Angiotensin-converting Enzyme Gene Polymorphism Research Articles

Distribution of angiotensin converting enzyme gene (insertion/deletion) polymorphism in Indian populations

The present study was carried out to understand the pattern of angiotensin-converting enzyme (ACE) gene insertion/deletion (I/D) polymorphism (rs4646994) among five ethnic groups of Punjab (North-West India), and other culturally and linguistically different Indian population groups. A total of 1012 unrelated individuals belonging to Banias, Brahmins, Jat Sikhs, Khatris and Scheduled Castes were genotyped for Alu ACE gene I/D polymorphism. ID genotype was observed to have highest frequency among all the studied population groups except among Scheduled Castes. The frequency of insertion (I) allele was higher in all the studied groups as compared to the frequency of deletion (D) allele, except in Brahmins. Out of the 10 possible pairwise comparisons, four population combinations show remarkable difference. Furthermore, on comparing these five ethnic groups with other Indian populations, discrepancy was observed in the allele frequency distribution, which can be accounted for variations in sample size, study design, geographical location and diverse ethnic background.

Association of Angiotensin Converting Enzyme Gene Insertion/Deletion Polymorphism with Type 2 Diabetic Nephropathy in Gaza Strip-Palestine

Introduction: The insertion/deletion (I/D) polymorphism of 287 bp Alu repeat sequence in intron 16 of Angiotensin Converting Enzyme (ACE) gene resulting in three genotypes I/D, D/D and I/I. ACE gene expression is associated with ACE levels in cells and in the plasma. It indicated that the polymorphism may modulate the expression of the ACE gene. The D/D genotype is believed to confer deleterious effect to many pathogenesis, also, it might be a cause-effect for type 2 diabetic nephropathy (T2DN). In this study, we evaluated the frequency of the different genotypes of ACE gene and investigated if there is an association between ACE gene polymorphism and T2DN by comparing the genotypes results of T2DN patients to healthy control, Type 2 diabetes mellitus (T2DM) and nephropathy patients in Gaza Strip.
 Methodology: The study included 170 subjects, consisting of 43 T2DM patients undergoing dialysis "T2DN" compared to 41 T2DM patients who were not undergoing dialysis, 43 patients undergoing dialysis without T2DM and 43 healthy individuals. Blood samples were collected in EDTA tubes for DNA extraction. Polymerase Chain Reaction (PCR) was used to detect ACE gene polymorphism. All subjects were asked to fill the questionnaire interview.
 Results and Conclusion: The initial results showed that there is no statistically significant association between ACE genotypes and T2DN, also between the T2DM and nephropathy when compared to the healthy control (p> 0.05). The (D/D) genotype was the most frequent in all study groups. Moreover, no association was observed between ACE genotypes and gender, diabetic nephropathy, nephropathy, diabetes, hypertension, obesity and various other diabetes complications.

Association of fat patterning, hypertension and ACE (I/D) gene polymorphism: a study on two Tibeto-Burman linguistic group of Tripura, North East India

Background Hypertension is considered as a major cause of morbidity and mortality throughout the world and become a major global burden on public health in many developing countries Regulation of blood pressure is a complex process Apart from environmental factors multiple genes have been responsible for hypertension The gene environment and fat patterning interaction in the pathogenesis of hypertension has not been extensively studied in the north east Indian ethnic groups Aim In this context to best of our knowledge this is a maiden attempt to discern the association between fat patterning blood pressure and ACE I D gene polymorphism among the two Tibeto Burman speaking ethnic groups Chakmas and Tripuris of North East India Tripura Materials and methods To achieve the purpose total Chakma and Tripuri apparently healthy unrelated adult males from Tripura North East India were incorporated in the present study Anthropometric variables and physiological variables blood pressure have been collected using standard techniques Extracted genomic DNA from mouthwash was PCR amplified and genotyped to understand ACE gene I D polymorphism Results Examination on the association of fat patterning and hypertension revealed significantly p lt higher hypertensive individuals and accumulation of central obesity among the Chakmas compared to the Tripuris ACE I D gene polymorphism demonstrated higher frequency of lsquo I rsquo allele in the present study groups and the findings of the present study is in agreement with the distributions found in Asiatic populations and also in close corroboration with other Tibeto Burman linguistics groups of North East India Conclusion Significantly p lt higher hypertensive individuals were found among the Chakmas in comparison to the Tripuris The present study envisaged central adiposity is a major risk factor for hypertension in Chakmas rather than ACE I D polymorphism

Polycystic ovarian syndrome: rs1799752 polymorphism of ACE gene.

