Genotype Of Angiotensin-converting Enzyme Gene Research Articles

Association between angiotensin-converting enzyme gene insertion/deletion polymorphism and cognition impairment in patients with schizophrenia.

Several lines of evidence indicate that an insertion/deletion (I/D) polymorphism in the angiotensin-converting enzyme gene (ACE) gene may be involved in the pathogenesis of schizophrenia and cognitive impairment. However, the relationship between ACE I/D polymorphism and cognitive impairment in patients with schizophrenia remains unclear. The aim of this study was to examine whether ACE gene I/D polymorphism contributed to cognitive impairment in Chinese patients with schizophrenia, and whether the association between clinical symptoms and cognitive impairment depended on different ACE genotypes. The ACE I/D polymorphism was genotyped in 928 schizophrenia patients and 325 healthy controls using a case-control design. The severity of psychopathological symptoms was assessed using the Positive and Negative Syndrome Scale (PANSS). Cognitive functioning was assessed by the Repeatable Battery for the Assessment of Neuropsychological Status (RBANS). There were significant differences in genotype and allele frequencies of the ACE I/D polymorphism between patients and healthy controls (both P < 0.01). After controlling for demographic characteristics, patients who are homozygous carriers of D and I performed worse on the RBANS attention index than heterozygous carriers (P = 0.009). In addition, attention index score was negatively correlated with PANSS negative symptom score in patients of all genotypes (all P < 0.05), and positively correlated with positive symptom score only in the I/I genotype (P = 0.005). These findings suggest that ACE I/D gene variants play a role in susceptibility to schizophrenia, specific cognitive impairment and the association between clinical symptoms and cognitive impairment in schizophrenia patients.

Association of angiotensin-converting enzyme (ACE) I/D variation with biochemical parameters and oxidative stress markers in systemic lupus erythematosus patients in west of Iran.

We aimed to study insertion/deletion (I/D) variation (rs4646994) of ACE gene in a group of SLE patients in west of Iran and its possible relationship with oxidative stress. Genotypes and allele frequencies related to ACE (I/D) variation were determined in 108 SLE patients and 110 gender and age-matched healthy controls using PCR. Neopterin, malondialdehyde (MDA), and serum lipid concentrations were determined by HPLC and enzyme assay respectively. The overall distribution of ACE I/D genotypes in SLE patients was different from that of the control group (P = 0.005). DD genotype compared to ID genotype increased the risk of SLE (OR = 2.57, 95% CI 1.4-4.8, P = 0.003). ID genotype compared to the II genotype decreased the risk of disease (OR = 0.45, 95% CI 0.2-0.99, p = 0.042). SLE patients with DD, ID, and II genotypes had lower paraoxonase (PON) activity and higher serum levels of MDA and neopterin versus control patients. We also detected a significant protective effect against SLE in presence of ACE I alleles and lack of angiotensin II receptor, type 1 (AGTR1) A1166C (NCBI reference SNP id: rs5186), C alleles in this study (OR = 0.31, 95% CI 0.14-0.68, P = 0.002). Carriers of the DD genotype of ACE gene with higher serum concentrations of neopterin and MDA, and lower PON activity had a high risk to develop SLE, while ID genotype decreased the risk of disease development by 2.22 times compared to II genotype.

HYPERTENSION-RELATED IMPAIRMENT OF MESENTERIC ENDOTHELIAL FUNCTION CONTRIBUTES INTO GUT-LIVER AXIS VIA INTESTINAL DYSBIOSIS AND HEPATIC STEATOSIS, AND ASSOCIATES WITH GENETIC DYSRE

