ACE I/D polymorphism and cardiac adaptations in adolescent athletes

PURPOSE: The aim of this cross-sectional study was to determine whether there is a correlation between left ventricular hypertrophy (LVH) and angiotensin converting enzyme (ACE) insertion/deletion (I/D) polymorphism in adolescent athletes. METHODS: Seventy-five competitive soccer players (aged 15 +/- 1.2 yr) and 52 untrained control subjects (aged 15 +/- 1.6 yr) were examined with echocardiography (echo) and bioelectrical impedance analysis. The ACE genotype of all subjects was determined by PCR and correlated with left ventricular mass (LVM) indices. RESULTS: Allele frequencies were comparable between athletes and controls. Body surface area (BSA), fat-free mass (FFM), and all mean echo measurements were significantly greater in athletes than in controls. LVM and LVM indices for both BSA and FFM were all significantly greater in athletes than in controls (LVM 195.3 +/- 32 g vs 165.3 +/- 37.6 g; LVM/BSA 115.5 +/- 18.9 g x mq(-1) vs 95 +/- 18.2 g x mq(-1); LVM/FFM 3.5 +/- 0.5 vs 3 +/- 0.54, P < 0.001 for the three variables). Left ventricular hypertrophy was found in 17 (23%) athletes. There was no correlation between ACE I/D polymorphism and athletes with LVH as the II and DD genotype frequencies were identical (41%). However, in athletes with LVH, the presence of the D allele was associated with a greater LVM index than compared to homozygous II genotype (LVM = 145 +/- 7.6 g x mq(-1) in DD+ID group vs 135 +/- 2.9 g x mq(-1) in II group, P = 0.008). CONCLUSIONS: The results of the study show that significant changes occur in cardiac morphology and function in adolescent athletes. Interestingly, the ACE I/D polymorphism was associated with the degree of cardiac hypertrophy but not with the occurrence of LVH itself.     

Lower-limb function among former elite male athletes

To determine the relationship between previous lower-limb loading and current self-reported hip and knee disability, we sent a questionnaire to 1321 former elite male athletes who had represented Finland between 1920 and 1965 in international competitions and to 814 control subjects who had been classified as healthy at the age of 20. After adjustment for age, body mass index, and occupational group, the odds ratios of hip disability in the athletes compared with control subjects were 0.35 in endurance athletes (95% confidence interval, 0.14 to 0.85, P = 0.02), 0.56 in team sport athletes (0.28 to 1.10, P = 0.09), 0.30 in track and field athletes (0.12 to 0.73, P < 0.01), 0.84 in power sport athletes (0.51 to 1.39, P = 0.49), 0.30 in shooters (0.07 to 1.32, P = 0.11), and 0.54 (0.36 to 0.82, P < 0.01) in all athletes combined. Compared with control subjects, only team sport athletes had a higher risk of knee disability (odds ratio, 1.76; 95% confidence interval, 1.03 to 3.02; P = 0.04). Even though athletes have been reported to be at an increased risk for lower-limb osteoarthritis, our data show that former elite male endurance and track and field athletes and all athletes combined reported less hip disability than the control subjects. The effect of vigorous athletic activity on the function of knee joints is more controversial, because sports that involve a high risk of knee injury are likely to lead to pain, disability, and osteoarthritis.     

No association between high-altitude tolerance and the ACE I/D gene polymorphism

PURPOSE: The absence (deletion allele [D]) of a 287 base-pair fragment in the ACE gene is associated with higher ACE tissue activity than its presence (insertion allele [I]) and, as such, may enhance vasoconstriction and fluid retention through increased levels of angiotensin II and aldosterone. Because fluid retention is found in acute mountain sickness (AMS) and exaggerated pulmonary hypertension is essential in the pathophysiology of high-altitude pulmonary edema (HAPE), we hypothesized that the DD genotype is associated with increased susceptibility to these illnesses. METHODS: ACE genotype was thus determined in 83 mountaineers staying over night at 4559 m and related to AMS symptoms. Genotype was similarly determined in 76 mountaineers who had participated in previous studies at 4559 m; 38 of the latter group had a history of HAPE, and 25 had developed HAPE again during these studies. RESULTS: The allele frequency was in Hardy-Weinberg equilibrium in both investigations. Neither the history nor the observed episodes of HAPE nor the prevalence of AMS defined as an AMS-C score >/= 0.70 (environmental symptom questionnaire) in the first study or in both studies taken together were significantly different between the genotypes DD, ID, and II. CONCLUSION: We conclude that I/D-ACE gene polymorphism has no important effect on susceptibility to AMS or HAPE.     

