Genetic Polymorphism Of Angiotensin-converting Enzyme Research Articles

Angiotensin-Converting Enzyme Genetic Polymorphism rs4343 as Risk of Diabetic Nephropathy in Jambi-Malay Population

Background: Diabetic nephropathy (DN) is one of the frequent complications of type II diabetes mellitus (T2DM) in Jambi province. Controlling blood glucose and blood pressure does not guarantee DN prevention, since genetic factors may also contribute to this disease. Multi-ethnic studies showed that one of the strongest genetic factors associated with DN was single nucleotide polymorphism rs4343 of angiotensin-converting enzyme (ACE) gene. Study regarding phenotype-genotype association of ACE rs4343 and DN has not yet been performed in Jambi Province, which is dominated by Malay ethnicity. This study was conducted to reveal the association between ACE rs4343 and the risk of DN in the Jambi-Malay population.Materials and methods: This was a cross-sectional study involving 75 subjects (44 with DN and 31 without DN) who suffered from T2DM and hypertension. DN was defined as albumin to creatinine ratio (ACR) ≥30 mg/g. Genotyping was performed with one-step tetra amplification refractory mutation system-polymerase chain reaction (PCR) using specific primer for ACE rs4343. Bivariate and multivariate analyses were performed to analyze the genetic risk for DN.Results: The bivariate analysis showed the proportion of DN subjects was higher than non-DN within the AG genotype (11:1) than within the AA (33:30) genotype. This difference was statistically significant (p=0.012; OR (95% CI): 10.00 (1.22-82.15)). Multivariate analysis showed that AG genotype (p=0.047; OR (95% CI): 10.04 (1.03-97.31)) and uncontrolled blood pressure (p=0.001; OR (95% CI): 6.72 (2.08-21.71)) were the risk factors of DN in the Jambi-Malay population.Conclusion: Polymorphism of ACE rs4343 is a risk factor of DN in the Jambi-Malay Population.Keywords: rs4343, angiotensin-converting enzyme gene, diabetic nephropathy, Malay, Jambi

Severity of coronavirus disease 19: Profile of inflammatory markers and ACE (rs4646994) and ACE2 (rs2285666) gene polymorphisms in Iraqi patients

Susceptibility to coronavirus disease 2019 (COVID-19) and disease severity has recently been associated with inflammatory markers and genetic polymorphisms of ACE (angiotensin-converting enzyme) and ACE2 genes, but the evidence has been inconclusive. This case-control study (99 COVID-19 patients and 96 controls) sought to assess the significance of age, C-reactive protein (CRP), neutrophil-to-lymphocyte ratio (NLR) and SARS-CoV-2 RT-PCR cycle threshold (Ct) in severity of COVID-19. Besides, two variants of ACE and ACE2 genes (rs4646994 and rs2285666, respectively) were analyzed to determine their role in COVID-19 susceptibility and/or disease severity. Results revealed that age, CRP and NLR were significantly elevated in severe cases compared to moderate cases, while RT-PCR Ct value was significantly decreased. Allele and genotypes of both variants were not associated with COVID-19 risk, with the exception of rs2285666 A allele. It showed a significantly higher frequency in female patients than in female controls (probability = 0.041). In conclusion, the study indicated the role of age, CRP, NLR and SARS-CoV-2 RT-PCR Ct in susceptibility to COVID-19 severity. However, analysis of the ACE and ACE2 gene variants (rs4646994 and rs2285666, respectively) showed that the two variants were not associated with the risk of developing COVID-19.