Objective: Metabolic violations, obesity and other related comorbidities are obvious in arterial hypertension. It is known that Hepatic Steatosis (HS) and Arterial hypertension (AH) has to some extend common pathogenesis realized through metabolic and immune mechanisms involving vascular and digestive system injury, and forming Gut-Liver axis, which remain mostly untouched in recent studies. We aimed on evaluating the endothelial function and mesenteric vessels remodeling depending on I/D polymorphism of angiotensin-converting enzyme (ACE) gene and A1166C polymorphism of angiotensin II type 1 receptor (AGTR1) gene in hypertensive patients with HS. Design and method: Study included 104 AH patients with HS (50 females, 54 males, age 53.2±8.7). Intimae-media thickness (IMT) of abdominal aorta (AO) and other flow mediated parameters of mesenteric vessels state evaluated by sonography. NO (nitrite/nitrate) plasma concentration, vascular adhesive molecule (sVCAM-1) level were defined by IEA. ACE (I/D) and AGTR1 (A1166C) genes polymorphisms assessed with PCR. Results: High risk of endothelial dysfunction (ED) is: D-allele of ACE gene (p&lt;.001); C-allele of AGTR1 gene (p = .02). In DD-genotype were higher flow-mediated parameters of mesenteric vessels. IMT of AO was thicker in CC-genotype of AGTR1 gene (p = .039-.01) and independent on I/D genotypes of ACE gene. sVCAM-1 level was higher (p&lt;.01) in D-allele of ACE gene, than in II-genotype and not depending on A1166C polymorphism of AGTR1 gene. NO plasma level doesn’t depend on ACE (I/D) and AGTR1 (A1166C) genes polymorphisms. Vascular remodeling in HS patients (AO IMT enlargement for more than 0.9 mm) is associated with dysbiosis III-IV grades’ and sVCAM-1 plasma level growth by 1,3-1,6 times (p&lt;.05-.001). AO IMT correlates with dysbiosis severity, presence of HS and sVCAM-1 level and is independent from AH severity. Conclusions: Risk contingents for endothelial dysfunction and mesenteric vessels remodeling in HS patients are: by sVCAM-1 plasma level and diameter of mesenteric vessels increasing – DD-genotype carriers of ACE gene; by IMT of abdominal aorta enlargement – CC-genotype carriers of AGTR1 gene (p&lt;0.02-0.001).

Effect of angiotensin converting enzyme gene polymorphism on patients with in-stent restenosis after percutaneous coronary intervention

&#x0D; &#x0D; &#x0D; &#x0D; Purpose: To evaluate the association between common single nucleotide polymorphisms (SNPs) in angiotensin converting enzyme (ACE) gene and the risk of in-stent restenosis (ISR) and/or the response to angiotensin converting enzyme inhibitor ACEI in individuals with stable coronary artery disease (CAD) after stent implantation.&#x0D; Methods: The total population of this study consisted of 200 Egyptian individuals divided into 2 groups - in-stent restenosis (ISR) and non ISR group). Genomic DNA was withdrawn from EDTA whole blood applying a spin column approach and ACE gene insertion/deletion (I/D) polymorphisms were determined by polymerase chain reaction (PCR).&#x0D; Results: Carriers of allele D of ACE gene were significantly more liable to ISR occurrence. However, carriers of allele I were significantly more liable to ISR occurrence after administration of ACEI. There is a negative interaction between DD genotype of ACE gene and ACEI administration on ISR after percutaneous coronary intervention (PCI). However, there is a positive interaction between II and ID genotype of ACE gene and ACEI administration on ISR after PCI with bare metal stents (BMS).&#x0D; Conclusion: It is beneficial to implement ACEI in therapeutic regimen in individuals with ID or II genotypes of ACE gene, especially with BMS implementation.&#x0D; &#x0D; &#x0D; &#x0D;

Distribution of DD Genotype of Angiotensin-Converting Enzyme Gene and Its Correlation with Diabetic Retinopathy

