Angiotensin-converting Enzyme Gene Polymorphism Research Articles

The association of I/D polymorphism of ACE gene with metabolic factors of cardiovascular risk, structural and functional state of left cardiac chambers in patients with diabetic nephropathy and essential hypertension

Objective — to reveal an association of I/D polymorphism of ACE gene with metabolic factors of cardiovascular risk (CVR) such as visceral obesity (VO), insulin resistance (IR), dyslipidemia (DLP) as well as with indices characterized structural and functional state of left cardiac chambers in patients (pts) with diabetic nephropathy (DN) and essential hypertension (EH).
 Materials and methods. The investigation was conducted at the Clinical Department of Arterial Hypertensions and Kidney Diseases in L. T. Mala National Therapy Institute of NAMS of Ukraine (Kharkiv). Clinical examinations involved 82 pts, 42 (51.2 %) females and 40 (48.8 %) males with DN of I — IV stage and EH of II — III stage, aged 31 to 82 years old (an average age is (61.65 ± 1.28) years old). Three genotypes of I/D polymorphism of ACE gene included II — 18 (24.7 %), ID — 32 (43.8 %) and DD — 23 (31.5 %) of cases correspondingly were investigated in 73 (89.0 %) pts. Anthropometric measurements with calculations of body mass index (BMI), body fat percentage (BFP), body fat mass (BFM), fat mass index (FMI) were conducted by known formulas in all pts. Blood lipids were detected by enzyme method with measuring of total cholesterol, high‑density lipoprotein cholesterol (HDL‑C) and triglycerides (TG). Levels of cholesterol of very low density and low‑density lipoprotein (VLDL‑C, LDL‑C) were calculated by standard formulas. Blood glucose level was measured by glucose oxidase method and serum insulin was detected by immunoassay method. IR indices such as HOMA‑IR, triglyceride glucose index (TGGI) and METS‑IR (metabolic score for insulin resistance) were obtained by known formulas. I/D polymorphism of ACE gene (rs 4646994) was investigated with a usage of polymerase chain reaction. Structural and functional state of left cardiac chambers was estimated using transthoracic echocardiography. Systolic and diastolic blood pressure (SBP and DBP) were measured by Korotkov’s method. The results were statistically obtained with computer programs Microsoft Office Excel 2003 and Statistica 23.0.
 Results. In pts with II genotype, LDL‑C levels positively correlated with BFP (r = 0.490; p = 0.046) and BFM (r = 0.484; p = 0.049) in conditions with hypertriglyceridemia due to activation of visceral fat lipolysis in which a reverse correlation between relative thickness of left ventricle wall (RTLVW) and serum TG concentration (r = –0.540; p = 0.02) could be explained. In pts with ID genotype, presence of D allele in genotype was associated with an increase in RTLVW due to SBP influence (r = 0.358; p = 0.045). In genotype ID there was a relationship between IR index HOMA‑IR and BMI (r = 0.399; p = 0.029) and HOMA‑IR and FMI (r = 0.402; p = 0.025) that demonstrated VO participation of in the development of IR in pts with DN and EH and genotype ID. In pts with DN and EH, who had DD genotype, SBP level reversely correlated with HDL‑C (r = –0.498; p = 0.018) that could be explained by influence of IR on elevation of SBP and reduction of HDL‑C. In pts with DD genotype both SBP and DBP almost equally influenced on the left atrial diameter (r = 0.460; p = 0.036 and r = 0.453; p = 0.034 correspondingly). In pts with DN and EH whose had DD genotype IR index METS‑IR positively correlated with RTLVW (r = 0.419; p = 0.047) and left ventricle myocardial mass index (r = 0.518; p = 0.011) that confirmed an association of D allele of ACE gene with left ventricle hypertrophy caused both by EH and IR.
 Conclusions. It has been established that in patients with diabetic nephropathy and essential hypertension, the I/D polymorphism of ACE gene was associated with such metabolic factors of cardiovascular risk as visceral obesity, insulin resistance, dyslipidemia, and pathological left ventricle remodeling.

