Angiotensin-converting Enzyme Gene Polymorphism Research Articles

Association of angiotensin converting enzyme gene insertion/deletion polymorphism with essential hypertension in south Indian population

Genetic, environmental and demographic factors contribute to the development of essential hypertension. Genetic polymorphism of Rennin-angiotensin-aldosterone system (RAAS) has been extensively studied to determine the genetic susceptibility to hypertension. The insertion/deletion (I/D) angiotensin converting enzyme (ACE) polymorphism has been established as a cardiovascular risk factor in some population, but its association with essential hypertension is controversial. This study sought to determine the association of I/D polymorphism of the ACE gene in south Indian essential hypertensive subjects. A total of 208 clinically diagnosed essential hypertensive patients without any associated diseases and 220 healthy control subjects were included in this study. Distribution and allelic frequency of Insertion (I) and Deletion (D) polymorphism at the 287 base pair Alu repeat sequence in the intron 16 of ACE gene were analyzed. The distribution of II, ID, DD genotypes of ACE gene was 28.3%, 32.6% and 38.9% respectively in essential hypertensive patients and to 53.6%, 26.3% and 20% in controls. The allele frequency for D allele is 0.58 in essential hypertension as compared to 0.34 of control subjects. The genotype and allele frequency of ACE gene polymorphism is significantly differed in patients when compared to controls. In conclusion, the I/D polymorphism of ACE gene is associated with Indian essential hypertension.

Association of ACE <i>DD</i> Genotype with Hypertension among the Tribal Populations of South India

The Renin-Angiotensin System (RAS) is an important regulator of the blood pressure (BP). The level of the vasoactive peptide Angiotensin-II, is mainly determined by the RAS enzyme, angiotensin converting enzyme-1 (ACE-1). Polymorphisms in ACE gene is reported to be associated with hypertension in various populations worldwide. We investigated the association of ACE I/D polymorphisms with hypertension among the tribal populations of South India. Samples were collected from hypertensive patients (n = 33) and healthy controls (n = 37). Genotyping was performed using Polymerase chain reaction (PCR) with allele specific primers. The DD genotype is significantly observed among the cases (OR = 1.0). Specifically, the DD genotype is more evident among the females (OR = 0 .705) than males (OR = 1.22) and is analysed to be associated with hypertension among the tribal populations of South India.

Association of ACE <i>DD</i> Genotype with Hypertension among the Tribal Populations of South India

The Renin-Angiotensin System (RAS) is an important regulator of the blood pressure (BP). The level of the vasoactive peptide Angiotensin-II, is mainly determined by the RAS enzyme, angiotensin converting enzyme-1 (ACE-1). Polymorphisms in ACE gene is reported to be associated with hypertension in various populations worldwide. We investigated the association of ACE I/D polymorphisms with hypertension among the tribal populations of South India. Samples were collected from hypertensive patients (n = 33) and healthy controls (n = 37). Genotyping was performed using Polymerase chain reaction (PCR) with allele specific primers. The DD genotype is significantly observed among the cases (OR = 1.0). Specifically, the DD genotype is more evident among the females (OR = 0 .705) than males (OR = 1.22) and is analysed to be associated with hypertension among the tribal populations of South India.

Synergistic Effects of ACE Insertion/Deletion and GNB3 C825T Polymorphisms on the Efficacy of PDE-5 Inhibitor in Patients with Pulmonary Hypertension