ACE基因I/D和ACE2基因A9570G多态性与心房颤动的相关性研究

目的研究血管紧张素转换酶(ACE)基因I/D和血管紧张素转换酶2(ACE2)基因A9570G多态性与心房颤动(简称房颤)的相关性。方法按入院先后顺序入选305例患者,其中房颤患者148例(房颤组),基础疾病与房颤患者匹配的非房颤患者157例(对照组),通过聚合酶链反应-限制性片段长度多态性(PCR-RFLP)和基因测序方法检测两组患者的ACE基因I/Dey ACE2基因A9570G多态性的基因型。结果房颤组ACE基因I/D基因型及等位基因分布与对照组无统计学差异(P=0.841;OR=0.948,95%CI 0.680~1.322,P=0.755),且不同I/D基因型患者的左房前后径和右房横径大小均无统计学差异(P=0.887,P=0.664)。在男性人群中,ACE2基因A9570G基因型分布与对照组比较无统计学差异(OR=1.631,95%CI 0.880~3.023,P=0.119),但在男性房颤患者中,G基因型的左房前后径及右房横径(分别为40.1±6.4、40.1±5.7mm)明显大于A基因型患者(分别为37.0±4.4、36.5±4.4mm),差异有统计学意义(P=0.028,P=0.010);在女性人群中,ACE2基因A9570G基因型及等位基因分布与对照组比较均无统计学差异(P=0.286;OR=1.415,95%CI 0.885~2.264,P=0.146),在女性房颤患者中,ACE2基因A9570G不同基因型的左房前后径和右房横径大小均无统计学差异(P=0.924,P=0.432)。结论 ACE基因I/D和ACE2基因A9570G多态性与房颤的相关性均不明显。但在男性房颤患者中,ACE2基因A9570G多态性中G基因型可能是预测心房增大的一个危险因子。     

Renin angiotensin aldosterone system and ACE I/D gene polymorphism in high-altitude pulmonary edema

INTRODUCTION: People who visit high altitude are exposed to a stressful environment, and many of them suffer from altitude-induced conditions, including high altitude pulmonary edema (HAPE). We investigated the renin angiotensin aldosterone system (RAAS) and the possible association of angiotensin converting enzyme (ACE) insertion/deletion (I/D) gene polymorphism in the development of HAPE in Indian men. METHODS: Subjects were all low-altitude natives: 19 men who developed HAPE within 1-3 d of arrival at 3000 to 3800 m (patients); and 20 age-matched men who did not develop HAPE during a period of a month or more at > or = 3500 m (controls). We recorded the arterial oxygen saturation (Sao2), heart rate (HR), and blood pressure (BP) of both groups and measured their levels of plasma renin activity (PRA), ACE, aldosterone, and serum electrolytes. Polymerase chain reaction was used to investigate a 287 base pair alu repeat sequence I/D polymorphism in the ACE gene. RESULTS: Compared with controls, patients showed a significantly lower Sao2 and a higher HR. They also had significantly higher plasma PRA, aldosterone, ACE, and serum sodium (Na+) and potassium (K+). No significant difference was observed in ACE I/D allele frequencies. DISCUSSION: The results suggested that RAAS is involved in the development of HAPE in low-altitude natives, but there is no association of ACE I/D gene polymorphism with HAPE.     