Background: One of the major microvascular complications of diabetes mellitus (DM) is diabetic retinopathy (DR). Studies have shown that angiotensin-converting enzyme (ACE) gene polymorphisms are correlated with DR progression. Accordingly, the elucidation of the association between ACE gene polymorphism and the risk of DR development seems to be highly crucial. Methods: In this study, 195 individuals with type 2 diabetes mellitus (T2DM) were classified as the case group with retinopathy (99 people) and control group without retinopathy (96 people). Screening for DR was performed by ophthalmologists using clinical examination and fluorescein angiography. Different ACE genotypes (II, ID, and DD) were identified by the collection of blood samples, extraction of DNA, and PCR amplification using specific primers. Results: The frequency distribution of genotypes was significantly different between the case and control groups (P = 0.009). Interestingly, possessing a DD genotype made diabetic patients approximately 2.5 folds (95% CI = 1.271 - 4.840, P = 0.007) and 3.25 folds (95% CI = 1.312 - 8.051, P = 0.01) more susceptible to DR when compared to having DI and II genotypes, respectively. Moreover, having a D allele made diabetic individuals nearly 1.75 folds (95% CI = 1.167 - 2.623, P = 0.007) more susceptible to DR than possessing an I allele. Conclusions: Our results potentiate the hypothesis that the DD genotype and D allele of the ACE gene might play a role in the pathogenesis of DR.

Angiotensin Converting Enzyme Gene Polymorphism in Dyslipidemia and Hypertension

ABSTRACT Background: Hypertension and dyslipidemia have a multifactorial background based on genetic and environmental interactive factors. Increasing blood pressure (BP) and hypertension incidence have also been found to be linked with elevated blood lipids rates. Insertion/deletion (I/D) polymorphisms of the angiotensin converting enzyme (ACE) are said to be linked to pathogenesis of both hypertension and dyslipidemia. Objectives: to investigate the presence of the three genotypes of ACE gene (I/D) polymorphisms with hypertension and dyslipidemia. Subjects and methods: Participants included 30 Egyptian patients with hypertension and /or dyslipidaemia (Group I) and 20 apparently healthy controls (Group II). For all participants, DNA was isolated and amplified by polymerase chain reaction (PCR); the product was recognized by gel electrophoresis according to their size. Results: diferent ACE genotypes frequencies were detected according to the presence or absence of 287 bp fragment in intron 16; 30% for Deletion/Deletion (DD), 56.7% for Insertion/Deletion (ID) and 13.3% for Insertion/Insertion (II) in patients group, denoting that (I) allele has a significant association with hypertension and dyslipidemia (p < 0.05). Conclusions: There is increased frequency of ACE I/D and I/I, therefore, the I allele was common among Egyptian patients affected with hypertension and /or dyslipidaemia.

GENES and In-Stent Restenosis: Review

The initiation of coronary stents is a vast landmark in the practice of interventional cardiology. The vascular injury sustained during the percutaneous coronary intervention (PCI) leads to a complicated inflammatory and repairing process. Therefore, stent restenosis arises. Diabetes mellitus is the highest-risk clinical predictor of ISR. Genetics has an important role in the development of ISR. There is a suggested association between the appearance of stent restenosis and certain genetic polymorphisms. Examples of these single nucleotide polymorphisms are endothelial nitric oxide synthase gene (eNOS), the angiotensin converting enzyme gene (ACE), the angiotensin II type 1 receptor gene (AT1R), TGF-β, and VEGF. CYP2C19 variants can help change the medical strategy to a more individualized therapeutic regimen either by altering the therapeutic dose depending on the genotype or using an alternative drug that does not worsen the patient’s case. However, eNOS polymorphism produces gene expression alteration leading to ISR following stent placement. In addition, the deletion-allele of the ACE genotype increases the risk of ISR; however, the I allele decreases the risk. Moreover, the D/I polymorphism is not an independent factor of ISR in patients administering ACE inhibitors or angiotensin receptor antagonists. Furthermore, studies on large sample sizes are required to decrease the harmful adverse effects of stent restenosis by detecting these allele gene polymorphisms.

Deletion Polymorphism of Angiotensin Converting Enzyme Gene is Associated with Left Ventricular Hypertrophy in Uighur Hypertension-Obstructive Sleep Apnea Hypopnea Syndrome (OSAHS) Patients.