Background: The insertion/deletion (I/D) polymorphism in the angiotensin-converting enzyme gene (ACE) and the C825T polymorphism in the G-protein β3 subunit gene (GNB3) are associated with the efficacy of phosphodiesterase-5 inhibitor (PDE-5I) in erectile dysfunction. In addition, GNB3 genotypes could be associated with clinical worsening in pulmonary hypertension (PH) treated with PDE-5I. However, no studies have described the synergistic effects of gene polymorphisms on drug efficacy in patients with PH. Objectives: We aimed to examine the effects of combined ACE/GNB3 polymorphisms on the efficacy of PDE-5I in patients with PH. Methods: This was a retrospective uncontrolled study. Ninety patients with pulmonary arterial hypertension (PAH) or chronic thromboembolic PH (CTEPH) were treated with PDE-5I. Freedom from clinical worsening and pre- and post-treatment parameters, including the 6-min walk distance (6MWD) and serum brain natriuretic peptide (BNP) levels, were compared between patients with ACE/GNB3 II/TT and non-II/TT genotypes. Results: Time to clinical worsening was significantly longer in patients with the II/TT genotype than in those with the non-II/TT genotype (5-year freedom from clinical worsening: 100 vs. 48.8%, respectively; p = 0.018), even in patients with CTEPH alone. Post-treatment 6MWD and BNP levels in patients with the II/TT genotype tended to be better than those in patients with the non-II/TT genotype. The ACE/GNB3 genotype was a significant predictor of clinical worsening, even after adjusting for pulmonary vascular resistance and 6MWD. Conclusions:ACE and GNB3 polymorphisms may synergistically influence the efficacy of PDE-5I in patients with PH.

Genetic risk of type 2 diabetes in populations of the African continent: A systematic review and meta-analyses

BackgroundType 2 diabetes (T2D) is growing faster in Africa than anywhere else, driven by the dual effects of genetic and environmental factors. We conducted a systematic review and meta-analyses of published studies on genetic markers of T2D in populations within Africa. MethodsMultiple databases were searched for studies of genetic variants associated with T2D in populations living in Africa. Studies reporting on the association of a genetic marker with T2D or indicators of glycaemia were included. Data were extracted on study design and characteristics, genetic determinants, effect estimates of associations with T2D. FindingsOverall, 100 polymorphisms in 57 genes have been investigated in relation with T2D in populations within Africa, in 60 studies. Almost all studies used the candidate gene approach, with >88% published during 2006–2014 and 70% (42/60) originating from Tunisia and Egypt. Polymorphisms in ACE, AGRP, eNOS, GSTP1, HSP70-2, MC4R, MTHFR, PHLPP, POL1, TCF7L2, and TNF-α gene were found to be associated with T2D, with overlapping effect on various cardiometabolic traits. The polymorphisms investigated in multiple studies mostly had consistent effects across studies, with only modest or no statistical heterogeneity. Effect sizes were modestly significant [e.g., odd ratio 1.49 (95%CI 1.33–1.66) for TCF7L2 (rs7903146)]. Underpowered genome-wide studies revealed no diabetes risk loci specific to African populations. InterpretationCurrent evidence on the genetic markers of T2D in African populations mostly originate from North African countries, is overall scanty and largely insufficient to reliably inform the genetic architecture of T2D across Africa.

Impact of I/D polymorphism of ACE gene on risk of development and course of chronic obstructive pulmonary disease.

IntroductionChronic obstructive pulmonary disease (COPD) affects more than 10% of the world's population over 40 years of age. The main exogenous risk factor is cigarette smoking; however, only 20% of smokers develop COPD, indicating that some other factors, e.g. genetic, may play an important role in the disease pathogenesis. Recent research indicates that ACE (angiotensin-converting enzyme) may be a susceptibility gene for asthma or COPD. The aim of our study was to determine the influence of I/D (insertion/deletion) polymorphism of the ACE gene (AluYa5, rs4646994) on the risk and course of COPD.Material and methodsWe investigated ACE I/D polymorphism in 206 COPD and 165 healthy Caucasian subjects.ResultsIn the generalized linear model (GLZ) analysis of the influence of selected factors on presence of COPD we found a significant independent effect for male sex (repeatedly increases the risk of COPD, OR = 7.7, p = 0.049), as well as smoking or lower body mass index, but only in combination with older age (OR = 0.96, p = 0.003 and OR = 1.005, p = 0.04 respectively). Interestingly, analysis of factors which may influence the risk of a higher number of exacerbations demonstrated that occurrence of DD genotype, but only in men, is associated with a lower risk (OR = 0.7, p = 0.03) of this complication.ConclusionsWe suggest that ACE may not be a susceptibility gene for the origin of COPD but a disease-modifying gene. Since the impact of I/D polymorphism of the ACE gene on COPD risk is moderate or negligible, other molecular changes, that will help predict the development of this disease, should still be sought.