Angiotensin-converting enzyme gene (ACE) polymorphisms are associated with dysregulation of biochemical parameters in hypertensive patients.

The genetic component, including genes and their variants, plays a significant role in the pathophysiology of arterial hypertension (AH). Thus, clinical, epidemiological and genetic studies have been carried out to improve the understanding of disease mechanisms, improve diagnostic quality and contribute to prevention. To determine the association of risk factors, biochemical parameters and different ACE gene polymorphisms with AH. The case-control study was carried out in the population of Ouro Preto, Brazil. The subjects answered a questionnaire containing clinical and sociodemographic data. The ACE gene polymorphisms rs4291, rs4363 and rs4335 were evaluated by real time-polymerase chain reaction (real-time PCR) in 310 people (155 hypertensive and 155 normotensive patients), in addition to biochemical parameters. A multivariate logistic regression model was used to identify factors associated with AH. Analysis of continuous variables was performed using the Kruskal-Wallis test to assess significance between groups and Dunn's post-test for multiple comparisons. The results showed that AH was associated with age, education, smoking, obesity and high levels of triglycerides, sodium, glucose and uric acid. Regarding the biochemical parameters, in hypertensive patients, the rs4363 and rs4335 polymorphisms were associated with high levels of triglycerides, urea and glucose; the rs4291 polymorphism was associated with elevated urea and glucose levels. No association was detected between SNPs and HA. AH was associated with socioeconomic status, lifestyle habits and biochemical parameters. ACE polymorphisms may have influenced the levels of triglycerides, urea and glucose in hypertensive patients.

Investigation of Serum Angiotensin-Converting Enzyme (ACE) Concentration and ACE Gene Polymorphism in Patients With SARS-CoV-2 Pneumonia Admitted to the Emergency Department.

Background This study seeks to investigate the distribution of the angiotensin-converting enzyme (ACE) gene polymorphism and serum levels in patients with viral pneumonia and predict which polymorphism will lead to severe progression of the disease. Methodology The serum ACE levels and ACE gene polymorphisms were successfully evaluated with respect to subsequent viral pneumonia using records of 100 patients with viral pneumonia and 100 healthy controls. Results ACE serum concentration was statistically significantly elevated. ACE serum concentration with a cut-off value of ≥5,256.05 pg/mL had 85.3% sensitivity and 83.2% selectivity. In addition, patients with ACE genotype D/D were 0.08 times more likely to manifest severe lung involvement than those with I/I, and patients with the I/D genotype were 0.02 times more likely than their counterparts with I/I. The computed tomography findings of the patients revealed that ACE serum concentration was significantly effective in discriminating between mild and moderate-to-severe lung involvement. No significant difference was observed between the blood parameters and ACE genotype distributions. Conclusions I/D polymorphism likely affects the expression of the ACE gene and/or the function of the angiotensin I converting enzyme. The D/D genotype is associated with vessel wall thickness and higher blood pressure. Strong evidence was found between D/D and I/D genotypes in the patient cohort concerning genotypes and ACE serum concentration. Further analysis showed that ACE serum levels were more elevated in the D/D genotype compared to the I/D genotype in the patient cohort.