ACE insertion/deletion genetic polymorphism, serum ACE levels and high dietary salt intake influence the risk of obesity development among the Saudi adult population

Introduction:Angiotensin-converting enzyme (ACE), which contributes to adipocyte growth, differentiation and function, has recently been linked with both salt metabolism and obesity development. Therefore, this study has aimed to investigate the putative relationship between ACE genetic polymorphism, serum ACE levels and salt consumption on the risk of developing obesity in the Saudi population.Materials and methods:ACE genotype status of 267 adult Saudi volunteers (124 obese and 143 non-obese) was correlated with their serum ACE activity and dietary salt intake amounts.Results:Obesity was more prevalent in deletion-deletion genotype individuals (p<0.03), under dominant, co-dominant and monoallelic conditions (p<0.04). Deletion allele corresponds to serum ACE activity in obese patients (p<0.05). The amount of salt intake (<6 g/d) was significantly associated with obesity and particularly high in deletion-deletion and insertion-deletion genotype carriers (p<0.001). STITCH analysis underlined interactions of the ACE protein with sodium molecule, REN, ACE2, KNG1 and AGTR1 in a biological network.Conclusions:Our findings suggest the positive association between ACE deletion genotype, serum ACE activity and sodium intake with risk of obesity development in the Saudi population.

Genetic polymorphism of angiotensin-converting enzyme and hypertrophic cardiomyopathy risk: A systematic review and meta-analysis.

Background:Genetic factors in the pathogenesis of cardiomyopathies have received a lot of attention during the past 2 decades. Some studies have reported that angiotensin-converting enzyme (ACE) gene has been associated with hypertrophic cardiomyopathy (HCM). However, there have been inconsonant results among different studies. To clarify the influence of ACE on HCM, a systemic review and meta-analysis of case–control studies were performed.Methods:The following databases were searched to indentify related studies: PubMed database, the Embase database, the Cochrane Central Register of Controlled Trials database, China National Knowledge Information database, and Chinese Scientific and Technological Journal database. Search terms included “hypertrophic cardiomyopathy,” “angiotensin converting enzyme” or “ACE,” and “polymorphism or mutation.”Results:Fifteen separate studies were suitable for the inclusion criterion. The selected studies contained 2972 participants, including 1047 in HCM group and 1925 controls. Pooled odds ratios (ORs) were calculated to assess the association between ACE insertion/deletion (I/D) polymorphism and HCM. Our case–control data indicated that D allele carrier is a risk allele in all genetic models: allele contrast (D vs I: OR = 1.35, 95% confidence interval [CI]: 1.10–1.65, P = .004), homozygous comparison (DD vs II: OR = 1.69; 95% CI: 1.12–2.54; P = .01), dominant model (DD + ID vs II: OR = 1.52, 95% CI: 1.15–2.02, P = .003), and recessive model (DD vs ID + II: OR = 1.34, 95% CI: 0.99–1.81, P = .03).Conclusion:In summary, the current meta-analysis provided solid evidence suggesting that ACE gene I/D polymorphism was probably a genetic risk factor for HCM.

HYPERTENSION AND GENETIC POLYMORPHISM OF ACE AND ADD1 GENE IN NORTH INDIAN POPULATION

Ponte Academic JournalJul 2017, Volume 73, Issue 7 HYPERTENSION AND GENETIC POLYMORPHISM OF ACE AND ADD1 GENE IN NORTH INDIAN POPULATIONAuthor(s): M. Amin-ul Mannan ,Shikha Dhial, Sahiba Lall, Jasdeep Singh, Atul Kumar UpadhyayJ. Ponte - Jul 2017 - Volume 73 - Issue 7 doi: 10.21506/j.ponte.2017.7.32 Abstract:Primary hypertension or essential hypertension is associated with high blood pressure. However, there is no known secondary prognosis with essential hypertension. Previous studies have shown that high blood pressure is linked to genetic factors and to a sedentary lifestyle. Recently, the interaction between angiotensin-converting enzyme (ACE) and adducing (ADE1) with blood pressure has been suggested. However, its significance and predisposition with biochemical factors were elusive. In this study, we have reported there is a strong association between genetic polymorphism of insertion/deletion (I/D) of ACE and G460T polymorphism of ADD1 gene and hypertension when both the parameters were taken into consideration. The study was conducted on genetically unrelated individuals from Punjab province of North India. We found that Odd ratio (OD) of ACE gene was 1.125 and of ADD1 was 0.409 respectively. However, we did not find any foreseen risk associated with single nucleotide polymorphism of studied genes and hypertension. We surmise that combination of genetic factors along with lifestyle play important role in determining arterial hypertension. Download full text:Check if you have access through your login credentials or your institution Username Password

Association of seven renin angiotensin system gene polymorphisms with restenosis in patients following coronary stenting.