Association of Angiotensin Converting Enzyme Gene Polymorphism and Possible High Risk Factors with Essential Arterial Hypertension in Egyptian Patients

Background: Hypertension (HT) is a public health challenge due to its high prevalence, and being a major risk factor for cardiovascular diseases. HT is a multifactorial disorder with genetic and environmental interactive factors. Aim: This study aims to evaluate association of angiotensin converting enzyme gene polymorphism (I/D) with blood pressure among Egyptian patients with essential hypertension and the interrelationship with other clinical parameters. Subjects and methods: Eighty four patients with essential hypertension were included in this cross sectional descriptive study. Venous blood samples were withdrawn for DNA extraction, determination of different genotypes of ACE gene (I/D) polymorphism by polymerase chain reaction (PCR) and measuring serum ACE levels, lipid profile, blood sugar and creatinin. Results: The frequency of different ACE genotypes were; 41.7% homozygous (DD), 45.2% heterozygous (ID) and 13.1% homozygous (II) indicating that (D) allele is significantly associated with essential hypertension. Also serum ACE level was significantly correlated with ACE (I/D) polymorphism (p=0.001). Patients with DD genotype had the highest serum ACE level followed by patients with ID genotype and patients with II genotype had the lowest serum ACE level. Conclusion: ACE (I/D) polymorphism is associated with increased serum ACE activity and consequently with increased risk for essential hypertension and its complications.

Angiotensin-converting enzyme gene polymorphism in migraine

Background The pathophysiology of migraine is influenced by many factors. Multiple genetic and environmental factors may contribute to the etiology of migraine. The beneficial effects of angiotensin-converting enzyme (ACE) inhibitor drugs on migraine attack frequency have been shown, and hence ACE gene polymorphism was studied for its possible effect on migrainous patients. Objective We aimed to study the relationship between the ACE gene polymorphism and migraine pathophysiology. Patients and methods The ACE genotypes of 30 migraine patients (17 cases of migraine without aura and 13 cases of migraine with aura) and 30 age-matched and sex-matched normal volunteers as a control group were studied. All patients were subjected to full clinical assessment to calculate the score on the Migraine Disability Assessment Test as an indicator of the severity of migraine and its impact on the patient life. Results The frequency of DD genotype of ACE gene was significantly higher in migraine patients, including both cases of migraine with aura and those without aura compared with the control group, but no association was found between any of the genotypes of ACE gene and the degree of migraine severity or disability. Conclusion ACE gene polymorphism may confer risk for the occurrence of migraine attacks, without affecting the symptomology or the severity of migraine.

Association of polymorphisms in angiotensin-converting enzyme gene with gestational diabetes mellitus in Indian women.