BackgroundThis study aimed to explore the association of angiotensin converting enzyme (ACE) gene insertion/deletion polymorphisms with left ventricular hypertrophy (LVH) in Han and Uighur hypertension-OSAHS (obstructive sleep apnea hypopnea syndrome) patients in China.Material/MethodsA total of 162 Han and 72 Uygur patients with hypertension-OSAHS were independently subdivided into an LVH group and a non-LVH (NLVH) group based on the left ventricular mass index. The insertion/deletion polymorphisms of ACE gene were determined by polymerase chain reaction. The association of ACE gene insertion/deletion polymorphisms with LVH was assessed by chi-squared test. Logistic regression analysis was performed to obtain the odds ratios and 95% confidence intervals for the risk of LVH after adjusting for confounding factors.ResultsIn Uighur patients, the distributions of D allele and DD genotype showed significant differences between the LVH group and the NLVH group. The difference of DD genotype remained significant after multivariate adjustment. In contrast, no significant differences were observed in the distributions of D allele and DD genotype between the LVH group and the NLVH group in Han patients. Moreover, moderate-severe OSAHS was an independent risk factor for LVH.ConclusionsD allele and DD genotype of ACE gene are possible genetic markers for the risk of LVH in Uighur but not Han hypertension-OSAHS patients.

Association of ACE gene polymorphism with cardiovascular determinants of trained and untrained Iranian men

BackgroundThe insertion (I) rather than deletion (D) of human angiotensin converting enzyme gene (ACE) is associated with lower circulating ACE activity and with endurance performance among Caucasians. The frequency of the ACE gene I/D allele in Iranian sample seems to be more similar to the Caucasians. To assess the possible relationship between I/D polymorphism of ACE gene with athletic status and selected cardiovascular indices and VO2max in an Iranian population, DNA samples were obtained from 57 trained and untrained men, with soccer as their main training modality. Genotyping for ACE I/D polymorphism was performed using polymerase chain reaction. VO2max was determined by an incremental test to volitional exhaustion on a motorized treadmill.ResultsI/D genotype was neither associated with elite athlete status nor with VO2max, resting heart rate, systolic and diastolic blood pressure. There was no interaction effect of training statue x ACE genotype for each of the examined indices.ConclusionsACE gene variation was not a determinant of cardiovascular function and VO2max in either trained or untrained Iranian participating in soccer. The absence of an association between either I/D genotype and elite Iranian athlete status and better cardiovascular function also suggests that the ACE gene does not contribute significantly to the phenomenal success of Iranian soccer players.

Angiotensin Converting Enzyme Gene Insertion/Deletion Polymorphism Is Not Responsible for Antihypertensive Therapy Induced New Onset of Type 2 Diabetes in Essential Hypertension.

Background:Antihypertensive drug therapies have been reported to be associated with new onset of type 2 diabetes mellitus in some hypertensive patients after prolonged use. Angiotensin converting enzyme (ACE) gene has been found to affect essential hypertension, response of antihypertensive therapies, and glycemic disturbances. Therefore, ACE gene I/D polymorphism may be associated with risk of new onset of type 2 diabetes via metabolic disturbances, glycemic dysregulation, and insulin resistance.Aim:To assess the correlation between ACE gene I/D polymorphism and glycemic disturbance under influence of diuretic and other antihypertensive drug therapies.Materials and methods:We recruited 270 normotensive patients as control (150 men and 120 women), 270 hypertensive patients (95 men and 175 women), and 240 hypertensive with new onset of diabetes patients (80 men and 160 women). All samples were genotyped for ACE gene polymorphic alleles and relationship between different genotypes and anthropometric and clinical parameters along with drug therapies was established and analyzed.Results:Baseline clinical (systolic blood pressure, diastolic blood pressure, and fasting blood glucose level) and anthropometric parameters (height, weight, waist circumference, hip circumference, waist-hip ratio, and body mass index) of study populations were found highly statistically significant (P < .05) when compared among study groups. Furthermore, genotype wise comparison of all these parameters in essential hypertensive (EH) and essential hypertensive with onset of diabetes (EHNOD) patients found most of them nonsignificant and no variation was found with respect to different genotypes of ACE gene. The genotype wise comparison of clinical parameters among different antihypertensive drug therapy was found statistically nonsignificant in both EH and EHNOD patients.Discussion:Anthropometric parameters can be taken as the risk indicator factors for hypertension and diabetes. However, ACE gene polymorphism may not be a risk factor for development of diabetes in hypertensive patients.Conclusion:The present study suggested that ACE gene polymorphism did not show any significant association with the risk of new onset of diabetes in EH patients and more detailed studies with large population size are needed.

