Angiotensin I-converting Enzyme Gene Research Articles

Investigation of the Effects Of ACE Gene Polymorphism on Athletic Performance in Active Adult Males

Studying genes associated with exercise-related physiological systems and metabolic pathways has proven to be an effective method for identifying genetic markers associated with enhanced athletic performance. One of the extensively studied genes in genetics is "Angiotensin I-converting enzyme (ACE)" which has a significant role in regulating blood pressure, plasma volume, and the development of cardiac and skeletal muscle. The objective of this study was to determine the different results and genetic variations in the effects of ACE gene polymorphisms on the performance of the 30m sprint test and the arrowhead agility drill test in active adult males after a 6-week training program. Following the manufacturer's instructions, genomic DNA was extracted from participant mouth swab samples using the Buccalyse DNA Extraction Kit from Isohelix. The Statistical Package for the Social Sciences (SPSS) 25 application was used to perform statistical analysis on the research data. The findings indicate that 45.7% of the participants possess the I/D genotype, 31.4% possess the I/I genotype, and 22.9% possess the D/D genotype. There was no notable disparity in the performance of the arrowhead agility test and the 30 m sprint test among the different genotype groups (p<0.05). Our analysis revealed a lack of association between genetic variants and the values obtained from performance measurements in the test outcomes. Due to the involvement of various genes and variables, further research is needed to improve the predictability of approaches to ACE gene variations, considering their performance-enhancing benefits.

Seeking for associations of I/D polymorphism of ACE gene with self-reported work performance, memory, and cardiovascular health in a professional leadership community

Introduction. Maintaining labor efficiency, working under conditions of stress and uncertainty, high level of requirements to the functional state of workers in various professions actualize the occupational health study of work performance. Methodological applications of predictive medicine and psychogenetics make it possible to identify specific hereditary (biological) predispositions of individuals, to carry out professional orientation of a person, to provide humanistic recommendations on occupation of a certain type of professional activity.
 The study aims to identify a correlation between ACE genotypes and work performance capability in individuals from a professional leadership community.
 Materials and methods. Individuals from a professional leadership community, after dividing into two cohorts consisting of entrepreneurs and non-entrepreneurs, were interviewed and genotyped for evidence of genotype-by-insertion/deletion (I/D) polymorphism associations of the angiotensin I converting enzyme (ACE) gene and health status. Answers to 4 questions characterized the state of work performance and memory, and another 4 questions characterized the cardiovascular system. The mean age was 37±1.7 years for entrepreneurs and 34.23±0.66 years for non-entrepreneurs. There were 44 females and 129 males among them.
 Results. Analysis of genotyping of 173 people (25 entrepreneurs and 148 non-entrepreneurs) revealed a significant deviation of actual frequencies of I and D alleles from theoretically expected values in the whole group of managers and between non-entrepreneurs (p=0.95, χ2>3.8). In all groups, there was a marked increase in the frequency of the I/I genotype at the expense of a decrease in the frequency of the D/D genotype compared to the literature data. A significant difference between D/D and I/D genotypes in work performance was found in entrepreneurs (p=0.9817), which coincides with a significant difference between their representatives by age (p>0.99). Contrary to expectations, representatives of the D/D genotype, at least entrepreneurs, demonstrated the most optimal level of functioning of the autonomic nervous system. No associations were found between the genotype for the ACE gene (rs4646994) and work performance and memory.
 Conclusion. In the total sample of leaders and among the subgroup of non-entrepreneurs, a strong and reliable change in the frequencies of alleles I and D was found compared to the theoretically expected (frequencies). There was a significant increase in the frequency of I/I genotype in all groups. The significant difference in the rates between the D/D and I/D groups coincides with a significant difference between their representatives in terms of age. According to the results of test answers, representatives of entrepreneurs of D/D genotype had the most optimal level of vegetative nervous system functioning.