COPEPTIN LEVEL IN PATIENTS WITH DIABETIC NEPHROPATHY WITH ACE GENE POLYMORPHISM

Aim of the study was to determine the copeptin level in the blood serum of patients with type 2 diabetes mellitus (T2DM) depending on the kidney’s function and accounting for the Alu Ins/Del (rs4646994) polymorphism of the angiotensin-converting enzyme (ACE) gene. Materials and methods: 146 patients with T2DM complicated by diabetic nephropathy (DN) were examined. Patients were divided into 4 groups according to the chronic kidney disease stage. Control group – 30 healthy subjects. Serum levels of copeptin and insulin were determined by ELISA using appropriate kits in accordance with the manufacturers' instructions. Genotyping was performed using TagMan allelic discrimination assay. Results. Our study has shown that the development of DN in T2DM is accompanied by a significant increase of copeptin level in blood serum compared with the control group and with diabetic patients without signs of nephropathy. The highest copeptin levels were found in patients with albuminuria and impaired glomerular filtration rate. In patients with T2DM, a significant linear correlation founded between copeptin level and serum creatinine (r = 0.247, p < 0.03). We found more significant violations of glucose metabolism in DN patients with high serum levels of copeptin compared with patients with normal values of this factor. In particular significant increase in serum, copeptin was accompanied by an increase in the HOMA index and insulin level. In patients with T2DM – carriers of the homozygous I/I genotype were founded a reliable association with increasing copeptin levelы in blood serum, in contrast to D/D and I/D genotypes. Conclusions. The highest copeptin levels were founded in carriers of the homozygous I/I genotype of the Alu Ins/Del polymorphism of the ACE gene. An increase in the copeptin level has a certain genetic determinism, and its high level correlates with impaired glucose metabolism and the development of nephropathy in T2DM. Serum copeptin can be considered as a diagnostic marker of renal and metabolic lesions in T2DM. Keywords: diabetic nephropathy, copeptin, arginine-vasopressin system, diabetes mellitus, angiotensin-converting enzyme, ACE gene polymorphism.

Association of ACE2 Gene Variants with the Severity of COVID-19 Disease-A Prospective Observational Study.

The COVID-19 pandemic, caused by severe acute respiratory syndrome coronavirus 2 virus (SARS-CoV-2), has triggered an enormous scientific response. Many studies have focused on understanding the entry of the SARS-CoV-2 virus into the host cell. The angiotensin-converting enzyme-2 (ACE2) is recognized as the host receptor used by SARS-CoV-2 to enter its target cells. Recent studies suggest that ACE2 gene polymorphisms might be candidates for genetic susceptibility to SARS-CoV-2 infection. The aim of this study is to evaluate the influence of ACE2 polymorphisms on COVID-19 disease risk and severity. In our study, we confirmed that there is a statistically significant increased risk of a more severe disease course of SARS-CoV-2 infection associated with the need for hospitalization in intensive care for patients with specific polymorphisms of the ACE2 gene. The most significant correlation was found for variant ACE2 rs2285666 (AA allele, OR = 2.12, p = 0.0189) and ACE2 rs2074192 (TT allele, OR = 2.05, p = 0.0016), and for ACE2 rs4646174 (GG allele, OR = 1.93, p = 0.0016), ACE2 rs4646156 (TT allele OR = 1.71, p = 0.008) and ACE2 rs2158083 (TT allele OR = 1.84, p = 0.0025). In conclusion, our findings identify that certain ACE2 polymorphisms impact the severity of COVID-19 disease independently of other well-known risk factors.

Polymorphisms of ACE and thrombophilic genes: risk for recurrent pregnancy loss

BackgroundRecurrent pregnancy loss (RPL) affects up to 5% of pregnancies, but with no consensus on the definition. Inherited thrombophilia has been postulated as a risk factor for RPL. The aim...

Comparative study on efficacy of chlorthalidone and azilsartan in confirmed cases of hypertension associated with ace gene polymorphism

The angiotensin-converting enzyme (ACE) gene consists of 26 exons, it is located on chromosome 17 and its polymorphism is a major contributing factor to hypertension. The aim is to compare the efficacy of Chlorthalidone and Azilsartan in newly diagnosed hypertension patients in association with ACE gene polymorphism. The study was conducted in the department of pharmacology, Rama medical college, Kanpur. After doing genetic test and basic investigation, 90 newly diagnosed patients with hypertension associated with ACE gene polymorphism were recruited, followed by grouping into two A&B. Group-A(n=45) patients were given Azilsartan 45mg/day and group-B(n=45) patients were given Chlorthalidone 25mg/day for 3 months. Systolic and diastolic blood pressure (SBP& DBP) was measured before and after 3 months of treatment in both groups and they were compared. Three genotypes were found in ACE gene polymorphism-associated hypertension cases such as I/I, I/D and D/D, the severity of hypertension is more in the D/D genotype followed by I/D and I/I genotypes. All three genotypes of both group-A & B had shown a significant mean reduction in SBP& DBP after 3 months of treatment (p<0.05) but the mean reduction was high in the I/I genotype followed by the I/D and then D/D genotype.