ACE gene polymorphism and erythropoietin in endurance athletes at moderate altitude

PURPOSE: To determine the role of the ACE (I/D) gene polymorphism on erythropoietic response in endurance athletes after natural exposure to moderate altitude. METHODS: Erythropoietic activity was measured in 63 male endurance athletes following natural exposure to moderate altitude (2200 m) during 48 h. Erythropoietin (EPO) levels and hemoglobin (Hb) concentrations were measured at baseline and 12, 24, and 48 h after reaching the set altitude. Reticulocyte counts were determined at baseline and 48 h thereafter. Subjects were grouped into two groups (responders and nonresponders) based on significant increase in EPO levels (median: > 16.5 ng x m(-1)) after 24 h at altitude. ACE gene polymorphism was ascertained by polymerase chain reaction (DD, 31 (49%); ID, 24 (38%); II, 8 (13%)). RESULTS: Overall, EPO levels significantly increased at 12 (70%; P = 0.0001) and 24 h (72%; P = 0.0001) above baseline concentration following exposure to 2200 m. Thereafter, EPO concentration decreased at 48 h, but a significant increase in Hb levels (4.6 +/- 4%; P = 0.0001) and reticulocyte count (50.5 +/- 79%; P = 0.0001) was observed at the end of the experiment, suggesting negative feedback. There were no significant differences in EPO and Hb concentration profiles between subjects with DD genotype and those with other genotypes (ID/II). Moreover, responders (N = 42; DD, 50%; ID/II, 50%) and nonresponders (N = 21; DD, 48%; ID/II, 52%) showed a similar erythropoietic profile during the experiment and the ACE gene polymorphism did not influence the time course of the erythropoietic response. CONCLUSIONS: The ACE gene polymorphism does not influence erythropoietic activity in endurance athletes after short-term exposure to moderate altitude.     

Cardiovascular health in former elite male athletes

To increase our knowledge on the effects of previous and current physical activity on cardiovascular health, we studied a group of Finnish male former elite athletes (endurance, n = 49; power, n = 50) and their 49 age and area‐matched controls, aged 64–89 years. Body mass index (BMI), fasting serum glucose, lipids, blood pressure, and ultrasonography of cardiac and carotid artery structure and function were measured. Former endurance athletes smoked less, had lower prevalence of hypertension, and had higher intensity and volume of leisure time physical activity (LTPA) than the controls. No difference was detected in cardiac or carotid artery structure and function between these groups. Former athletes performing high‐intensity LTPA were slightly younger (possible selection bias), had lower BMI and waist circumference, lower use of antihypertensives, lower prevalence of diabetes, lower pulse wave velocity, and higher carotid artery elasticity than former athletes not performing high‐intensity LTPA. In conclusion, former athletes had a higher intensity and volume of LTPA than the controls. Athletes performing vigorous LTPA had more elastic arteries than athletes performing moderately or no LTPA. Vigorous LTPA through the whole lifetime associates with good cardiovascular health, although the previous medical history may play an important role.     

Serum ferritin distribution in elite athletes

ObjectivesIt is not uncommon for athletes to be diagnosed with iron deficiency, yet there remains uncertainty whether the prevalence of suboptimal iron status in elite athletes differs from the normal population or warrants routine screening. The purpose of this study is to describe the distribution of serum ferritin (SF) in a cohort of elite athletes.DesignRetrospective cohort study.MethodsElectronic health records of 1085 elite adult athletes (570 women, 515 men) from 2012–2017 were examined retrospectively. SF values were compared to published normal population data. The proportion of athletes meeting criterion values for iron deficiency or initiation of treatment was examined.ResultsSF distributions in male athletes were significantly lower than normal males aged 20 to <24 yrs. (χ² 28.8, p < 0.001) and aged 24 to <28 yrs. (χ² 91.9, p < 0.001). SF status was similar in female athletes and normal women aged 20 to <24 yrs. (χ² 9.5, p > 0.05) or aged 24 to <28 yrs. (χ² 11.5, p > 0.05). Using 35 ng/ml as the criterion value for stage one iron deficiency, 15% of male athletes and 52% of female athletes displayed suboptimal iron status.ConclusionsMale athletes have a significantly lower population distribution of SF values as compared to normative data on healthy males, with 15% of male athletes having suboptimal SF status. The distribution of SF values in elite female athletes did not differ from population values, however approximately half women athletes were iron deficient. These data suggest that iron screening should be considered in both male and female athlete populations.     