Background:Numerous genes have been reported in relation with gestational diabetes mellitus (GDM), but the findings were not consistently replicated across populations, or there have been no detailed studies on them. Previous literatures suggested that, out of all angiotensin converting enzyme (ACE) gene polymorphisms, only ACE insertion/deletion (I/D) gene polymorphism has a strong association with GDM in Asian Indian women.Aim:This study was devoted to evaluate the association of four single nucleotide polymorphisms (SNPs) ACE A240T, C1237T, G2350A and I/D with GDM and Type 2 diabetes mellitus.Materials and Methods:This study recruited 105 GDM cases, 119 Type 2 diabetes mellitus subjects and 120 controls. PCR-RFLP was used for identifying genotypes of ACE A240T, C1237T and G2350A and PCR was performed in the case of ACE I/D.Results:Significant associations of ACE SNP's, C1237T, and G2350A with GDM were observed. Haplotype analysis revealed the remarkably significant evidence of association with SNP combination ACE A240T, C1237T, G2350A, and I/D with GDM patients (P = 0.024). Individuals possessing haplotype “TTAI” (frequency 30% in GDM and 0 in controls) derived from these SNPs had 185 fold increased risk of developing GDM (95% of confidence interval: 11.13–3102.15), which was highest when compared with other 15 haplotypes.Conclusion:Shorter-range haplotypes were also significant, but the only consistently associated alleles were found to be in ACE C1237T, G2350A, and I/D. These results suggested that the variant in close proximity to ACE C1237T, G2350A and/or I/D modulates susceptibility to GDM and noninsulin dependent diabetes mellitus in Indian women.

ASSOCIATION OF MTHFR (C677T) AND ACE (I/D) POLYMORPHISMS WITH HYPERTENSION AND RESPONSE TO TREATMENT AMONG EGYPTIAN PATIENTS

Hypertension, a well-known epidemic health disease, is risk factor for various cardiovascular, peripheral vascular and renal diseases. Renin angiotensin system (RAS) being the most important pathogenic mechanism of hypertension is mediated by a key component; the angiotensin converting enzyme (ACE). Moreover, Mutations in the methylenetetrahydrofolate reductase gene (MTHFR) have been established to be associated with the risk of cardiovascular disease as well as hypertension. This case-control study was conducted out to investigate the potential relationship of ACE (I/D) and MTHFR (C677T) gene polymorphisms with hypertension susceptibility and the responsive ability of antihypertensive drugs in Egyptian hypertensive patients. Thirty six patients suffering of high blood pressure were compared with age and sex matching 14 control cases. MTHFR (C677T) and ACE (I/D) polymorphisms were genotyped by polymerase chain reaction (PCR). The demographic and clinical features of patients and control showed no particular significance (p > 0.05) except for the consanguinity and the obesity. For MTHFR polymorphism frequency, total hypertensive cases showed significantly higher frequency rate for the mutant allele 677T compared to controls with a lower frequency of the wild type 677CC genotype. Whereas the mutant 677TC+TT genotypes were not significantly associated with the hypertension risk when compared to the wild genotype among the case group. For ACE gene polymorphism, also showed only higher frequency rates of DD allele. Interestingly, ACE DD genotype showed significant association with blood pressure, obesity and diabetes. Finally in response of the antihypertensive drugs, we found that, the best responsive group is DD genotype group when treated with the ACE inhibitors. These result suggested that the MTHFR polymorphism was not associated with hypertension while the ACE DD genotype may be associated with essential hypertension and considered as a potent risk factor for hypertension and moreover it is the best responsive group when treated with ACE inhibitors in Egyptian patients.

Association between the alpha-actinin-3 and angiotensin-converting enzyme gene polymorphisms and middle power in elite male collegiate judo athletes

Association between the alpha-actinin-3 and angiotensin-converting enzyme gene polymorphisms and middle power in elite male collegiate judo athletes

Association Between Angiotensin Converting Enzyme Gene Insertion\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\Deletion Polymorphism and Coronary Heart Disease in Gaza Strip

The insertion deletion (ID) polymorphism in intron 16 of the ACE gene is a marker for a functional polymorphism, and it is also reported to influence levels of ACE in healthy subjects. ACE ID polymorphism is associated with an elevated risk of thrombosis and may be causally associated with coronary heart disease (CHD). To investigate the association between ACE gene polymorphism and CHD in the Gaza strip population, we conducted case-control study included 260 samples comprised 160 CHD patients and 100 control subjects. Questionnaire interview was applied. Blood samples were collected in EDTA tube for DNA extraction. Polymerase Chain Reaction (PCR) used to detect ACE ID polymorphism. There was significant association between CHD and age, physical activity, education level, occupation, and family history of CHD. No significant association was observed between CHD and gender and smoking. The genotype frequencies were: ID (36.9%, 42%), DD (53.8%, 54%) and II (9.4%, 4%) in case and control groups respectively. The ACE ID allele frequencies were: I (27%, 25%) and D (72.2%, 75%) in case and control group respectively. The D allele was the most frequent allele in both groups. No association between ACE ID polymorphism and gender. The DD genotype was the most frequent in both study groups. There was no statistically significant association between the ACE ID polymorphism and CHD in Gaza strip. The results showed that there was no significant association between the ACE ID gene polymorphism and CHD in Gaza strip.