Association of insertion/deletion polymorphism of angiotensin converting enzyme gene with metabolic components of polycystic ovary syndrome

Background: Polycystic ovary syndrome (PCOS) has taken the prime position as an endocrine disease in women of reproductive age and is estimated to affect 2.2–22.5% worldwide and in Indian women it ranges from 9% to 12%. The primary defects that cause PCOS still remains unknown. A lot of genetic factors not excluding polymorphisms and mutations of multiple genes have been linked with PCOS, exact mechanisms which might be the cause of PCOS are yet unknown. Angiotensin converting enzyme (ACE) and its yields are related with angiogenesis of ovarian epithelium, restoration of meiosis, steroidogenesis, and follicular growth. Aims and Objectives: The present study was aimed to establish the association of ACE insertion/deletion (I/D) polymorphism in PCOS patients and to assess the influence of this polymorphism on the metabolic components of PCOS. Materials and Methods: Genomic DNA was extracted from blood obtained from 100 patients with PCOS and 100 healthy controls following ethical guidelines. DNA was amplified by polymerase chain reaction (PCR) using I/D distinct allele primers. PCR products were assessed after being exposed to gel electrophoresis. Results were analyzed in respect to biochemical parameters. Results: The allelic frequency and genotypic distribution of the ACE gene polymorphism is associated with PCOS in women. The concentrations of testosterones as well as luteinizing hormone/follicle stimulating hormone ratio among the distinct genotypes were significantly different. The presence of “D” allele in a population more likely to be associated with formation of polycystic ovary and hyperandrogenism was observed. Conclusion: The data suggest that ACE I/D polymorphism and PCOS pathology are unassociated. However, aggravation of clinical symptoms of PCOS can be linked to the steroidogenesis which, in turn, is associated with the polymorphism.

Evaluation of the soldier's physical fitness test results (strength endurance) ın relation to genotype: longitudinal study

BackgroundThe aim of this study is to determine the effect of ACE gene polymorphism on the parameters studied (push-up & sit-up) in a long-term study, which has been carried out for many years and to find out whether the differences in ACE gene's metabolism due to the influence of parameters such as outside impacts and lifestyle (active or sedentary life) have a role in the development of strength endurance or not.Main text59 male army officers made up the research team. A follow-up study of strength endurance (push-up and sit-up) test was conducted in the gym. The exam took two minutes to complete, and each application was tested separately. In both 2004 and 2019, persons with genotype ID had the best mean sit-up and push-up outcomes, followed by participants with genotype DD, and finally participants with genotype II (P 0.05). Compared to the original rates in 2004, all genotype groups showed a significant reduction in push-up and sit-up scores in the test.ConclusionThe findings of this study may reveal if strength and lifestyle choices affect the metabolic implications of the genetic polymorphism in the body. Particular varieties actuated by genes, on either hand, don’t result in significant improvements without any changes in individuals’ practices or ways of living, as per the conclusions.

Association of angiotensin converting enzyme gene polymorphism with diabetic nephropathy in patients using lisinopril

