of being an elite endurance athlete in some ethnic groups.

Human, Environmental & Exercise: The ACE deletion allele is associated with Israeli elite endurance athletes

An Alu insertion (I)/deletion (D) polymorphism in the angiotensin I converting enzyme (ACE) gene has been associated with ACE activity. Opposing effects on elite athletic performance have been proposed for the I and D alleles; while the D allele favours improved endurance ability, the I allele promotes more power‐orientated events. We tested this hypothesis by determining the frequency of ACE ID alleles amongst 121 Israeli top‐level athletes classified by their sporting discipline (marathon runners or sprinters). Genotyping for ACE ID was performed using polymerase chain reaction on DNA from leucocytes. The ACE genotype and allele frequencies were compared with those of 247 healthy individuals. Allele and genotype frequencies differed significantly between the groups. The frequency of the D allele was 0.77 in the marathon runners, 0.66 in the control subjects (P= 0.01) and 0.57 in the sprinters (P= 0.002). The ACE DD genotype was more prevalent among the endurance athletes (0.62) than among the control subjects (0.43, P= 0.004) and the power athletes (0.34, P= 0.004). In the group of elite athletes, the odds ratio of ACE DD genotype being an endurance athlete was 3.26 (95% confidence interval 1.49–7.11), and of ACE II genotype was 0.41 (95% confidence interval 0.14–1.19). We conclude that in Israeli elite marathon runners the frequency of the ACE D allele and ACE DD genotype seems to be higher than in sprinters, suggesting a positive association between the D allele and the likelihood of being an elite endurance athlete in some ethnic groups.

Is there an interaction between PPARD T294C and PPARGC1A Gly482Ser polymorphisms and human endurance performance

Functional Gly482Ser (rs8192678) and T294C (rs2016520) polymorphisms in the peroxisome proliferator‐activated receptor γ coactivator‐1 (PPARGC1A) and peroxisome proliferator‐activated receptor δ (PPARD) genes, respectively, have been associated with mRNA and/or protein activity. The aim of this study was to determine their frequency distribution among 155 Israeli athletes (endurance athletes and sprinters) and 240 healthy control subjects. There were no differences between the endurance athletes, the sprinters and the control group across the PPARD T294C genotypes (P= 0.62). Similarly, no statistical differences were found between the subgroups of elite‐level endurance athletes (those who had represented Israel in a world track and field championship or in the Olympic Games) and national‐level endurance athletes (P= 0.3), or between elite‐level and national‐level sprinters (P= 0.9). However, a combined influence of these two polymorphisms on endurance performance was found. The PPARD CC +PPARGC1A Gly/Gly genotypes were more frequently found in the elite endurance athletes than in national‐level endurance athletes (P < 0.000). In the cohort of endurance athletes, the odds ratio of the ‘optimal genotype’ for endurance athletes (PPARD CC +PPARGC1A Gly/Gly +PPARGC1A Gly/Ser) being an elite‐level athlete was 8.32 (95% confidence interval 2.2–31.4). In conclusion, the present study suggests that PPARD T294C is not associated with endurance performance. However, a higher frequency of the PPARGC1A Gly/Gly +PPARD CC genotype is associated with elite‐level endurance athletes.

Is there an ACE ID-ACTN3 R577X polymorphisms interaction that influences sprint performance?

Functional R577X (rs.1815739) and ID (rs.5186) polymorphisms in the alpha-actinin-3 ( ACTN3) and the angiotensin converting enzyme (ACE) genes, respectively, have been associated with sprint performance. The aim of this study was to determine their effect on sprint performance among 81 Israeli sprinters and 240 healthy controls. Results revealed that the ACE II genotype+ ACTN3 R allele (P=0.003 for sprinters vs. controls), and the ACTN3 RR genotype +ACE I allele (P=0.001 for sprinters vs. controls) might be the genotype for sprinters. In the whole cohort the probability of ACTN3 RR genotype+ ACE I allele being a sprinter (odds ratio 2.67, 95% confidence interval 1.45-4.93) and of ACE II genotype+ ACTN3 R allele being a sprinter (odds ratio 3.57, 95% confidence interval 1.78-7.15) was significantly higher than that in the controls. In conclusion, the above data suggest that ACE ID/ ACTN3 R577X genotype combination is associated with sprint ability. However, ACE ID/ ACTN3 R577X genotype combination is not related to the level of performance.