To investigate the contribution of the deletion polymorphism and insertion (rs1799752) of the angiotensin converting enzyme (ACE) gene in the aetiology of Polycystic Ovarian Syndrome (PCOS). 97 women diagnosed with PCOS who received care at the Gynaecology and Obstetrics clinic of the Hospital das Clínicas of UFTM, participated in this study. The control group consisted of 94 women. All participants were submitted to the collection of 10 mL of whole blood and the genomic DNA was obtained by the saline extraction method. The genotyping of the samples was performed by means of the Polymerase Chain Reaction (PCR). The statistics analyses were performed by descriptive analysis, univariate analysis and logistic regression model. The results were presented in odds ratio (OR) and confidence interval of 95% (CI-95%), with a significance level of 5% (p≤0.05). There were no statistical differences between patients and controls for the genotypic (χ2 = 1.52, p = 0.47) and allelic frequencies (χ2 = 0.21, p = 0.76). The distribution of the genotypic frequency is not in HWE for patients (χ2 = 18.80, p <0.05) and for controls (χ2 = 6.85, p <0.05). In relation to the risk factors for the syndrome, the history of familial PCOS is more frequent between women with the syndrome. In the study population, there was no association between I/D polymorphism of the ACE gene and PCOS.

Ace Gene Polymorphism Insertion Deletion Association with Prostate Cancer

The angiotensin-converting enzyme (ACE) gene carries two alleles: insertion (I) and deletion (D) polymorphism inside its intron 16 . The study investigation the association between genetic polymorphisms and prostate patients. Materials and Methods: 75 prostate cancer patients, 75 prostate benign and 81 healthy were included. The ACE I/D genotypes were determined by PCR (polymerase chain reaction) Results showed for ACE gene polymorphism at that DD allele relation with prostate cancer p-value 0.0001** and prostate benign relation with ID allele p-value 0.0097**. This study aimed to detecting genetic early marker in angiotensin I converting enzyme (ACE) gene Iraqi patients with prostate carcinoma.

PL - 030 The effects of ACE gene polymorphisms on ACE content before and after High-Intensity Interval Exercise

Objective Angiotensin Converting Enzyme (ACE) is expressed in human skeletal muscle. The ACE I/D polymorphism (rs4341) has been associated with athletic performance in some studies. Studies suggested that the ACE I/D gene polymorphism is associated with ACE enzyme content in serum, however, the effect of ACE I/D on ACE protein content in human skeletal muscle in unclear. Angiotensin-converting enzyme 2 (ACE2) is a new component of the renin-angiotensin system (RAS), which is counter-regulatory to the ACE enzyme. The polymorphisms in the ACE2 gene (rs1978124 and rs2285666) have been reported to be associated with hypertension, however, their effects on ACE content in the blood and in skeletal muscle have yet to be explored. Utilising the Gene SMART cohort (n=81), we investigated whether the ACE I/D gene polymorphism (rs4341) and two ACE2 gene polymorphisms (rs1978124 and rs2285666) were associated with ACE enzyme content in the blood and skeletal muscle at baseline, and following a single session of High-Intensity Interval Exercise (HIIE).&#x0D; Methods ACE and ACE2 gene polymorphisms were determined using the TaqMan SNP assay (Applied Biosystems, Foster City, California, United States) by Mastercycler® ep realplex2 (Eppendorf, Hamburg, Germany), and QuantStudio™ 7 Flex Real-Time PCR System (Applied Biosystems, Foster City, California, United States). For quantitation of ACE content in the plasma, Abcam Human ELISA Kit (ab119577 –ACE (CD143)) was used (Abcam, Cambridge, United Kingdom). Western blots were used to measure ACE content in skeletal muscle. We used robust linear models adjusted for age to test the effect of the ACE I/D polymorphism on outcomes at baseline, using the MASS package in the R statistical software. p-values were adjusted for multiple comparisons using the Benjamini and Hochberg method, and all reported p-values are adjusted p-values. An adjusted p value &lt; 0.005 was considered significant.&#x0D; Results We found that the ACE I/D gene polymorphism was associated with ACE content in the blood (p&lt;0.005) at baseline, but not the ACE protein content in skeletal muscle at baseline. The ACE2 polymorphisms (rs1978124 and rs2285666) were not associated with ACE enzyme content in the blood or in skeletal muscle at baseline. A single session of HIIE tended (0.005 &lt; p &lt; 0.05) to increase blood ACE content immediately post exercise, while skeletal muscle ACE protein content was lower 3 hours post a single session of HIIE (p&lt;0.005). However, those changes were not related to ACE I/D or ACE2 polymorphisms.&#x0D; Conclusions The ACE I/D gene polymorphism influences ACE enzyme content in the blood but not the ACE protein content of human skeletal muscle. ACE I/D gene polymorphism does not influence the changes of ACE content after a single session of HIIE. ACE2 gene polymorphisms seem to have no effect on ACE content in the blood and skeletal muscle, before or after a session of HIIE.