ACE I/D gene polymorphism and aerobic endurance development in response to training in a non-elite female cohort

AIM: The aim of this study was to investigate the association between ACE gene polymorphism and short- and medium-duration aerobic endurance performance improvements in response to the same training regimen in a non-elite female cohort. METHODS: Fifty-five female non-elite Caucasian Turkish athletes trained to enhance running speeds corresponding to 70% and 90% of heart rate reserve (V-HRR70 and V-HRR90 respectively) 30 min running speed performance (V-30min) 3 times per week, for 6 weeks. ACE gene polymorphisms studied by PCR analysis. RESULTS: The distribution of genotypes in the whole cohort was 21.8%, 41.8%, 36.4% for II (n=12), ID (n=23) and DD (n=20), respectively. Subjects with ACE II genotype had significantly higher improvements in V-30min and V-HRR70 than the ACE DD group (P<0.05). However, in HRR90 ACE DD genotype had a better performance enhancement in running speed than others (P<0.05). Endurance improvements in the V-HRR70 and in the V-30min showed a linear trend as II>ID>DD (P<0.05 and P<0.01, respectively) while a linear trend as DD>ID>II (P<0.01) observed in V-HRR90. CONCLUSION: ACE II genotype may related with better improvements in medium duration aerobic endurance performance whilst ACE DD genotype seems to be more advantageous in performance enhancement in shorter duration and higher intensity endurance activities.     

血管紧张素转换酶基因多态性与高血压的关系

目的研究血管紧张素转换酶（angiotensin converting enzyme，ACE）基因I／D多态性的分布及其与高血压发病之间的关系。方法应用PCR方法对356例海军干休所离退休干部进行ACE I／D基因型检测，并分析比较。结果海军老干部高血压病组ACE Ⅱ和ID基因型显著低于对照组（P〈0．01），而DD基因型显著高于对照组（P〈0．01）。结论海军老干部ACE基因多态性与原发性高血压有关，DD基因型易患高血压。     

Psychological predictors of injury among elite athletes

Objectives: To establish injury rates among a population of elite athletes, to provide normative data for psychological variables hypothesised to be predictive of sport injuries, and to establish relations between measures of mood, perceived life stress, and injury characteristics as a precursor to introducing a psychological intervention to ameliorate the injury problem. Methods: As part of annual screening procedures, athletes at the Queensland Academy of Sport report medical and psychological status. Data from 845 screenings (433 female and 412 male athletes) were reviewed. Population specific tables of normative data were established for the Brunel mood scale and the perceived stress scale. Results: About 67% of athletes were injured each year, and about 18% were injured at the time of screening. Fifty percent of variance in stress scores could be predicted from mood scores, especially for vigour, depression, and tension. Mood and stress scores collectively had significant utility in predicting injury characteristics. Injury status (current, healed, no injury) was correctly classified with 39% accuracy, and back pain with 48% accuracy. Among a subset of 233 uninjured athletes (116 female and 117 male), five mood dimensions (anger, confusion, fatigue, tension, depression) were significantly related to orthopaedic incidents over the preceding 12 months, with each mood dimension explaining 6–7% of the variance. No sex differences in these relations were found. Conclusions: The findings support suggestions that psychological measures have utility in predicting athletic injury, although the relatively modest explained variance highlights the need to also include underlying physiological indicators of allostatic load, such as stress hormones, in predictive models.     