Этногенетические аспекты ожирения и нарушений углеводного обмена как факторов риска артериальной гипертензии

Objective - to explore the association of candidate genes of arterial hypertension ACE, ADRA2B, ADRB1, MTHFR and eNOS with obesity and impaired glucose metabolism based on ethnicity. Materials and methods. Clinical and epidemiological study of compactly living population in the remote areas of the Mountain Shoria (Orton, Ust-Kabyrza, Sheregesh settlements, Kemerovo region). 1178 residents of these settlements were surveyed with the help of continuous sampling method; the sample consisted of adults (18 years and older). Results. In the group of respondents of the indigenous nationality averages Quetelet index, waist circumference and fasting blood glucose, depending on the polymorphism of candidate genes of arterial hypertension ACE, ADRA2B, ADRB1, MTHFR and eNOS were lower than in non-indigenous ethnic group surveyed. In a population of Shor was found a statistically significant relationship with the body mass index of ACE gene genotypes in a population of non-indigenous representatives - with genotypes of ADRA2B gene. In the group of indigenous ethnic group revealed the relationship from ACE gene polymorphism. Regardless of nationality, found associative connection of the indicator polymorphism of ADRA2B gene. The level of plasma glucose levels in a population of non-indigenous ethnic group was correlated with genotypes of ADRA2B gene. Conclusion. Metabolic abnormalities were detected less frequently in indigenous ethnic group compared with the non-indigenous. In Shor group ACE DD genotype and ADRA2B genes associated with obesity, the genotype 4a/4a eNOS gene - with abdominal obesity. In the group of non-indigenous ethnic group CC genotype of the MTHFR gene was associated with abdominal obesity, II genotype of ACE gene and DD ADRA2B gene - with impaired carbohydrate metabolism.

The angiotensin converting enzyme (ace) gene polymorphism: Insight study of the renal regulation of the arterial blood pressure

Since the renin-angiotensin-aldosterone system (RAAS) was originally described, it has become one of the best described hormonal systems, especially regarding the fact that it plays an important role in regulating blood volume and systemic vascular resistance, and thus indirectly influencing blood pressure (BP). On the other hand, arterial hypertension is one of the most pertinent disorders which plays an important role, not only in the progression of renal failure, but also represents a risk factor for the occurrence of end stage renal disease. Several epidemiological studies pointed out the fact that genetic predisposition accounts for about 30% of the BP variability. Up to date, there are several RAAS genes that may have effect in long-term BP control, but ACE is the most important and the most thoroughly examined. In this review, we present available data regarding the influence of gene polymorphisms of ACE on its function, within the RAAS related BP regulation. Therefore, by specially describing all its potential physiological roles, it will likely offer a new insight in the renal regulation of the BP, along with its other, not less important, roles.

Influence of Angiotensin-Converting-Enzyme Gene Polymorphism on Echocardiographic Data of Patients with Ischemic Heart Failure.