Angiotensin Converting Enzyme (ACE) plays an important role in the development and progression of Diabetic nephropathy (DN). The present study was designed to determine the possible association between ACE gene polymorphism and DN. The study included 242 samples: DN (n = 121), type 2 Diabetes mellitus (DM2) (n = 60) and control (n = 61). The blood samples were collected from the subjects, followed by DNA extraction. Insertion deletion polymorphism of ACE gene studied using specific primers. Patients using Lisinopril were followed for two months. The ACE genotype distribution in DN patients was as follows: DD (n = 47; 38.84%), II (n = 17; 14.04%) and DI (n = 57; 47.10%). In DM group the genotype distribution was DD (n = 4; 6.66%), II (n = 25; 41.66%) and DI (n = 31; 51.66%) while in control group DD (n = 38; 62.29%), II (n = 1; 1.63%) and DI (n = 22; 36.06%). The comparison of II genotype to DD genotype was reflected by p-value =0.0001, OR=17.28 and 95% CI 5.313-49.58. The percent decrease of micro-albuminuria after two months with the use of Lisinopril 10 mg twice a day in DD, II and DI genotype of DN were 31.27%, 12.37% and 16.81%, respectively. Our findings revealed that DD genotype has strong association with DN but not a risk factor for development of disease.

Association of Angiotensin Converting Enzyme gene polymorphism in anemic patients with regular haemodialysis in Sohag University Hospital

Association of Angiotensin Converting Enzyme gene polymorphism in anemic patients with regular haemodialysis in Sohag University Hospital

Association of angiotensin-converting enzyme gene polymorphism (rs1799752) with type 2 diabetes mellitus, hypertension and chronic kidney disease and, its clinical relevance

Background: The renin–angiotensin–aldosterone system (RAAS) is important in regulating blood pressure and electrolyte balance. The main effector hormone of the RAAS is angiotensin II, which is generated from angiotensin I in the circulation and in the tissues, mostly as a result of the action of angiotensin-converting enzyme (ACE). The ACE gene has received substantial attention in recent years as a candidate gene for a variety of diseases. Objective: This study was conducted to determine the association of insertion/deletion (I/D) polymorphism of ACE gene in type 2 diabetes mellitus (T2DM), hypertension (HT), and chronic kidney disease (CKD) subjects among South Indian regional population. Methods: A total of 105 subjects participated in this study including 30 T2DM (Group 1), 30 HT (Group 2), 35 CKD (Group 3) patients and 10 controls (Group 4). Blood samples were collected and biochemical investigations were done. Polymerase chain reaction amplification was performed to genotype the DNA. The distribution and allelic frequency of I/D (rs1799752) polymorphism at the 287-base pair Alu repeat sequence in the intron 16 of ACE gene were analyzed using specific primers. Results: The ACE genotypes were distributed as II, 17%; DD, 47%; and ID, 37% in the T2DM group; II, 10%; DD, 50%; and ID, 40% in the HT group; II, 17%; DD, 54%; and ID, 29% in the CKD group; and II, 50%; DD, 20%, and ID, 30% in the control group. The frequency of DD genotype was significantly higher in HT (P = 0.05) and CKD patients (P = 0.05) compared to controls. In codominant model analysis, DD genotype versus II genotype was associated with increased risk of T2DM (odds ratio [OR] = 4.37; 95% confidence interval [CI] = 1.31–14.504), HT (OR = 9.0; 95% CI = 2.23–36.17), and/or CKD (OR = 5.73; 95% CI = 1.906–17.282), respectively. The D allele was more frequent in T2DM (65%), HT (70%), and CKD patients (69%) compared to controls (35%) (P = 0.018, P = 0.005, and P = 0.006, respectively). The D allele was associated with increased risk of T2DM (OR = 3.44; 95% CI = 1.19–9.96), HT (OR = 4.33; 95% CI = 1.48–12.65), and CKD (OR = 4.05; 95% CI = 1.42–11.55). Conclusion: The DD genotype and the D allele of the ACE I/D gene polymorphism can be a risk factor for T2DM, HT, and CKD in South Indian regional population. This result suggests that T2DM and HT patients should be offered analysis to identify defects in ACE I/D polymorphism, which might help to determine the course of CKD disease and aid to choose appropriate antihypertensive therapy with ACE inhibitor/angiotensin receptor blockers.