A0939 The relationship between angiotensin converting enzyme gene polymorphism and hypertension

Objectives: The human angiotensin converting enzyme (ACE) gene is often found in the stool Chromosome 17q23, according to a 287 bp sequence located in its intron 16 column exists or not, divided into insert (¢ñ) and deletion (D) alleles Gene. There are three genotypes included II, ID, DD. The ACE gene polymorphisms have been suggested to be linked to increase risk of hypertension. However, the results are still controversial. Therefore, the purpose of this meta-analysis is to further confirm the relationship between ACE gene and hypertension with different genders. Methods: We searched PubMed, Cochrane Library, Embase, Web of Science and so on from their commencement to Oct. 2017 with free text word and MeSH by using these search terms as follows: “hypertension”, “blood pressure”, “ angiotensin converting enzyme “, “polymorphism”. Thirty studies involved 8317 patients were enrolled. Results: We got the conclusions. Compared with the Chinese normotensive patients, hypertensive patients were with higher expression of DD gene[odds ratio (OR) = 1.56; 95% Confidence interval (CI): 1.23, 1.98, P = 0.0002], normotensive patients with higher expression of II gene (OR = 0.79; 95%CI: 0.70, 0.90, P = 0.0002).Considering for the differences of gender in foreigners, there is no significant difference among the three genotypes. In Chinese population, the DD gene in female hypetensive patients was higher expression than normotensive patients (P = 0.04). However, the II gene in male hypertensive patients was higher expression than normotensive patients (P = 0.003). Conclusion: In the general population, the DD gene in the ACE gene polymorphism is more susceptible to hypertension. Additionally, this trend also exists in the chinese female hypertensive patients, but the trend disappeared in chinese males hypertensive patients.

A0944 The relationship between angiotensin converting enzyme gene polymorphism and hypertension

Objectives: The human angiotensin converting enzyme (ACE) gene is often found in the stool Chromosome 17q23, according to a 287 bp sequence located in its intron 16 column exists or not, divided into insert (¢ñ) and deletion (D) alleles Gene. There are three genotypes included II, ID, DD. The ACE gene polymorphisms have been suggested to be linked to increase risk of hypertension. However, the results are still controversial. Therefore, the purpose of this meta-analysis is to further confirm the relationship between ACE gene and hypertension with different genders. Methods: We searched PubMed, Cochrane Library, Embase, Web of Science and so on from their commencement to Oct. 2017 with free text word and MeSH by using these search terms as follows: “hypertension”, “blood pressure”, “ angiotensin converting enzyme “, “polymorphism”. Thirty studies involved 8317 patients were enrolled. Results: We got the conclusions. Compared with the Chinese normotensive patients, hypertensive patients were with higher expression of DD gene[odds ratio (OR) = 1.56; 95% Confidence interval (CI): 1.23, 1.98, P = 0.0002], normotensive patients with higher expression of II gene (OR = 0.79; 95%CI: 0.70, 0.90, P = 0.0002).Considering for the differences of gender in foreigners, there is no significant difference among the three genotypes. In Chinese population, the DD gene in female hypetensive patients was higher expression than normotensive patients (P = 0.04). However, the II gene in male hypertensive patients was higher expression than normotensive patients (P = 0.003). Conclusion: In the general population, the DD gene in the ACE gene polymorphism is more susceptible to hypertension. Additionally, this trend also exists in the chinese female hypertensive patients, but the trend disappeared in chinese males hypertensive patients.