Background and objective:Percutaneous coronary intervention, despite being effective for coronary revascularization, causes in-stent restenosis due to neointimal hyperplasia in a large number of patients. The renin-angiotensin system is involved in neointimal hyperplasia. This study sought to evaluate seven gene polymorphisms of key renin-angiotensin system components, including angiotensinogen, angiotensin-converting enzyme and angiotensin II type 1a receptors, and their associations with in-stent restenosis in patients with coronary artery disease following coronary stenting.Methods and results:Three hundred and fifty-two patients undergoing coronary drug-eluting stent implantation were recruited. Seventy-five patients (21.3%) were diagnosed as restenosis by angiography. Genotyping for angiotensin-converting enzyme insertion/deletion demonstrated a significant association of angiotensin-converting enzyme DD genotype with the occurrence of restenosis. Direct DNA sequencing revealed no association of angiotensinogen (M235T, G217A, G152A, G-6A, and A-20C) or angiotensin II type I receptor A1166C polymorphisms with in-stent restenosis. However, angiotensin II type 1a A1166C polymorphism was significantly associated with increased susceptibility to restenosis in a subgroup of patients aged more than 60 years.Conclusion:Thus, our study suggests that genetic polymorphisms of angiotensin-converting enzyme insertion/deletion are associated with in-stent restenosis in coronary artery disease patients following coronary stenting.

Genetic Polymorphism of Angiotensin-Converting Enzyme and Chronic Obstructive Pulmonary Disease Risk: An Updated Meta-Analysis.

The relationship between polymorphism of the angiotensin I converting enzyme (ACE) gene and chronic obstructive pulmonary disease (COPD) has been examined in many previous studies. However, their results were controversial. Therefore, we performed a meta-analysis to evaluate the relationship between the ACE gene and the risk of COPD. Fourteen case-control studies were included in this meta-analysis. The pooled p value, odds ratio (OR), and 95% confidence interval (95% CI) were used to investigate the strength of the association. The meta-analysis was performed using comprehensive meta-analysis software. Our meta-analysis results revealed that ACE polymorphisms were not related to the risk of COPD (p > 0.05 in each model). In further analyses based on ethnicity, we observed an association between insertion/deletion polymorphism of the ACE gene and risk of COPD in the Asian population (codominant 2, OR = 3.126, 95% CI = 1.919–5.093, p < 0.001; recessive, OR = 3.326, 95% CI = 2.190–5.050, p < 0.001) but not in the Caucasian population (p > 0.05 in each model). In conclusion, the present meta-analysis indicated that the insertion/deletion polymorphism of the ACE gene may be associated with susceptibility to COPD in the Asian population but not in the Caucasian population. However, the results of the present meta-analysis need to be confirmed in a larger sample.

Genetic ACE I/D and ACTN3 R577X polymorphisms and adolescent idiopathic scoliosis.

The etiology of adolescent idiopathic scoliosis remains unknown. Angiotensin-converting enzyme and α-actinin-3 polymorphisms influence the characteristics of muscle fibers. The aim of this study was to examine the association between idiopathic scoliosis and genetic polymorphism of angiotensin-converting enzyme and α-actinin-3. Ninety-seven females with scoliosis, and 137 healthy, age-matched control females were studied. The presence of polymorphisms was determined by PCR. A χ2 test was used to analyze differences, and odds ratios were estimated. The frequencies of ACE genotypes in the scoliotic group were 46.4% DD, 45.4% ID, and 8.2% II, while in the control group they were 40.1% DD, 43.8% ID, and 16.1% II (P = 0.197). The D allele had a frequency of 69.1% in patients with idiopathic scoliosis and 62% in the control group (P = 0.116). The frequencies of ACTN3 genotypes in females with scoliosis were 31.8% RR, 49.4% RX, and 18.8% XX, while in the control group they were 35% RR, 49% RX, and 16% XX (P = 0.810). The frequency of the R allele was 56.4% in the scoliotic group and 59.6% in the control group (P = 0.518). There was no statistically significant association between angiotensin-converting enzyme or α-actinin-3 polymorphisms and the presence of adolescent idiopathic scoliosis in females.

