Angiotensin-converting Enzyme ID Polymorphism Research Articles

Testing for the Association Between ACE DD (RS1799752) Polymorphism and the Metabolic Syndrome in Patients with Hypertension

High blood pressure (HBP) is a complex multifactorial condition which has a polygenic predisposition. The angiotensin-converting enzyme (ACE) is one of the candidate genes for HBP, and the ACE ID polymorphism with DD genotype presents a high risk for myocardial infarction, obesity (OB), stroke, type 1 diabetes mellitus (DM1), type 2 diabetes mellitus (DM2), diabetic nephropathy. The purpose of the study is to identify the high risk of developing MS in ACE DD gene (RS1799752) on the basis of clinical data, biochemical laboratory investigations, genotyping and sequencing of ACE gene in patients with HBP, by using the mathematical algorithm ANOVA One Way as a linear model, with the help of the MDR, Graph Pad Prism and MATLAB software. This study includes 68 subjects, selected from Giurgiu County Emergency Hospital based on clinical data, biochemical investigations, RFLP-PCR genotyping and Advanced NGx sequencing of the ACE gene with the DD genotype to identify the increased risk of developing metabolic syndrome (MS) in patients with hypertension. The results was taken by using as a linear model the mathematical algorithm ANOVA One Way using the programs MDR, Graph Pad Prism and MATLAB. In conclusion the ACE DD polymorphism is significantly associated with MS in patients with hypertension.

Prevalence of alpha actinin-3 gene (ACTN3) R577X and angiotensin converting enzyme (ACE) insertion / deletion gene polymorphisms in national and amateur Turkish athletes

Studies to date showed the importance of alpha- actinin-3 (ACTN3) R577X and angiotensin converting enzyme (ACE) ID polymorphisms on determining athletic performance. Therefore, in this study, we aimed to examine polymorphisms given to Turkish athletes and compare them with sedentary individuals. Genomic DNAs were extracted from peripheral blood by using commercially available DNA isolation kit (Macherey-Nagel, NucleoSpin®, Germany). For this study, a total of 84 volunteers (23 national athletes, 27 amateur athletes and 34 sedentary controls) was recruited. ACE ID genotypes were determined by conventional polymerase chain reaction, and ACTN3 R577X polymorphisms by polymerase chain reaction- restriction fragment length polymorphism methodology. In ACTN3 R577X polymorphism, RX was the dominating genotype, and we detected no RR genotype in national athletes. (no RR genotype was detected in national athletes) X allele is more frequent in national athletes and R allele was more frequent in both amateur athletes and control group. II genotype was more frequent in national athletes and in control group, whereas DD genotype was more frequent in amateur athletes for ACE ID polymorphism. When we consider alleles, D allele was found more frequently in amateur athletes and control group whereas I allele was more frequent in national athletes in ACE ID polymorphism. For ACTN3, X allele was superior to R allele. ACTN3 R577X and ACE ID polymorphisms were important biomarkers in determining athletic performance. However, our results in Turkish athletes suggest that ACE D allele and ACTN3 X alleles may be beneficial to athletes potentially, regardless of the distance they perform.

<i>ACE Insertion/Deletion (I/D)</i> Polymorphism in Hypertensive Patients of Palestinian Population

Hypertension is a risk factor for coronary heart disease, stroke, and renal failure; resulting from interaction of several genes with each other and with environmental factors. The renin-angiotensin system(RAS) plays an important role in the regulation of blood pressure. Angiotensin-converting enzyme (ACE) is an enzyme of the RAS. ACE ID gene polymorphism has been associated in the pathogenesis of cardiovascular diseases. The objective of this work was to determine the frequencies of the ACE gene alleles D and I and any associations to hypertension risk factors in Palestinian population. Genomic DNA was isolated from 293 subjects who have participated in a case–control study. ACE gene ID polymorphism was analyzed by polymerase chain reaction in 193 hypertension cases and 100 healthy controls. The frequency of ACE genotype were: DD 62.2%, II 6.7% and ID 31.1%,while as in control group the DD frequency is 54.0%, II 4. 0% and ID 42.0%. The frequencies of the ACE D and I alleles of the study population were 0.78 and 0.22for case group, 0.75 and 0.25 for control group respectively. There was no statistically significant difference between the groups with respect to genotype distribution. Furthermore, we did not find any significant difference in the frequency of ACE ID polymorphism in hypertension subjects when stratified by gender (p = 0.61).The results showed that there was no significant association between the ACE ID gene polymorphism and hypertension in Gaza strip.