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.&#x0D; 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.&#x0D; 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&gt; 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.&#x0D;

Role of selected polymorphisms in determining muscle fiber composition in Japanese men and women.

Genetic polymorphisms and sex differences are suggested to affect muscle fiber composition; however, no study has investigated the effects of genetic polymorphisms on muscle fiber composition with respect to sex differences. Therefore, the present study examined the effects of genetic polymorphisms on muscle fiber composition with respect to sex differences in the Japanese population. The present study included 211 healthy Japanese individuals (102 men and 109 women). Muscle biopsies were obtained from the vastus lateralis to determine the proportion of myosin heavy chain (MHC) isoforms (MHC-I, MHC-IIa, and MHC-IIx). Moreover, we analyzed polymorphisms in α-actinin-3 gene (ACTN3; rs1815739), angiotensin-converting enzyme gene (ACE; rs4341), hypoxia-inducible factor 1 α gene (rs11549465), vascular endothelial growth factor receptor 2 gene (rs1870377), and angiotensin II receptor, type 2 gene (rs11091046), by TaqMan single-nucleotide polymorphism genotyping assays. The proportion of MHC-I was 9.8% lower in men than in women, whereas the proportion of MHC-IIa and MHC-IIx was higher in men than in women (5.0 and 4.6%, respectively). Men with the ACTN3 RR + RX genotype had a 4.8% higher proportion of MHC-IIx than those with the ACTN3 XX genotype. Moreover, men with the ACE ID + DD genotype had a 4.7% higher proportion of MHC-I than those with the ACE II genotype. Furthermore, a combined genotype of ACTN3 R577X and ACE insertion/deletion (I/D) was significantly correlated with the proportion of MHC-I (r = −0.23) and MHC-IIx (r = 0.27) in men. In contrast, no significant correlation was observed between the examined polymorphisms and muscle fiber composition in women. These results suggest that the ACTN3 R577X and ACE I/D polymorphisms independently affect the proportion of human skeletal muscle fibers MHC-I and MHC-IIx in men but not in women.NEW & NOTEWORTHY In men, the RR + RX genotype of the α-actinin-3 gene (ACTN3) R577X polymorphism was associated with a higher proportion of myosin heavy chain (MHC)-IIx. The ID + DD genotype of the angiotensin-converting enzyme gene (ACE) insertion/deletion (I/D) polymorphism, in contrast to a previous finding, was associated with a higher proportion of MHC-I in men. In addition, the combined genotype of these polymorphisms was correlated with the proportion of MHC-I and MHC-IIx in men. Thus ACTN3 R577X and ACE I/D polymorphisms influence the muscle fiber composition in Japanese men.

Study of Angiotensin Converting Enzyme Gene Polymorphism in Egyptian Type 2 Diabetes Mellitus with Diabetic Kidney Disease

Objective: Diabetic kidney disease DKD (Diabetic nephropathy DN) is considered one of the chronic micro vascular complications of diabetes mellitus and considered the commonest cause leading to chronic renal failure and chronic renal dialysis. Genetic susceptibility has been implicated in DKD. The angiotensin converting enzyme (ACE) is one of the key roles in the renin angiotensin system cascade by converting angiotensin I to angiotensin II which plays a key role in regulation of blood pressure as well as electrolytes and fluid balance. This study addressed the association of (ACE) gene polymorphisms with DN in Egyptian (T2DM) patients. Methods: Our research comprised of 75 cases of T2DM with diabetic kidney disease, 100 cases of T2DM without DKD and 94 healthy volunteers. Different genotypes of ACE gene were determined by SSP-PCR analysis. Results: Gene polymorphism of ACE (DD, ID, II) in diabetic patient with DKD is 44%, 52%, 4% respectively and for T2DM individuals without DKD is 23%, 72%, 5% respectively. (DD) had significant higher frequencies in T2DM patients with DKD compared to those without DKD (p < 0.005) and (ID) had significant higher frequencies in T2DM without DKD (p < 0.0001). These results indicated that there is an association between ACE gene polymorphisms and susceptibility of diabetic patients to be affected by diabetic kidney disease. Conclusion: From our results, we can conclude that genotype of ACE in Egypt DD is the genotype of cases diabetic kidney disease. So the presence of D allele has a significant relation with diabetic kidney disease. Our data confirm the role of ACE in its relationship with diabetic kidney disease in Egyptian type 2 diabetic patients.