The guanine nucleotide binding protein β polypeptide 3 gene C825T polymorphism is associated with elite endurance athletes

A functional C825T polymorphism in the human guanine nucleotide binding protein β polypeptide 3 (GNB3) gene has been associated with enhanced G protein activation. Since reports regarding the interaction between physical activity and the GNB3 C825T polymorphism are limited and inconsistent, the aim of this study was to determine the frequency of C825T alleles among 155 elite Israeli athletes (endurance athletes and sprinters) and 234 healthy control subjects. Genotyping for GNB3 C825T was performed using polymerase chain reaction on DNA from leucocytes. Results showed that there was a significant difference in GNB3 C825T polymorphism genotype frequencies between endurance athletes and sprinters (P= 0.045) as well as between endurance athletes and control subjects (P= 0.046). We also observed a significantly higher proportion of the GNB3 TT genotype in the group of endurance athletes (19%) compared with the sprinters (5%, P= 0.014) and the control subjects (8.5%, P= 0.026). In the group of athletes, the odds ratio of GNB3 TT genotype being an endurance athlete was 4.49 (95% confidence interval 1.4–14.3) and of GNB3 CC genotype was 0.91 (95% confidence interval 0.47–1.77). These results were even more pronounced when we compared between the subgroups of 20 top‐level endurance athletes and 24 top‐level sprinters. We conclude that in Israeli athletes the GNB3 TT genotype is higher in elite endurance athletes than it is in sprinters, and within the endurance group it is higher in top‐level athletes, suggesting a positive association between the TT genotype and the likelihood of being an elite endurance athlete.

Is the interaction between HIF1A P582S and ACTN3 R577X determinant for power/sprint performance?

Hypoxia-inducible factor 1 (HIF-1) is a transcription factor that regulates gene expression in response to hypoxia and has been associated with athletic performance. The aims of this study were (1) to determine the frequency distribution of HIF1A Pro582Ser (rs11549465) polymorphism among 155 Israeli athletes (sprinters and endurance athletes) and 240 healthy controls and (2) to analyze the influence of the interaction between HIF1A Pro582Ser and ACTN3 R577X (rs1815739) genotypes on sprint performance. There were no differences across the HIF1A genotype and allele frequencies among endurance athletes, sprinters, and controls. Similarly, no differences were found between the subgroups of top-level and national-level endurance athletes, or between top-level and national-level sprinters. Conversely, interaction effects were found between HIF1A Pro582Ser and ACTN3 R577X polymorphisms and sprinters. The proportion of HIF1A Pro/Pro + ACTN3 R/R genotypes was significantly higher in sprinters than in endurance athletes and healthy controls (P = .002). In addition, the odds ratio for HIF1A Pro/Pro + ACTN3 R/R genotype carriers being a sprinter was 2.25 (95% confidence interval, 1.24-4.1); and that for HIF1A Pro/Pro + ACTN3 R/R genotype carriers being an endurance athlete was 0.5 (95% confidence interval, 0.2-1.24). We conclude that HIF1A Pro582Ser polymorphism by itself is not critical in determining sprint performance. However, sprinter performance is determined by the interaction between the wild-type HIF1A Pro/Pro genotype and ACTN3 RR genotype.