ACE I/D Gene Polymorphism in Children with Family History of Premature Coronary Disease.

Letter to the editor regarding the article by de Albuquerque et al: Angiotensin-converting enzyme genetic polymorphism: its impact on cardiac remodeling. I read with interest the recent review article by de Albuquerque et al1 published in the Arquivos Brasileiros de Cardiologia entitled “Angiotensin-converting enzyme genetic polymorphism: its impact on cardiac remodeling.” They showed that the DD genotype of Angiotensin-converting enzyme (ACE) gene polymorphism was independently associated with worse echocardiographic outcome, while the DI genotype, with the best echocardiographic profile1. Atherosclerosis, the major cause of CAD, manifests clinically in adulthood. However, this disease begins very early in life, often during childhood. Genetic and environmental factors, gene–environment interaction effects also come into play in the development of atherosclerosis. Family history is the most significant independent risk factor for CAD. In our study, we included a total of 140 children, 72 males and 68 females between the ages of 4.9 and 15.7 years. Among these children, 73 had a parental history of premature CAD (parents have been diagnosed with the CAD by coronary angiographic study, ages below 55 for men and 65 for women) and the rest of 67 belonged to our control group (parents have shown normal coronary angiographic study). The participants were screened for the mutations ACE I/D gene polymorphisms. The genotypes of ACE I/D were significantly different between the study and control groups (p = 0.01). The frequency of D/D genotype was significantly higher in the study group than the control group (respectively, 20/73 vs. 3/67, p = 0.01) (Table 1). The frequency of the D allele was slightly higher in study group (0.52) than in control group (0.27) (p = 0.005). Table 1 The frequencies of the ACE I/D gene polymorphisms in study group and control group, and the odds ratios with 95% CI The angiotensin converting enzyme is a key factor in the production of angiotensin II and in the degradation of bradykinin. Chronic exposure to high levels of circulating and tissue ACE predispose to vascular wall thickening and atherosclerosis. The ACE insertion/deletion (I/D) polymorphism results from the absence or presence of an alu repeat located in intron 16 of the ACE gene. The D allele of an insertion/deletion (I/D) polymorphism of the gene encoding ACE is associated with higher plasma ACE concentrations2. Many studies have investigated the association between the DD genotype of ACE gene I/D polymorphic variant and CAD3,4. However, these outcomes have not been supported by the other studies5. In present study, the frequencies of D/D genotype and D allel of ACE gene considerably higher in children with parental history of premature CAD than control group. We showed that the frequencies of the DD genotype and the D allel of ACE I/D gene polymorphism are higher in children with parental history of premature CAD. This results may be associated with an increased risk for development of atherosclerosis. It may be contribute to the detection of the risk of children with a parental history of CAD. Thus, further large population studies must be done to confirm this results. The study protocol was approved by the Local Ethical Committee of Celal Bayar University, and informed written consent was obtained from all participants. This study was funded by Celal Bayar University.

Association of TNF-α −308 G &gt; A and ACE I/D gene polymorphisms in hemodialysis patients with arteriovenous fistula thrombosis

Tumor necrosis factor-α (TNF - α) -308 G > A promoter polymorphism seems to be associated with adverse clinical outcome in hemodialysis patients (HD). Angiotensin-converting enzyme (ACE) gene may be the causative factor contributing to the deterioration of renal functions. The aim of this study was to investigate the relationship between vascular access failure and the genetic polymorphisms of ACE and TNF-α gene. We enrolled and genotyped 47 HD patients with arteriovenous fistula (AVF) thrombosis, 51 HD patients without AVF thrombosis, and 40 healthy controls. The genotypes of these polymorphisms were determined by polymerase chain reaction and restriction fragment length polymorphism. The genotype distribution of TNF-α -308 G > A in patients with thrombosis was significantly different from the patients without thrombosis (p = 0.008). There was no significant difference between the two groups in terms of ACE I/D polymorphism (p = 0.213). Our results propose that TNF-α -308 G > A genotype may be a potential genetic marker on HD patients with AVF thrombosis.