Association of DD genotype of angiotensin-converting enzyme gene (I/D) polymorphism with hypertension among a North Indian population.

Hypertension, a major risk factor for cardiovascular diseases, is among the leading causes of morbidity and mortality worldwide. Genetic predisposition to the risk of developing hypertension due to angiotensin-converting enzyme (ACE) gene insertion(I)/deletion(D) polymorphism (through altered serum ACE activity) is well documented among various populations. The present study investigated the possible association between ACE (DD) genotype and hypertension using a nested case-control study design including 451 individuals (of either sex in the age group 30-65 years) from a rural North Indian population practicing agriculture and lacto-vegetarianism. Blood Pressure was classified using JNC-7 criterion. Age- and sex-matched individuals were selected from normotensive (N-122), pre-hypertensive (N-123), hypertensive not on medication (N-122), and hypertensive on medication (N-84) categories. Amplification of DNA and genotyping of PCR product was done using standard protocols. From the analysis, comparatively higher frequency of individuals with DD genotype in the hypertensive category was observed, indicating a possible relation between DD genotype and hypertension. The odds ratio analysis revealed 2.225 (1.13-4.37)-fold significant increased risk for hypertension among cases, validating the vulnerability of individuals with DD genotype towards hypertension. Thus, the present study highlights the increased risk for developing hypertension due to ACE DD genotype in the studied population.

Angiotensin-converting enzyme insertion/deletion polymorphism and the longitudinal progression of Alzheimer's disease.

The angiotensin-converting enzyme gene (ACE) insertion (I)/deletion (D) polymorphism is considered a biologically plausible gene for Alzheimer's disease (AD) in cross-sectional studies. The present study aimed to investigate the longitudinal effect of ACE I/D polymorphism on AD progression. This 3-year observational study investigated the longitudinal effect of ACE I/D polymorphism on AD progression. Clinically diagnosed AD patients with a clinical dementia rating (CDR) of 0.5 or 1 were enrolled in the study. The Mini-Mental State Examination (MMSE), Cognitive Assessment Screening Instrument (CASI) and the CDR scale were carried out for all patients on the date of the initial interview and 36±6months after the initial evaluation. A total of 177 patients with sporadic AD were enrolled in this study. Among all patients, those with the I/I genotype showed a higher risk of CDR deterioration (I/I versus I/D+D/D: adjusted OR 2.103, 95% CI 1.113-3.972; adjusted P=0.022). Among 74 AD patients without hypertension, those with the I/I genotype showed significantly greater differences in the MMSE, CASI and the CDR-sum of box scores, and a higher risk of CDR deterioration (I/I versus I/D+D/D: adjusted OR 3.255, 95% CI 1.099-9.639; adjusted P=0.033) after adjustment for possible confounders during the 3-year follow up. Patients with AD who were homozygous for the I allele presented with a more rapid AD deterioration than did those who had other ACE genotypes, particularly those patients without hypertension. Geriatr Gerontol Int 2017; 17: 1544-1550.

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.

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.

Angiotensin-converting enzyme insertion/deletion polymorphism, 24-h blood pressure profile and left ventricular hypertrophy in hypertensive individuals: a cross-sectional study.