CK-MM Gene Polymorphism Does not Influence the Blood CK Activity Levels After Exhaustive Eccentric Exercise

Gene variants, such as creatine kinase (CK) polymorphisms, have been suggested to explain the inter-individual blood CK response to eccentric exercise. However, since this association is still doubtful, the purpose of this study was to analyse the relationship between the magnitudes of the CK response to exercise with the occurrence of muscle CK-MM NcoI polymorphism in young healthy subjects. Blood CK activity was assessed in 70 subjects immediately before and 3, 24, 48, 72, 96, 120, 168 h after strenuous eccentric exercise. Based on the amount of CK release by each subject, the sample was distributed in quartiles and the genotype and allele frequency distribution was compared among quartiles. Despite the inter-individual variability of CK response observed between subjects, there were no differences in genotype and allele frequencies among quartiles. The results allowed us to conclude that CK response after exhaustive eccentric exercise is not associated with CK-MM Ncol polymorphism.

Optimal health and function among the elderly: lessening severity of ADL disability

Despite mounting evidence implicating sedentary behavior as a significant risk factor among the elderly, there is a limited amount of information on the type and amount of activity needed to promote optimal health and function in older people. Overall muscle strength and mass decline 30–50% between the ages of 30 and 80. The loss of muscle mass accounts for most of the observed loss of strength. The loss of muscle tissue is due to a decrease in the number of muscle fibers and to atrophy of the type II muscle fibers. The declining strength reduces the capacity to carry out basic activities of daily life and puts people at risk for falls and dependence on others. The objective of the present review is to examine the role of exercise training as a primary tool for increasing cardiopulmonary and muscular fitness in order to lessen the severity of disability in activities of daily living and to attain optimal health and functioning among the elderly.

Resting measures and physiological responses to exercise for the determination of prognosis in patients with chronic heart failure: useful tools for clinical decision-making.

Despite recent advances in the management of chronic heart failure (CHF), the prognosis of many of these patients remains dire. The need for an accurate prognosis in these patients has led to the identification of several indicators purported to represent the impact of the disease. Such indicators often are obtained at rest and are not always accurate at determining the clinical status of CHF patients. As a result, the relationship between prognostic indicators and clinical outcomes is frequently weak. On the other hand, physiological responses to acute exercise may unmask patients with the worst clinical status and identify those at increased risk of poor outcomes. Therefore, the present review appraises the value of several prognostic indicators for patients with CHF collected at rest and in response to exercise. In particular, it contrasts the value and accuracy of predictors of mortality widely used in clinical settings, such as oxygen uptake, ventilatory efficiency, and left ventricular ejection fraction, with new and more direct indicators of ventricular systolic and diastolic function.

Reply to “IL6 genotype and creatine kinase response to exercise”

The present letter is a reply to the comments of Jani Lappalainen in Eur J Appl Physiol (2009) 106:315, regarding our study “IL6 (¡174) and TNFA (¡308) promoter polymorphisms are associated with systemic creatine kinase response to eccentric exercise”, by C. Yamin, J. A. R. Duarte, J. M. F. Oliveira, O. Amir, M. Sagiv, N. Eynon, M. Sagiv, R. E. Amir. The initial remarks of Jani Lappalainen are indeed correct; as we did not indicate the appropriate IL6 ¡174 and TNF ¡308 NCBI reference numbers. Hence, the NCBI reference IDs must be changed to rs1800795 and rs1800629, respectively. Jani Lappalainen further raised questions regarding the low frequency for the genotype CC reported in our subjects, suggesting that technical limitations or data misinterpretation could be responsible for the observed results. In fact, a G/C transition at position ¡61 (rs13447445) lies in the same genomic region as IL6 ¡174 SNP (rs1800795). However, rs13447445 comprises only the G allele and no transition has been reported in NCBI. As a result, the presence of such SNP does not promote any changes in the number and size of the fragments of IL6 ¡174 SNP following digestion with NlaIII. Accordingly, the digestion of 300-bp fragment with Nla III restriction enzyme will always yield four fragments when the C allele is present (13, 54, 111, and 122 bp) and three fragments when G allele is present (13, 54, and 233 bp). Such Wndings argue against the technical limitations suggested by Jani Lappalainen and support our Wnding that the observed genotypes are indeed due to the true characteristics of the population investigated. In light of the above, we contend that our results are valid and supportive of the association of the IL-6 ¡174 (rs1800795) with the creatine kinase response to eccentric exercise.