Correlation of Clinical Parameters, Medication Therapy and Morbimortality with Angiotensin Converting Enzyme Genetic Polymorphisms in Patients with Non-Ischemic Heart Failure

Background: Patients with heart failure (HF) often have physical symptoms that result in poor health-related quality of life (HRQOL) and are antecedents of hospitalizations. Inflammation can produce symptoms as part of the pathological response in HF. Depressive symptoms can affect the relationships between inflammation and physical symptoms. Purpose: To examine the relationships between inflammation (soluble tumor necrosis factor receptor 1 [sTNF-R1]) and physical symptoms and the role of depressive symptoms on the relationship in patients with HF, controlling for relevant covariates (i.e., age, body mass index [BMI], social support, comorbidities, and medication). Methods: A total of 145 patients with HF (age 60612 years, 68% male, 51% NYHA class III/IIV) participated. Data on physical symptoms (Symptom Status Questionnaire-Heart Failure) and depressive symptoms (Beck Depression Inventory [BDI]-II) were collected. Data on sTNF-R1 were collected using blood samples and were root transformed to achieve normality. Patients were divided into two subgroups based on the score of the BDI-II (non-depressed: ! 14 vs. depressed: $ 14). Hierarchical multiple regression models were used to analyze the data. Results: sTNF-R1 was significantly related to physical symptoms, controlling for covariates (F 5 9.215, p ! .001). sTNF-R1 was significantly related to physical symptoms only in the non-depressed subgroup, controlling for covariates (F 5 3.738, p 5 .002). Among the covariates, social support and BMI were significantly related to physical symptoms in the total sample and in the two subgroups. Conclusion: sTNF-R1 may be used as an objective indicator of physical symptoms in patients with HF. Depressive symptoms have a role in the relationships between inflammation and physical symptoms in patients with HF.

Influence of Angiotensin Converting Enzyme Polymorphisms on Echocardiograph Parameters in Non-Ischemic Heart Failure in a Brazilian Cohort

The echocardiograph (Echo) impact of Angiotensin Converting Enzyme (ACE) genetic polymorphisms (ACE-GP) in Heart Failure (HF) is not established. Studies have shown conflicting results about genotypes distribution and its value as a predictor on Echo outcomes.

Angiotensin-converting enzyme genetic polymorphism: its impact on cardiac remodeling.

BackgroundThe role of angiotensin-converting enzyme genetic polymorphisms as a predictor of echocardiographic outcomes on heart failure is yet to be established. The local profile should be identified so that the impact of those genotypes on the Brazilian population could be identified. This is the first study on exclusively non-ischemic heart failure over a follow-up longer than 5 years. ObjectiveTo determine the distribution of angiotensin-converting enzyme genetic polymorphism variants and their relation with echocardiographic outcome of patients with non-ischemic heart failure. MethodsSecondary analysis of the medical records of 111 patients and identification of the angiotensin-converting enzyme genetic polymorphism variants, classified as DD (Deletion/Deletion), DI (Deletion/Insertion) or II (Insertion/Insertion). ResultsThe cohort means were as follows: follow-up, 64.9 months; age, 59.5 years; male sex, 60.4%; white skin color, 51.4%; use of beta-blockers, 98.2%; and use of angiotensin-converting-enzyme inhibitors or angiotensin receptor blocker, 89.2%. The angiotensin-converting enzyme genetic polymorphism distribution was as follows: DD, 51.4%; DI, 44.1%; and II, 4.5%. No difference regarding the clinical characteristics or treatment was observed between the groups. The final left ventricular systolic diameter was the only isolated echocardiographic variable that significantly differed between the angiotensin-converting enzyme genetic polymorphisms: 59.2 ± 1.8 for DD versus 52.3 ± 1.9 for DI versus 59.2 ± 5.2 for II (p = 0.029). Considering the evolutionary behavior, all echocardiographic variables (difference between the left ventricular ejection fraction at the last and first consultation; difference between the left ventricular systolic diameter at the last and first consultation; and difference between the left ventricular diastolic diameter at the last and first consultation) differed between the genotypes (p = 0.024; p = 0.002; and p = 0.021, respectively). ConclusionThe distribution of the angiotensin-converting enzyme genetic polymorphisms differed from that of other studies with a very small number of II. The DD genotype was independently associated with worse echocardiographic outcome, while the DI genotype, with the best echocardiographic profile (increased left ventricular ejection fraction and decreased left ventricular diameters).