BackgroundThe absence of nocturnal blood pressure dipping (ND) identified by 24-h ambulatory blood pressure monitoring (ABPM) correlates with a worse cardiovascular prognosis. The renin–angiotensin system influences blood pressure levels and the occurrence of target organ damage (TOD). Thus, the aim of this study was to correlate the angiotensin-converting enzyme gene (ACE) insertion/deletion (I/D) polymorphism with the 24-h blood pressure profile and TOD in hypertensive individuals.Methods155 non-diabetic hypertensive individuals on antihypertensive treatment underwent ABPM. Peripheral blood samples were drawn for biochemistry and genetic analysis of the ACE I/D polymorphism by polymerase chain reaction. ND was defined as ≥10 % differences in the mean systolic blood pressure (BP) during wakefulness and sleep.ResultsThere were no differences in clinical or biochemical variables or TOD in respect to ND status, except for higher BP levels during sleep (p < 0.001) in non-dippers. There was significant difference in the prevalence of left ventricular hypertrophy (LVH) between ACE genotypes (II: 13.0 %; ID: 34.1 %; DD: 46.5 %; p value = 0.024) with an increased risk in carriers of the DD genotype (OR = 5.80; IC 95 % 1.50–22.44; p value = 0.011). Carriers of the D allele had higher systolic BP during wakefulness and by ABPM (p < 0.05), higher left ventricular mass (117.3 ± 50.0 vs. 100.3 ± 25.7; p value = 0.017) and higher prevalence of LVH (37.4 vs. 12.5 %; OR = 4.14; 95 % IC: 1.17–14.65; p value = 0.028), compared to the II genotype.ConclusionsThe DD genotype is associated with a higher prevalence of LVH. The presence of the D allele appears to be associated with higher mean 24-h and wake systolic BP measured by ABPM in hypertensive patients under antihypertensive treatment.

Association of Angiotensin-Converting Enzyme ACE Gene Polymorphism with ACE Activity and Susceptibility to Vitiligo in Egyptian Population.

The insertion/deletion (I/D) polymorphism of the angiotensin-converting enzyme (ACE) gene is associated with vitiligo in the Indians and Koreans, but not in those of English or Turkish background. We investigated the ACE (I/D) polymorphism in vitiligo patients for the first time in Egypt and compared serum ACE levels between vitiligo patients and controls. The present study was carried out in 100 vitiligo patients (40 males and 60 females) and in 100 healthy controls of an Egyptian population using the polymerase chain reaction genotyping method. The ACE genotype and allele frequency was significantly different between vitiligo patients and controls. Our results revealed a significant increase in the frequency of the ACE I allele (p=0.002; odds ratio: 1.99; 95% confidence intervals: 1.207-3.284) with an overrepresentation of I/D genotype in the vitiligo patient group. Furthermore, there was a significant difference between the segmental, nonsegmental, and focal vitiligo in ACE gene genotype distribution. Serum ACE levels were significantly increased in vitiligo patients compared to controls (p=0.034). This study suggests that, for the first time, ACE gene polymorphism confers susceptibility to vitiligo in the Egyptian population.

Relationship between polymorphism of angiotensin-converting enzyme gene insertion/deletion and risk of hepatocellular carcinoma in a Chinese Dai population.

The angiotensin-converting enzyme gene (ACE) is directly involved in the process of cancer cell proliferation, differentiation, apoptosis and angiogenesis. It also plays a vital role in inducing liver fibrosis and developing hepatocellular carcinoma (HCC). The aim of this study was to investigate the relationship between ACE insertion/deletion (I/D) polymorphism and the risk of HCC in a Chinese Dai population. We conducted a study including 210 patients with HCC and 206 healthy controls in Yunnan Cancer Hospital between January 2012-January 2014. I/D genotypes of ACE were determined with polymerase chain reaction (PCR) amplification of DNA from peripheral blood leukocytes. The ACE D allele was more frequent in the HCC cases than in the controls (51.7% vs 44.4%, p=0.036). Individuals with DD genotypes were associated with increased HCC risk compared with those with the II genotypes (odds ratio (OR), 1.911; 95% confidence interval (CI), 1.081-3.379; p=0.025). However, the ACE I/D polymorphism were not significantly associated with any clinicopathological characteristics such as the tumor stage, serum alpha-fetoprotein (AFP) level, and hepatitis B virus (HBV) infection. The DD genotypes of ACE I/D polymorphism might contribute to the prediction of HCC risk in a Chinese Dai population.