Clinical and Genetic Features of the Development of Complications of Acute Myocardial Infarction

The purpose of this study was to investigate the angiotensin-converting enzyme (ACE) gene associations with the clinical picture of the most frequent complications of acute myocardial infarction (MI). The study included 190 patients who underwent one or more MI included in the WHO Register of Acute Myocardial Infarction. All the patients underwent genetic research for the identification of allelic variants of the ACE gene (polymorphism I/D). It was found that the DD genotype of the ACE gene is associated with a more frequent occurrence of acute left ventricular aneurysm (ALVA) (OR = 2.46, 95% CI 1.08–5.63, p = 0.037, χ2 = 4.73). In the group of patients with acute left ventricular failure (ALVF), the picture looked different: the genotype II of the ACE gene was more frequent (OR = 2.86, 95% CI 1.35–6.08, p = 0.007, χ2 = 7.81). Patients in the group without ALVF were carriers of the allele D more often (77.1%) (p = 0.007, χ2 = 7.81). Discovered genetic associations favor the consideration of the ACE gene as a genetic predictor of the development of ALVA in the acute period of MI. Further study of this gene in combination with other genetic markers of MI, as well as analysis of distribution of the genotypes of the ACE gene among deceased patients who underwent MI, will allow us to understand the genetic mechanisms of the development of other complications of MI, in particular, ALVF. All this will ensure the development of new highly effective personalized approaches to the prevention and treatment of complications of acute MI and the improvement of immediate and remote prognosis of patients.

Association of angiotensin-converting enzyme 2 gene polymorphism and enzymatic activity with essential hypertension in different gender: A case-control study.

Angiotensin-converting enzyme 2 (ACE2) plays an important role in the development of essential hypertension (EH). The aim of this study was to investigate the relationship of ACE2 gene polymorphisms and enzymatic activity with EH in the northeastern Chinese Han population. 34 single-nucleotide polymorphism (SNP) loci of ACE2 were detected in 1024 EH patients and 956 normotensive (NT) controls by Sequenom Mass-ARRAY RS1000. Five SNPs (rs1514283, rs4646155, rs4646176, rs2285666, and rs879922) in ACE2 gene were determined to significantly associate with EH in female participants, while no SNP locus was linked to male group. Specifically, it was the first time to report that rs4646155 was significantly associated with EH in females. Furthermore, the correlation between ACE2 activity and clinical parameters were performed by Pearson correlation analysis in EH patients. We found that the ACE2 activity level was negatively correlated with body mass index (BMI), DBP, and pulse pressure, and significantly positively with ACE2 concentration, blood glucose and estrogen level in female EH patients. These results demonstrated that the genetic variants of ACE2 played vital roles in the development of EH. And the serum ACE2 activity can predict the development of cardiac dysfunction in EH patients.

Relationship between Angiotensin Converting Enzyme Gene Polymorphism and Carotid Atherosclerotic Plaque: A Study Based on Vessel Wall Magnetic Resonance Imaging

Objective To investigate the relationship between angiotensin converting enzyme(ACE) gene polymorphism and carotid plaque composition,vessel wall morphology,and clinical symptoms based on vessel wall magnetic resonance imaging. Methods Totally 75 hypertensive patients(75 internal carotid artery plaques) with maximum plaque thickness≥1.5 mm,according to the ACE insertion(I) or deletion(D) gene polymorphism,were divided into ACE 2 genotype group(n=37) and ACE ID/DD genotype group(n=38). The influences of plaque composition,vessel wall morphology,clinical symptoms,and use of ACE inhibitor or angiotensin receptor blocker(ACEI/ARB) on vessel wall morphology were analyzed. Results Compared with ACE 2 genotype group,the ACE ID/DD genotype group had significantly higher incidence of ischemic stroke(Χ2=3.921,P=0.048). The plaque composition and vessel wall morphology showed no significant difference between these two groups. Inside ACE ID/DD genotype group,the carotid remodeling index was significantly lower in users of ACEI/ARB than non-users of ACEI/ARB(1.85±0.60 vs. 2.48±0.40;t=3.854,P=0.001).Conclusion In primary hypertension,ACE ID/DD genotype may be associated with carotid atherosclerotic plaque.