Angiotensinogen Polymorphisms and Post-Transplantation Diabetes Mellitus in Korean Renal Transplant Subjects

Background: Post-transplant diabetes mellitus (PTDM) is a common and serious metabolic complication. Genetic polymorphisms of angiotensin-converting enzyme (ACE) and angiotensinogen (AGT) genes have been reported to be related to diabetes mellitus and insulin sensitivity; however, the role of these genes in the development of PTDM is not known. For this purpose, we investigated the association of ACE and AGT genetic polymorphisms with PTDM. Methods: A total of 302 subjects without previously diagnosed diabetes who had received kidney transplants were included. One ACE single nucleotide polymorphism (SNP) (rs4291) and two AGT SNPs (rs 699 and rs 4762) were genotyped from genomic DNA with direct sequencing. Results: PTDM developed in 49 (16.2%) of 302 subjects. Subjects in the PTDM were older than those in the non-PTDM. There was a significant difference between the two groups in tacrolimus use (p=0.03). Of the three SNPs, the rs4762 of the AGT gene was significantly associated with the development of PTDM in the dominant models (p = 0.03) after adjusting for age and tacrolimus usage. Conclusions: AGT gene rs4762 polymorphisms may serve as genetic markers for the development of PTDM. The exact molecular mechanisms still need to be clarified.

Effect of angiotensin converting enzyme genetic polymorphism on cardiovascular response to endotracheal intubation in patients with hypertension

Objective To investigate the effect of angiotensin converting enzyme (ACE) genetic polymorphism on the cardiovascular response to endotracheal intubation in patients with hypertension.Methods The patients with primary hypertension,ASA Ⅱ or Ⅲ,aged 54-64 yr,weighing 50-70 kg,scheduled for elective operation under general anesthesia,were enrolled in this study.Polymerase chain reaction-restriction fragment length polymorphism was used to detect the polymorphism of ACE gene.The patients were assigned into 3 groups according to their genotypes:homozygote DD group (group DD),heterozygote ID group (group ID),and homozygote Ⅱ group (group Ⅱ).Systolic blood pressure (SBP),diastolic blood pressure (DBP) and heart rate (HR) were recorded before and after induction of anesthesia,and at 0,1.5 and 5.0 min after intubation (T0-4).The rate-pressure product (RPP) was calculated.The cardiovascular events were recorded.Results In groups DD,ID and Ⅱ,40,39 and 40 cases were included in the analysis respectively.Compared with group ID,there was no significant difference in SBP,DBP,HR and RPP at T0-4 in group DD (P ＞ 0.05).Compared with groups DD and ID,SBP,DBP,HR and RPP were significantly deceased at T2,3,and SBP,HR and RPP were significantly deceased at T4 in group Ⅱ (P ＜ 0.05).The incidences of the myocardial ischemia during intubation and cardiovascular response to intubation were significantly lower in group C than in groups DD and ID (P ＜ 0.05).Conclusion ACE genetic polymorphism exerts an effect on the cardiovascular response to endotracheal intubation in patients with hypertension,and homozygote DD and heterozygote ID have the most influence. Key words: Angiotensin converting enzyme 2; Genotype; Hypertention; Intubation, intratracheal; Intraoperative complications

Study on the correlation between genetic polymorphism of angiotensin-converting enzyme (ACE) in Hainan Li Nationality and hypertension with atherosclerosis

ObjectiveTo study the correlation between genetic polymorphism of angiotensin-converting enzyme (ACE) in Hainan Li Nationality and hypertension with atherosclerosis.MethodsACE I/D gene polymorphisms were detected by PCR in 260 hypertension patients...