BackgroundAssociation between angiotensin-converting-enzyme (ACE) gene polymorphisms and different clinical and echocardiographic outcomes has been described in patients with heart failure (HF) and coronary artery disease. Studying the genetic profile of the local population with both diseases is necessary to assess the occurrence of that association.ObjectivesTo assess the frequency of ACE gene polymorphisms in patients with ischemic HF in a Rio de Janeiro population, as well as its association with echocardiographic findings.MethodsGenetic assessment of I/D ACE polymorphism in association with clinical, laboratory and echocardiographic analysis of 99 patients.ResultsThe allele frequency was: 53 I alleles, and 145 D alleles. Genotype frequencies were: 49.5% DD; 47.48% DI; 3.02% II. Drug treatment was optimized: 98% on beta-blockers, and 84.8% on ACE inhibitors or angiotensin-receptor blocker. Echocardiographic findings: difference between left ventricular diastolic diameters (ΔLVDD) during follow-up: 2.98±8.94 (DD) vs. 0.68±8.12 (DI) vs. -11.0±7.00 (II), p=0.018; worsening during follow-up of the LV systolic diameter (LVSD): 65.3% DD vs. 19.0% DI vs. 0.0% II, p=0.01; of the LV diastolic diameter (LVDD): 65.3% DD vs. 46.8% DI vs. 0.0% II, p=0.03; and of the LV ejection fraction (LVEF): 67.3% DD vs. 40.4% DI vs. 33.3% II, p=0.024. Correlated with D allele: ΔLVEF, ΔLVSD, ΔLVDD.ConclusionsMore DD genotype patients had worsening of the LVEF, LVSD and LVDD, followed by DI genotype patients, while II genotype patients had the best outcome. The same pattern was observed for ΔLVDD.

ANGIOTENSIN-CONVERTING ENZYME AND ITS GENE POLYMORPHISM (I/D) IN ESSENTIAL ARTERIAL HYPERTENSION

The polymorphisms of ACE gene has been investigated using polymerase chain reaction for detection of ACE I/D genotype frequency in hypertensive cases in sector of Egyptian population. Serum ACE is significant higher in hypertensive group than normotensive one (27.5± 4.4 and 21.3± 5.4 ng/m respectively. Means SBP (systolic blood pressure), DBP (diastolic blood pressure) and urinary protein excretion in DD genotype were 181±17 mmHg, 112±19mmHg, 38±4.8mg/dl and 141.5± 36.8mg/24h respectively but, in II genotype were 142± 10 mmHg, 99± 13 mmHg, 43.5±4 mg/dl and 116.4± 36 mg/24h respectively. In hypertensive patients, serum ACE levels in DD, ID and II genotypes were 36.2± 5.7, 22.1± 3.7 and 24.5± 4.9 respectively. D/D ACE gene polymorphism plays a role in the development of target organ damage in sever essential hypertension and might have a prognostic value. It can be considered as one of risk factor of hypertension.

Role of ACE and PAI-1 Polymorphisms in the Development and Progression of Diabetic Retinopathy.

In the present study we determined the association of angiotensin converting enzyme (ACE) and plasminogen activator inhibitor-1 (PAI-1) gene polymorphisms with diabetic retinopathy (DR) and its sub-clinical classes in Pakistani type 2 diabetic patients. A total of 353 diabetic subjects including 160 DR and 193 diabetic non retinopathy (DNR) as well as 198 healthy controls were genotyped by allele specific polymerase chain reaction (PCR) for ACE Insertion/Deletion (ID) polymorphism, rs4646994 in intron 16 and PAI-1 4G/5G (deletion/insertion) polymorphism, rs1799768 in promoter region of the gene. To statistically assess the genotype-phenotype association, multivariate logistic regression analysis was applied to the genotype data of DR, DNR and control individuals as well as the subtypes of DR. The ACE genotype ID was found to be significantly associated with DR (p = 0.009, odds ratio (OR) 1.870 [95% confidence interval (CI) = 1.04–3.36]) and its sub-clinical class non-proliferative DR (NPDR) (p = 0.006, OR 2.250 [95% CI = 1.098–4.620]), while PAI polymorphism did not show any association with DR in the current cohort. In conclusion in Pakistani population the ACE ID polymorphism was observed to be significantly associated with DR and NPDR, but not with the severe form of the disease i.e. proliferative DR (PDR).