Association of eNOS and ACE gene polymorphisms as a genetic risk factor in gestational diabetes in Iranian women.

Gestational diabetes mellitus (GDM) is the most popular metabolic disease during pregnancy. The aim of the present study was to investigate any possible association between eNOS Glu298Asp and ACE I/D gene polymorphisms and the risk of GDM in a group of Iranian pregnant women. In this case-control study 204 pregnant women were recruited (94 cases and 110 controls). Genomic DNA was isolated from whole blood and genotyping was performed by the Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCR- RFLP) and only PCR for eNOS and ACE polymorphisms respectively. Frequencies of GT and TT genotype of eNOS polymorphism among women with and without GDM were 67.90% vs. 74.47 and 7.41% vs. 8.51% respectively (P = 0.4). Corresponding figures for DD genotype of ACE polymorphism among GDM patients was more than that in healthy women (51.65% vs. 63.81% respectively). Conversely, ACE heterozygote genotype was more common in diabetic women (35.16% vs. 26.67% respectively). Although these differences were not statistically significant (P = 0.2). Our study showed that there is no association between the presence of eNOS and ACE gene polymorphisms and developing gestational diabetes mellitus among pregnant women in our population. Further longitudinal and multicenter studies should be carried out to assess the exact metabolic effects of these polymorphisms.

ACE gene polymorphism is associated with COPD and COPD with pulmonary hypertension: a meta-analysis.

PurposeAngiotensin-converting enzyme (ACE) gene I/D polymorphism has been studied in relation to the susceptibility to COPD and COPD with pulmonary hypertension (PH) with inconclusive results. We performed the first comprehensive meta-analysis to evaluate accurately the association between the ACE gene polymorphism and the risk of COPD.MethodsData were analyzed using odds ratios (ORs) and the corresponding 95% CIs to measure the strength of the models. Subgroup analyses were conducted by ethnicity and complication which referred to PH.ResultsIn total, 15 studies (2,635 participants) were included in our study, of which four studies (288 participants) were for PH subgroup. The overall analysis results indicated that the ACE gene polymorphism was not associated with COPD susceptibility in all gene models. However, the ethnic subgroup analysis results indicated that ACE gene polymorphism was associated with Asians’ susceptibility to COPD (DD+DI vs II, OR=1.47, P=0.019, 95% CI: 1.07–2.02). Further, the overall results of the present study detected no statistical significance between ACE gene polymorphism and the risk of COPD with PH, but the homozygote variant (DD) increased the risk of PH in Asian COPD patients (DD vs ID+II, OR=2.05, P=0.05, 95% CI: 1.00–4.19).ConclusionThe current study suggests that ACE polymorphism, particularly the homozygote variant (DD), might contribute to the risk of COPD and COPD with PH among Asians. Further studies with larger sample size and more ethnicities are expected to be conducted in the future to validate the results.

Biomarkers and Gene Polymorphisms in Members of Long- and Short-lived Families: A Longevity Study.

Background:The influence of biomarkers in human lifespan has been investigated but with no clear results yet.Materials and methods:Lipids, Uric Acid (UA), Adiponectin (ADIPOQ), Insulin-like Growth Factor (IGF-1), cholesteryl ester transfer protein (CETP) and angiotensin-converting enzyme (ACE) proteins, as well as CETP, ADIPOQ, insulin-like growth factor binding protein-3 (IGFBP3) and ACE-gene polymorphisms were evaluated in 149 Greek individuals. The Long-Lived Families (LON) (n=84) comprised of 3 generations: long-lived aged ≥90 years (P), offspring (FL1) and their grandchildren (FL2), while the Short-Lived Families (EAD) (n=65) where both parents died <75 years, comprised of 2 generations: middle-aged (FD1) and children (FD2).Results:Serum CETP and IGF-1 levels were lower, whereas AdipoQ concentrations were higher in P compared with FL1 and FL2 members (CETP: p = 0.03 for both comparisons; IGF-1 p < 0.001 for both comparisons and ADIPOQ: p = 0.001 and p = 0.004, respectively). Furthermore, serum triglycerides, UA and glucose concentrations were higher in FD1 compared with FD2 subjects (p=0.001, 0.02 and ≤0.001, respectively). In FD2 and FL2, CETP levels were lower in individuals with B2B2 compared with B1B1 genotype (p=0.007). Additionally, ACE concentrations were higher in individuals with DD compared with II genotype in both Families (p=0.001). After adjustment for age and gender, CETP levels were lower in P and FL2 individuals with B2B2 compared with the B1B1 genotype (p=0.004 and 0.007, respectively).Conclusion:Increase serum TGs, UA and GL concentrations were higher in the middle-aged individuals compared with their children in families independently of their lifespan. The serum adiponectin concentration was the highest in the oldest old individuals implying beneficial influence on lifespan. Independently of family’s lifespan history, the youngest individuals with CETPB2B2 genotype, compared with individuals with CETPB1B1 genotypes, had lower serum CETP concentrations. The knowledge of the unfavourable gene(s)influencing human lifespan may be helpful in encouraging individuals to follow healthier lifestyle habits and better control their high-risk biomarkers.