No association between ACE I/D polymorphism and cardiovascular hemodynamics during exercise in young women

The ACE I/D polymorphism has been shown to interact with habitual physical activity levels in postmenopausal women to associate with submaximal and with maximal exercise hemodynamics. This investigation was designed to assess the potential relationships between ACE genotype and oxygen consumption (VO2), cardiac output (Q), stroke volume (SV), heart rate (HR), blood pressure (BP), total peripheral resistance (TPR), and arteriovenous oxygen difference ([a-v]O2 diff) during submaximal and maximal exercise in young sedentary and endurance-trained women. Seventy-seven 18-35-yr-old women underwent a maximal exercise test and a number of cardiac output tests on a treadmill using the acetylene rebreathing technique. ACE genotype was not significantly associated with VO2max (II 41.4+/-1.2, ID 39.8+/-0.9, DD 39.8+/-1.1 ml/kg/min, p=ns) or maximal HR (II 191+/-2, ID 191+/-1, DD 193+/-2 bpm, p=ns). In addition, systolic and diastolic BP, (a-v)O2 diff, TPR, SV, and Q during maximal exercise were not significantly associated with ACE genotype. During submaximal exercise, SBP, Q, SV, HR, TPR, and (a-v)O2 diff were not significantly associated with ACE genotype. However, the association between diastolic BP during submaximal exercise and ACE genotype approached significance (p=0.08). In addition, there were no statistically significant interactions between ACE genotype and habitual physical activity (PA) levels for any of the submaximal or the maximal exercise hemodynamic variables. We conclude that the ACE I/D polymorphism was not associated, independently or interacting with habitual PA levels, submaximal, or maximal cardiovascular hemodynamics in young women.     

The ACTN3 gene in elite Greek track and field athletes

The study of genetic influence in the making of an Olympic champion is still in its nascence, but recent work has provided findings regarding the association of the ACTN3 gene on athletic performance. The aim of this study was to examine genetic differences among elite Greek track and field athletes by analysing a mononucleotide polymorphism in exon 15 of the ACTN3 gene. Results showed that ACTN3 genotype and allele frequencies in the top power-oriented athletes were statistically significantly different from those in a representative random sample of the Greek population: the frequency of the RR ACTN3 genotype in power-oriented athletes vs. the general population was 47.94 % vs. 25.97 %. This result was even more prominent for comparison of the subgroup of sprinters to controls. The results suggest an overall strong association between the presence of the RR genotype and elite power performance.     

Cumulative incidence of shoulder region tendon injuries in male former elite athletes

Some types of sports are thought to include a high risk for shoulder region tendon injuries but little data exist on long-term cumulative incidence of these injuries. The aim of our study was to investigate shoulder region tendon injuries diagnosed by physicians in former elite male athletes participating in sports including maximal overhead manoeuvres (overhead athletes) and also other athletes before the age of 45 years and within the subjects' lifetime, compared to control subjects. A postal questionnaire was sent in 2002 to male former elite athletes (n=785; mean age 68 years when responding to the questionnaire; overhead athletes n=111, others n=674) and control subjects (n=416; mean age 67 years). Overhead athletes had a higher risk for shoulder region tendinopathy before the age of 45 (adjusted odds ratio (OR) 4.1, 95% confidence interval (CI) 2.0-8.4, p<0.001) and within lifetime (OR 1.8, 95% CI 1.1-3.0, p=0.027) compared to control subjects. Compared to controls the risk for tendon rupture before the age of 45 (adjusted OR 4.4, 95% CI 1.3-14.8, p=0.016) and within lifetime (OR 2.0, 95% CI 1.0-6.9, p=0.041) was also high in overhead athletes. There was no difference in the risks of shoulder region tendon injuries between the other athletes and the control subjects. Our data indicate that shoulder region injuries are common in athletes participating in sports including maximal overhead manoeuvres and the long-term consequences of these injuries for athletes' daily life and functional ability should be determined.     

Dynamic balance in former elite male athletes and in community control subjects

Dynamic balance was studied in 105 former elite athletes (aged 45-68) and in 966 community control subjects (aged 27-67). Subjects walked barefoot along a 5-m-long test track, stepping only on two pads which they alternately put down in front of them and picked up from behind while standing on one foot. A better test result (short completion time) was associated with lower body mass index (in both groups), with jumping height and physical activity during the previous year (in former athletes), and with younger age, better general health, and better perceived physical fitness (in control subjects). Test results in former athletes were, on average, comparable to those of 24-30 years younger community control subjects.