ACE gene polymorphism and features of kidney disorders in patients with type 2 diabetes mellitus

Objective — to determine the prevalence of the Alu Ins/Del polymorphism of the angiotensin‑converting enzyme (ACE) gene in patients with type 2 diabetes mellitus (DM 2) with nephropathy and to identify possible associative relationship between the course of the disease and the genetic profile of the examined subjects.
 Materials and methods. Examinations involved 73 patients with diabetic nephropathy (DN), treated in the hospital of L. T. Mala Therapy National Institute. The control group consisted of 19 healthy individuals. After the initial examination and depending on the polymorphic variant of the ACE gene, patients were divided into three groups: group I — carriers of D/D polymorphism of the ACE gene (n = 23); group II — patients with I/D polymorphism of the ACE gene (n = 32); Group III — patients with I/I polymorphism of the ACE gene (n = 18). DNA amplification and genotyping were carried out by real‑time polymerase chain reaction (PCR) using the SNP‑Express‑Shot reagent kit (Litech, RF) and the CFX96 touch real‑time PCR product detection system (BioRad).
 Results. The distribution of the genotypes of the Alu I/D polymorphism of the ACE gene corresponded to the Hardy‑Weinberg equilibrium in all studied groups and did not differ significantly from European populations. Comparison of patients with DN, carriers of different Ins/Del polymorphic variants of the ACE gene, did not show significant differences in the stages of chronic kidney disease, creatinine level, and glomerular filtration rate (GFR). Patients with type 2 DM, homozygous for the I/I allele of the ACE gene, had significantly lower levels of urinary albumin (16.80 [12.61 — 34.20] mk/ mL), compared with I/D heterozygotes (26.07 [20.91 — 44.27] mkg/mL), p < 0.05, which demonstrates the negative effects of D allele on the kidney damage progression in this category of patients, even under the same GFR.
 Conclusions. Patients with DN who are homozygous for the ACE gene allele I, have significantly lower albumin levels than I/D heterozygotes, demonstrating an association between the D allele and the progression of renal disease in type 2 DM. Determining the ACE gene polymorphism in patients with type 2 DM allows to identify risk groups for the DN development and will help to make individualized adjustments to the scheme of pharmacological therapy.

Atrial Fibrilasyon İle ACE Gen Polimorfizmi Arasındaki İlişkinin İncelenmesi

Giriş ve Amaç: Atriyal fibrilasyon (AF) kardiyovasküler kaynaklı ritim bozuklukları içinde en sık görülenidir. Renin angiotensin sistemi (RAS)’nin AF patofizyolojisinde önemli bir role sahip olduğu ileri sürülmektedir. Yapılan çalışmalarda, ACE gen polimorfizmi ile AF arasında bir ilişki olduğu belirtilmiştir. Bu çalışmada, bizim toplumumuzda ACE gen polimorfizmi ile AF arasındaki ilişkiyi inceledik.
 Gereç ve Yöntemler: Bu polimorfizmin analizi 97 hasta ve 83 sağlıklı kontrolde gerçekleştirildi. Bu analiz için Polimeraz zincir reaksiyonu ve kısıtlayıcı enzim kesimi kullanıldı. 
 Bulgular: Hasta ve kontrol grubunda ACE II, ID ve DD genotip dağılımları sırasıyla, II: % 17.5, ID: %42.3, DD: %40.2; II: % 27.7, ID: % 48.2, DD: %24.1 olarak bulunmuştur. ACE I ve D alel frekansları ise hasta grubunda I: 0.386, D: 0.614 iken kontrol grubunda I: 0.518, D: 0.482 olarak tespit edilmiş olup hasta ve kontrol grupları arasında anlamlı bir ilişki olduğu saptanmıştır (X2 = 5.98 ve p=0.050).
 Sonuç: Bu çalışmada, bizim toplumumuzda, ACE genindeki I/D polimorfizmi ile AF arasında istatiksel olarak anlamlı bir ilişki olduğu saptanmıştır

Angiotensin-converting Enzyme Inhibitors in the Treatment of Sarcoidosis and Association with ACE Gene Polymorphism: Case Series

Angiotensin-converting enzyme (ACE) is used as a marker for sarcoid disease activity. We present an observational study of four African-American patients all of whom demonstrated improvement in their sarcoidosis after treatment with ACE inhibitors for hypertension.