Propranolol versus captopril in the treatment of infantile hemangioma (IH): A randomized controlled trial

Renin-angiotensin system components have been demonstrated in the biology of infantile hemangioma (IH). Captopril, an angiotensin-converting enzyme inhibitor, is proposed as a therapeutic alternative to oral propranolol. We sought to compare the benefit of propranolol and captopril in the treatment of IH, and to assess angiotensin-converting enzyme gene polymorphism in patients with IH and in control subjects. Thirty patients with IH and 35 healthy control subjects were enrolled in this study. Patients were randomly assigned to treatment with either propranolol or captopril. Assessment was done clinically and by measurement of serum vascular endothelial growth factor and angiotensin II in patients and control subjects. Angiotensin-converting enzyme gene polymorphism was also studied. Clinical improvement was significantly better and faster in the patients treated with propranolol. Both groups showed reduced vascular endothelial growth factor and angiotensin II levels posttreatment, with a significantly higher percentage reduction in the propranolol-treated group. Cardiac side effects were reported only in the captopril-treated group. Baseline vascular endothelial growth factor level was significantly higher, and baseline angiotensin II level was significantly lower, in patients than control subjects. We studied a relatively small number of patients and control subjects. Propranolol shows greater benefit than captopril in the treatment of IH.

Angiotensin-Converting Enzyme Gene Insertion/Deletion Polymorphism in Patients with Pulmonary Thromboembolism

The aim of the present study is to investigate the relationship between angiotensin-converting enzyme (ACE) gene polymorphism and pulmonary embolism by comparing the frequency of ACE gene polymorphism between cases diagnosed with pulmonary embolism with that of the control group. The study included 73 patients and 73 healthy subjects as the control group. Isolated DNAs were genotyped using the polymerase chain reaction (PCR) method for the identification of the ACE insertion/deletion (I/D) polymorphism. The genotypes were determined according to the bands observed in the agarose gel electrophoresis. The frequency of ID genotype was 39.7 percent, the frequency of insertion/insertion (II) genotype was 17.8 percent, and the frequency of the deletion/deletion (DD) genotype was 42.5 percent in the patient group. In the control group, the frequency of the II genotype was 21.9 percent, the frequency of the ID genotype was 38.4 percent, and the frequency of the DD genotype was 39.7 percent. There were no statistically significant differences between the patient group and the control group in terms of the frequencies of II, ID, and DD genotypes (p > 0.05). The findings of the present study showed no association between ACE gene polymorphism and the risk of developing the pulmonary embolism. Due to the limited number of patients however, these results must be confirmed by further studies incorporating larger series of patients.

ACE and ACTN3 genes polymorphisms among female Hungarian athletes in the aspect of sport disciplines.

The aim of the study was to determine the importance of two sport-associated gene polymorphisms, alpha-actinin-3 R577X (ACTN3) and angiotensin-converting enzyme I/D (ACE), among Hungarian athletes in different sports. The examination was carried out only on women (n = 100). Sport-specific groups were formed in order to guarantee the most homogeneous clusters. Human genomic DNA was isolated from blood, and genotyping was performed by polymerase chain reaction. To measure the differences between the participating groups, Chi-squared test was performed using Statistica 9.0 for Windows® (significance level: p < 0.05). In comparing the ACE I/D allele frequencies, significant difference was detected between water polo (I = 61.11%; D = 38.89%) and combat sports (I = 35.71%, D = 64.29%) athletes (p < 0.03). There was no statistical difference when ACE I/D alleles in combat sports and kayaking/rowing (p > 0.05) were compared. A similarity was detectable in the I allele frequencies of the water polo (61.11%) and kayaking/rowing (56.67%) groups. The ACTN3 R/X polymorphism showed no differences in comparison with the sport groups. R allele frequencies were higher in every group compared to the X allele. The potential significance of the ACE I allele in sports of an aerobic nature was not clearly confirmed among Hungarian athletes.