Angiotensin-Converting Enzyme (ACE) D Allele as a Risk Factor for Increase Serum Interleukin-6 and Interleukin-8 in Psoriasis Patients.

BACKGROUND:Psoriasis is a chronic, recurrent inflammatory skin disease. It is characterised by autoimmune, environmental factors and complex genetic disorder.AIM:To explore the role of IL-6, IL-8, and ACE I/D polymorphism in the pathogenesis of Psoriasis and investigation of the relationship between ACE polymorphism and occurrence of psoriasis.PATIENTS AND METHODS:In this study, we took 73 psoriasis patients and 47 healthy patients as a control. These two groups subjected to analysis for ACE gene I/D polymorphism by PCR and biochemical methods.RESULTS:The serum levels of ACE, IL-8 and IL-6 were statistically significantly higher in psoriasis patients compared to healthy subjects (P < 0.001). ID and DD polymorphism were more common in psoriasis patients than healthy subjects. Also, D allele was significantly over-represented in patients compared to controls (52.7% Vs 35.1%).CONCLUSION:ACE gene polymorphism might grant susceptibility to develop psoriasis.

Insertion / Deletion Polymorphism of Angiotensin Converting Enzyme Gene Does Not Contribute to Chronic Kidney Disease in Palestine

Background: Chronic Kidney Disease (CKD) is progressive kidney damage in which the glomerular filtration rate (GFR) decreases by 15% of that performed by normal kidneys, with the result that the kidneys are no longer to function effectively and this condition is treated with either kidney transplantation or dialysis. Hemodialysis (HD) is a process in which the blood passes through a machine (dialyzer) to remove waste. Angiotensin Converting Enzyme (ACE) is one of the major components of the renin-angiotensin aldosterone system (RAAS) that is responsible for blood pressure regulation. Insertion/Deletion I/D polymorphism of a 287 bp Alu repeat sequence in introns 16 of the ACE gene results in three genotypes I/D, D/D and I/I. The aims of this study were to evaluate ACE genotypes and allele frequency among HD patients and control subjects and to examine the association between ACE genotypes with HD risk.&#x0D; Methods: A retrospective case-control study included 186 subjects, 86 HD patients and 100 healthy individuals as a control. EDTA whole blood samples were collected from all participants for DNA extraction, and the ACE gene polymorphism was analyzed by using the Polymerase Chain Reaction (PCR) technique. Additionally, all individuals were requested to complete the questionnaire.&#x0D; Results: The initial results demonstrated that the D/D genotype was the most common genotype in all subjects and the association between ACE genotypes with HD occurrence was not statistically significant in the Gaza Strip-Palestine. Furthermore, no statistically significant association was detected between the polymorphism and the study groups (p-value = 0.511).&#x0D;

Association of renin-angiotensin system genes polymorphisms and risk of premature ST elevation myocardial infarction in young Mexican population.