Effect of ACE I/D polymorphism in cardiovascular disease patients

Cardiovascular diseases (CVD) are the cause of the highest mortality rate among noncommunicable diseases, Some of the main risk factors for CVD include smoking, hypertension, high body mass index, lipid metabolism disorders, and diabetes mellitus, according to emerging evidence, Genetics and polymorphisms are thought to play an important role in the occurrence and progression of CVD. A number of 100 subjects were involved in this investigation, 70 of them with CVDs and the other 30 healthy individuals were used as control. The study was conducted to find out the importance of ACE gene polymorphism and biochemical variables in CVDs patients. In addition, the study aimed to investigate the effect of gene polymorphism on CVDs. The comparisons between genotypic frequency of ACE gene polymorphism in control and CVDs patients showed a significant increase (p≤0.005) in DD, ID genotype in CVDs patients compared to control , where II genotype significant decreased in CVDs patients compared to control. Our results show insertion mutation at 550bp only in CVDs patients, this mutation not show in other research.

Association of ACE gene polymorphisms with cardiovascular events in patients after elective percutaneous coronary interventions

Aim. To reveal the association of the INS/DEL polymorphism of the angiotensinconverting enzyme (ACE) gene with acute and long-term complications of elective percutaneous coronary interventions (PCI).Material and methods. This prospective study included 286 patients with chronic coronary artery disease who underwent elective endovascular myocardial revascularization in accordance with current guidelines. The ACE gene INS/DEL (I/D) polymorphism was determined in patients using polymerase chain reaction. Acute periprocedural complications were recorded. Acute myocardial injury (AMI) was detected in 30,4% of patients. Type 4a acute myocardial infarction developed in 3,1% of patients. A significant decrease in the glomerular filtration rate by more than 30% due to periprocedural acute kidney injury (AKI) was diagnosed in 6,5% of patients. Outcomes of elective PCIs were assessed after 4 years via telephone interviews. Cardiovascular and any-cause mortality was 3,6% and 5,1%, respectively. Acute coronary syndrome during the follow-up period developed in 15,2%, while cerebrovascular accident — in 5,4% of patients. Any-stent thrombosis was detected in 10%, and restenosis ≥30% — in 21,8% of patients. Statistical analysis was carried out using the STATISTICA 10. The odds ratio (OR) was calculated with a 95% confidence interval.Results. Analysis of the association of ACE gene I/D polymorphism with acute and long-term complications of the PCI revealed that the presence of I allele is associated with the risk of periprocedural AKI (p=0,017; OR, 2,627 (1,161- 5,947)), as well as long-term cardiovascular events, vascular complications such as acute coronary syndrome (p=0,045; OR, 1,610 (1,007-2,573)) and stent thrombosis (p=0,01; OR, 2,073 (1,178-3,650)). The presence of genotype II further increases the risk of AKI (p=0,029; OR, 5,138 (1,022-25,824)), any acute clinical complications of PCI (p=0,041; OR, 1,996 (1,024-3,980)), and stent thrombosis (p=0,018, OR, 3,498 (1,178-10,392)).Conclusion. In patients with chronic coronary artery disease, the carriage of allele I and genotype II of the ACE gene I/D polymorphism is associated with the risk of acute clinical complications of elective PCI, periprocedural AKI, as well as the risk of stent thrombosis and acute coronary syndrome within 4-year follow-up period after PCI.

Association of Angiotensin-converting Enzyme Gene Polymorphism with Susceptibility to Asthma Disease in Western Iran.