Effect of ACE polymorphisms on the association between noise and hypertension in a Pakistani population

This study investigates the effect of angiotensin converting enzyme (ACE) polymorphisms on the association between noise and hypertension. A cross sectional study was conducted involving 385 male volunteers. In the control group 156 participants were exposed to a sound level of ≤ 80 dB; in the exposed group 229 individuals were exposed to a sound level ≥ 80 dB. Both groups were subdivided into categories on the basis of blood pressure. A polymerase chain reaction (PCR)-based strategy was used to differentiate the various genotypes of ACE ID and ACE G2350A. Association of noise with genotypes as modifiers was estimated after adjustment of data for age and body mass index. These showed the following odds ratios (OR) with 95% confidence interval (CI) indicating that noise is associated with hypertension in a Pakistani population (OR: 3.196; CI: 1.803-5.666). ACE ID and ACE G2350A polymorphism affects this association. ID (OR: 2.844: CI: 1.32-6.110) and DD allele carriers (OR: 4.487; CI: 1.549-12.99) were at increased risk of hypertension. GG (OR: 3.970; CI: 1.628-9.681) and GA (OR: 3.705; CI: 1.407-9.758) carriers were also at increased risk of hypertension associated with noise. However II and AA allele carriers were not found to be at increased risk of hypertension. ACE ID polymorphism and ACE G2350A polymorphism modulates the effects of noise on blood pressure.

Relationship between genetic polymorphisms of angiotensin-converting enzyme and methylenetetrahydrofolate reductase as risk factors for type 2 diabetes in Tunisian patients

Background/aims The role of methylenetetrahydrofolate reductase (MTHFR) and angiotensin-converting enzyme (ACE) gene polymorphisms as being risk factors for diabetes is still controversial. The aim was to investigate the distribution of ACE and MTHFR genotypes as well as to evaluate the role of plasmatic total homocysteine levels (tHcy) and ACE activity in Tunisian patients with type 2 diabetes mellitus (T2DM). Design and methods 115 T2DM patients compared to 116 healthy volunteers. Results The ACE I/D polymorphism was significantly associated with diabetes ( p < 0.0001). The DD genotype and D allele were more frequent in patients compared to control group [DD: OR = 4.93; p < 0.0001; 95 % CI: 2.71–8.97; D: OR = 3.08, 95% CI: 2.09–4.51 p < 0.0001]. MTHFR allele and genotype frequencies did not differ between patients and controls. The susceptibility to diabetes in individuals with genotypes DD +vTT was 13.39 and in the individuals with DD + CT was 6.57 times that of the controls. However, individuals with genotypes ID + CC or II + CT have a protective effect against diabetes. The DD and TT genotypes were associated with significantly higher ACE activity and tHcy levels in diabetics. Conclusion Our data suggest that ACE ID polymorphism may act synergistically with MTHFR C677T polymorphism to assess diabetes risk.