: The renin-angiotensin system plays an important role in the regulation of blood pressure and the development of coronary artery disease. The aim was to examine the association of the insertion deletion in the angiotensin-converting enzyme gene, M235T and T174M polymorphisms in the angiotensinogen gene with ST elevation acute myocardial infarction (STEAMI) in young Mexican population. We analyzed 242 unrelated patients with STEAMI 45 or less years of age, admitted to a cardiovascular intense care unit, and 242 individuals without STEAMI matched by age and sex, recruited from January 2006 and June 2013. The polymorphisms insertion deletion, M235T and T174M were determined in all participants by a polymerase chain-reaction-restriction fragment length polymorphism assay. There was a significant difference in the insertion deletion genotype distribution between two groups (P = 0.03) and a higher percentage of the T allele M235T polymorphism in the group of STEAMI patients (P = 0.02). The T174M polymorphism was not associated (P = 0.08). The insertion deletion and M235T polymorphisms, smoking, hypertension, familial history of cardiovascular disease and dyslipidemia were independent risk factors for STEAMI. Our results identified that the D allele from the insertion deletion and M235T but not T174M polymorphisms represent an independent risk factor for STEAMI in young Mexican population.

Association of angiotensin-converting enzyme gene polymorphism with pulse pressure and its interaction with obesity status in Heilongjiang province

ABSTRACTAngiotensin I converting enzyme (ACE) gene is one of the most-studied candidate genes related to essential hypertension (EH). Pulse pressure (PP) may reflect vascular stiffness, especially in patients with EH, and has been used to predict EH. Previous evidence has indicated that obesity is a traditional risk factor of hypertension. The aim of the present study was to investigate the interaction between the obesity status and ACE gene polymorphisms on the development of high level of PP. A total of 1980 adults (1024 hypertensive and 956 normotensive) were included in this study and genotyped for ACE gene polymorphisms. The results showed that rs4343 and rs4351 in ACE gene were risk factors of high level of pulse pressure (p < 0.05). We also detected positive interactions between the two SNPs and obesity status in the pathway of high level PP.

ACE insertion/deletion polymorphism is positively associated with resistant hypertension in Morocco

ObjectiveThe aim of the present study was to investigate the association of I/D polymorphisms of ACE gene is associated with resistant hypertension and essential controlled hypertension. ResultsOur results show that the homozygous mutant genotype DD was more represented among resistant than controlled (58.1% vs 41.9% respectively), however the homozygote wild was more represented among controlled than resistant (70.6% vs 29.4% respectively). But more heterozygous ID among controlled than resistant patients (63.6% vs 36.4% respectively). The difference was statistically significant (p = 0.04). Analysis of clinical parameters indicated that physical activity contributes to resistant hypertension (P < 0.05).Based on our findings, the homozygous mutant for DD of ACE gene is associated with resistant hypertension in our population. Further studies with larger sample sizes are needed to confirm the results of this study.

Pharmacogenetics of Angiotensin-Converting Enzyme Inhibitors in Patients with Alzheimer's Disease Dementia.

While the angiotensin-converting enzyme degrades amyloid-β, angiotensinconverting enzyme inhibitors (ACEis) may slow cognitive decline by way of cholinergic effects, by increasing brain substance P and boosting the activity of neprilysin, and by modulating glucose homeostasis and augmenting the secretion of adipokines to enhance insulin sensitivity in patients with Alzheimer's disease dementia (AD). We aimed to investigate whether ACE gene polymorphisms rs1800764 and rs4291 are associated with cognitive and functional change in patients with AD, while also taking APOE haplotypes and anti-hypertensive treatment with ACEis into account for stratification. Consecutive late-onset AD patients were screened with cognitive tests, while their caregivers were queried for functional and caregiver burden scores. Prospective pharmacogenetic correlations were estimated for one year, considering APOE and ACE genotypes and haplotypes, and treatment with ACEis. For 193 patients, minor allele frequencies were 0.497 for rs1800764 - C (44.6% heterozygotes) and 0.345 for rs4291 - T (38.9% heterozygotes), both in Hardy-Weinberg equilibrium. Almost 94% of all patients used cholinesterase inhibitors, while 155 (80.3%) had arterial hypertension, and 124 used ACEis. No functional impacts were found regarding any genotypes or pharmacological treatment. Either for carriers of ACE haplotypes that included rs1800764 - T and rs4291 - A, or for APOE4- carriers of rs1800764 - T or rs4291 - T, ACEis slowed cognitive decline independently of blood pressure variations. APOE4+ carriers were not responsive to treatment with ACEis. ACEis may slow cognitive decline for patients with AD, more remarkably for APOE4- carriers of specific ACE genotypes.