Asthma is a complex disease caused by a combination of multiple genetic and environmental factors. Angiotensin-converting enzyme (ACE) is involved in the pathogenesis of asthma by inactivating bradykinin, substance P, and neurokinin A. It has been shown that the level of ACE variation in serum is associated with an insertion-deletion (I/D) polymorphism. So, this study aimed to investigate the association of these polymorphisms with asthma in western Iran. In this case-control study, 111 asthmatic patients as a case group and 80 healthy subjects as a control group were evaluated. The ACE gene polymorphism was determined by the PCR method. The relationship between genotypes done by the χ2 test and the relative risk of disease with genetic polymorphism (Odds Ratio) was performed using logistic regression. The frequency of I/D genotypes (included in II, ID, and DD) between patient and control groups had no significant difference. In addition, none of the genotypes in the patient and control groups show any significant differences between men and women. However, the frequency of ID and DD genotypes was considerably different between the male patient groups (over and under 40 years old). Hence, these genotypes are suggested to be a risk factor for asthma. The results of our study indicate that ACE gene polymorphism is not significantly associated with asthma in the west of Iran.

Systematic review and meta-analysis of candidate gene association studies of benign prostate hyperplasia

BackgroundBenign prostate hyperplasia (BPH) is the most common urological problem in elderly males. Recent studies have reported polymorphism in various metabolic genes in BPH. However, their association with the susceptibility of BPH is still inconsistent. Here, we systematically reviewed and performed a meta-analysis of CYP17, VDR, and ACE genes to determine their precise association with the risk of BPH.MethodsA comprehensive literature search for published studies on candidate gene associations involving vitamin D receptor (VDR), angiotensin-converting enzyme (ACE), and CYP17 genes with the risk of BPH was done up to April 2020 in PubMed, Scopus, Cochrane Central Register of Controlled Trials (CENTRAL), and Google Scholar databases. Fixed/random effects models were used to estimate the odd’s ratio (OR) and 95% confidence intervals (CIs). Begg’s funnel plot was used to assess the potential for publication bias.ResultsWe found a total of 23 studies containing 3461 cases and 3833 controls for these gene polymorphisms. A significant association of ACE gene polymorphism was observed under the recessive (II vs. ID + DD) model for BPH susceptibility compared to control subjects (overall OR = 1.67, 95% CI = 1.03–2.73). Similar trends were observed for ACE gene polymorphism in Caucasian (OR = 6.18, 95% CI = 1.38–27.68) and Asian (OR = 1.42, 95% CI = 0.99–2.03) populations under study. No significant association was observed in VDR and CYP17 gene polymorphisms in any dominant or recessive models.ConclusionSignificant OR demonstrated the implication of ACE gene polymorphism in the proliferation of prostate tissue, which in turn is associated with BPH susceptibility. However, prospective studies at large scale and sample size are needed to confirm the current findings.

Assessment of angiotensin converting enzyme gene polymorphism in patients with psoriasis

Psoriatic patients had diversity of clinical presentations and complications. Psoriasis can have significant interference with the patient's quality of life, recovery, and outcome. Some evidences suggest that the angiotensin converting enzyme (ACE) is present in the skin of psoriatic patients. This study intended to assess the patterns of ACE insertion/deletion (ACE ID) polymorphism and the levels of serum ACE among psoriatic patients in comparison to normal controls. The study included two groups: 20 patients with psoriasis and 20 apparently healthy adults with negative family history of psoriasis as a control group. Psoriasis area and severity index (PASI) was used to measure of severity of psoriasis. In both groups, ACE ID gene polymorphism was assessed by quantitative real-time polymerase reaction and serum ACE levels was evaluated using an enzyme-linked immunosorbent assay. ACE ID genotype was significantly higher among the psoriatic group in comparison to the control group (40.0% versus 15.0%, respectively, p=0.016). D allele was significantly higher among the psoriatic group than the control group (25.0% versus 7.5%, respectively, p=0.034). ACE ID genotype carried significantly higher risk in psoriatic group versus control group (OR=3.8). The D allele carried higher risk in psoriatic group versus control group (OR=4.1). ACE serum levels were significantly higher among the psoriatic group compared to the control group (87.4±7.03 versus 2.3±0.7, respectively; p < 0.001). We concluded that ACE ID gene polymorphism may be considered as a risk factor for developing psoriasis.