The ACE Insertion Deletion polymorphism relates to dementia by metabolic phenotype, APOEɛ4, and age of dementia onset

The renin-angiotensin system (RAS) may play a role in dementia pathogenesis because of its effects on vascular and metabolic homeostasis, amyloid metabolism, and learning and memory. The angiotensin-converting enzyme (ACE), a pivotal RAS protein, is encoded for by a gene containing a functional ID variant, which has been related to dementia risk. We examined the relationship between the ACE Insertion Deletion (ACE ID) variant and dementia with consideration for metabolic phenotypes, age and APOEepsilon4 using a population-based, cross-sectional sample of 891 Swedish women and men aged 70-92 years, of whom 61 people were demented. The odds of dementia was two-fold higher among those with ACE II genotype, and ranged from 2.18 to 4.35 among those with dementia onset <or=70 years, an APOEepsilon4 allele, systolic blood pressure <160 mmHg, body mass index <25 kg/m(2), and in women only, waist circumference <or=88 cm and hip circumference <101 cm. Variations among reports on the relationship between the ACE ID polymorphism and dementia may be due to lack of consideration for gene-gene and gene-phenotype associations.

Relationship between angiotensin-converting enzyme ID polymorphism and VO 2max of Chinese males

Several studies have shown that the angiotensin-converting enzyme ( ACE) I allele is associated with enhanced physical performance. We investigated whether this phenomenon is observed in a cohort of 67 Chinese men in Singapore. Angiotensin-converting enzyme ID polymorphism was typed with PCR method and maximal oxygen uptake (VO 2max) of the DD, ID, and II genotypes was compared. Analysis of covariance revealed that VO 2max was significantly higher ( p<0.05) for the DD genotype (57.86 ± 3.5 ml.kg. −1min −1) versus the ID (50.58 ± 1.80 ml.kg. −1min −1) or II (50.48 ± 1.58 ml.kg. −1 min −1) genotype. Our findings suggest that the ACE DD genotype in young adult Chinese males is associated with higher levels of VO 2max.

No association between the angiotensin-converting enzyme ID polymorphism and elite endurance athlete status.

Several studies have reported that the insertion (I) allele of the angiotensin-converting enzyme (ACE) I/deletion (D) polymorphism is associated with enhanced responsiveness to endurance training and is more common in endurance athletes than in sedentary controls. We tested the latter hypothesis in a cohort of 192 male endurance athletes with maximal oxygen uptake >/=75 ml. kg(-1). min(-1) and 189 sedentary male controls. The ACE ID polymorphism in intron 16 was typed with the three-primer polymerase chain reaction method. Both the genotype (P = 0.214) and allele (P = 0.095) frequencies were similar in the athletes and the controls. Further analyses in the athletes revealed no excess of the I allele among the athletes within the highest quartile (> 80 ml. kg(-1). min(-1)) or decile (>83 ml. kg(-1). min(-1)) of maximal oxygen uptake. These data from the GENATHLETE cohort do not support the hypothesis that the ACE ID polymorphism is associated with a higher cardiorespiratory endurance performance level.

Angiotensin-converting enzyme ID polymorphism and fitness phenotype in the HERITAGE Family Study.

It has been suggested that genetic variation in the angiotensin-converting enzyme (ACE) gene is associated with physical performance. We studied the association between the ACE insertion (I)/deletion (D) polymorphism and several fitness phenotypes measured before and after 20 wk of a standardized endurance training program in sedentary Caucasian (n = 476) and black (n = 248) subjects. Phenotypes measured were oxygen uptake (VO(2)), work rate, heart rate, minute ventilation, tidal volume, and blood lactate levels during maximal and submaximal [50 W and at 60 and 80% of maximal VO(2) (VO(2 max))] exercise and stroke volume and cardiac output during submaximal exercise (50 W and at 60% VO(2 max)). The ACE ID polymorphism was typed with the three-primer PCR method. Out of 216 association tests performed on 54 phenotypes in 4 groups of participants, only 11 showed significant (P values from 0.042 to 0. 0001) associations with the ACE ID polymorphism. In contrast to previous claims, in Caucasian offspring, the DD homozygotes showed a 14-38% greater increase with training in VO(2 max), VO(2) at 80% of VO(2 max), and all work rate phenotypes and a 36% greater decrease in heart rate at 50 W than did the II homozygotes. No associations were evident in Caucasian parents or black parents or offspring. Thus these data do not support the hypothesis that the ACE ID polymorphism plays a major role in cardiorespiratory endurance.