The Complex Dance Between Parents and Child: The Sex of All 3 Modifies Phenotype

Susceptibility to coronavirus disease 2019 (COVID-19) and disease severity has recently been associated with inflammatory markers and genetic polymorphisms of ACE (angiotensin-converting enzyme) and ACE2 genes, but the evidence has been inconclusive. This case-control study (99 COVID-19 patients and 96 controls) sought to assess the significance of age, C-reactive protein (CRP), neutrophil-to-lymphocyte ratio (NLR) and SARS-CoV-2 RT-PCR cycle threshold (Ct) in severity of COVID-19. Besides, two variants of ACE and ACE2 genes (rs4646994 and rs2285666, respectively) were analyzed to determine their role in COVID-19 susceptibility and/or disease severity. Results revealed that age, CRP and NLR were significantly elevated in severe cases compared to moderate cases, while RT-PCR Ct value was significantly decreased. Allele and genotypes of both variants were not associated with COVID-19 risk, with the exception of rs2285666 A allele. It showed a significantly higher frequency in female patients than in female controls (probability = 0.041). In conclusion, the study indicated the role of age, CRP, NLR and SARS-CoV-2 RT-PCR Ct in susceptibility to COVID-19 severity. However, analysis of the ACE and ACE2 gene variants (rs4646994 and rs2285666, respectively) showed that the two variants were not associated with the risk of developing COVID-19.

E0592 Study on the correlation between genetic polymorphism of angiotensin-converting enzyme (ACE) in Hainan Li Nationality and hypertension with atherosclerosis

ObjectiveTo study the correlation between genetic polymorphism of angiotensin-converting enzyme (ACE) in Hainan Li Nationality and hypertension with atherosclerosis.MethodsACE I/D gene polymorphisms were detected by PCR in 260 hypertension with...

Role of Genetic Polymorphism of Angiotensin-Converting Enzyme, Plasminogen Activator Inhibitor-1 and Endothelial Nitric Oxide Synthase in the Prognosis of Coronary Artery Disease

BackgroundThis study was to investigate the effects of multiple genetic polymorphisms and conventional risk factors in the prognosis of coronary artery disease (CAD).MethodsOne hundred and fifty five patients with CAD were prospectively recruited, they were subgrouped as single vessel disease (SVD) and multiple vessel disease (MVD). All patients were detected I/D polymorphism of angiotensin-converting enzyme (ACE) gene, 4G/5G polymorphism of plasminogen activator inhibitor-1 (PAI-1) gene, and G894→T mutation of endothelial nitric oxide synthase (eNOS) gene. The patients were followed up for 10-65 months, mean 35 months. End points were major adverse cardiovascular events (MACE), including angina, myocardial infarction, and cardiac sudden death.ResultsDuring the follow-up period, MACE developed in 81 patients, 73 patients with angina, seven with myocardial infarction, and one with cardiac sudden death. CAD patients with MVD were more probable of developing MACE during follow-up. Distribution of PAI-1 gene polymorphism was significantly different between SVD and MVD patients, p < 0.001. The frequency of DD genotype of ACE and 4G/4G genotype of PAI-1 in patients with MACE were significantly higher than those in patients without MACE, p < 0.001 and p = 0.002, respectively. Incidence of diabetes mellitus was significantly higher in patients with MACE than in patients without MACE, P = 0.03. Cox regression analysis showed that diabetes mellitus (HR 2.36, 95% CI 1.33-4.46, p = 0.003), 4G/4G polymorphism of PAI-1 gene (HR 3.45, 95% CI 1.71-6.56, p = 0.009), and D/D polymorphism of ACE gene (HR 2.99, 95% CI 1.84-5.76, p = 0.005), were independent predictors of the MACE.ConclusionsOur results showed that the conventional risk factors and genetic polymorphisms have significant influence on prognosis of CAD patients. CAD patients with diabetes mellitus, DD genotype of ACE, and 4G/4G genotype of PAI-1 suggested poor prognosis.

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.