The role of angiotensin I - converting enzyme (ACE) insertion/deletion gene polymorphism in hypertension and ACE inhibitor therapy: a narrative review

Primary hypertension is the most prevalent type of hypertension, which is primarily attributed to genetic factors. The angiotensin-converting enzyme (ACE) gene has emerged as a prominent candidate among the genetic factors influencing blood pressure regulation. The ACE gene encodes the ACE, which plays a crucial role in the renin-angiotensin system. The ACE gene insertion/deletion (I/D) polymorphism is a variation of the ACE gene that affects blood pressure regulation. Individuals with II, ID, and DD genotypes may exhibit distinct ACE plasma concentrations, potentially contributing to variations in blood pressure levels and response to ACE inhibitor therapy. This article aimed to provide a comprehensive overview of the relationship between the ACE I/D gene with hypertension and angiotensin-converting enzym inhibitor (ACEI) effectiveness. This article presents a narrative review encompassing relevant studies published between 2013 and 2023. A systematic search was conducted using reputable databases such as PubMed, Science Direct, and Scopus. Inclusion criteria were applied, resulting in the selection of 25 articles that met the predefined criteria. The analysis included 25 studies, comprising 5 articles that investigated the impact of ACEI therapy and 20 articles that examined the ACE I/D gene polymorphism in hypertensive populations without ACEI therapy. It can be concluded that compared to the I allele, the D allele of the ACE I/D gene is associated with a higher level of essential hypertension and a reduced ACEI response.

GENETIC ASPECTS OF PROOXIDANT-ANTIOXIDANT BALANCE IN PATIENTS WITH DIABETIC NEPHROPATHY

The aim of this work is to study the state of the prooxidative-antioxidant balance in patients with diabetic nephropathy depending on the functional state of the kidneys and taking into account the polymorphism of ACE gene. Participants and methods. This study involved 82 patients with type 2 diabetic and nephropathy. The control group consisted of 20 healthy individuals. The prooxidant-antioxidant balance of blood serum was calculated as the ratio of total hydroperoxide content to total antioxidant activity. The content of total hydroperoxides and total antioxidant activity were determined by the colorimetric method. Results. Oxidative stress plays an important role in the pathogenesis of diabetic nephropathy. Angiotensin I-converting enzyme (ACE) gene polymorphism is associated with the development and progression of acute and chronic kidney diseases. However, the features of antioxidant protection in patients with diabetic nephropathy, who are carriers of different genotypes of this polymorphism, have not been studied. Association analysis using the SNPStats online program has demonstrated that in patients with diabetic nephropathy, the I/I polymorphism is associated with an increase in the concentration of total hydroperoxides in blood serum (difference = 23.62 (6.16-41.08); p = 0.017 — codominant model inheritance; difference = 22.73 (7.70-37.75); p = 0.0042 — recessive model of inheritance). We found a significant increase of total hydroperoxides in diabetic nephropathy patients - carriers of the homozygous I/I genotype of the ACE gene polymorphism, compared to carriers of the D-allele (I/D and D/D genotypes), p=0.03.The highest values of prooxidant-antioxidant balance of blood serum in patients with diabetic nephropathy are noted in carriers of the I/I and I/D genotypes of the ACE gene/ These findings may indicate a negative effect of the I allele on the general state of the prooxidant-antioxidant balance in this category of patients. Conclusions. The analysis of the data we obtained allows us to assume an important influence of the ACE gene polymorphism on the pathogenesis of diabetic kidney disease due to changes in the prooxidant-antioxidant balance in patients with type 2 diabetes.

No Association of Angiotensin-Converting Enzyme Insertion/Deletion (ACE I/D) Gene Polymorphism in the Susceptibility to Diabetic Retinopathy in Type 2 Diabetes Mellitus Patients: An Updated Meta-Analysis.

Diabetic retinopathy (DR) is a complex and multifactorial pathology encompassing environmental, metabolic, and polygenic influences. Among the genes possibly involved in the development and progression of DR, the Angiotensin I-converting enzyme (ACE) gene stands out, which presents an insertion (I) or deletion (D) polymorphism of a 287 bp Alu repetitive sequence in intron 16. Thus, this study aimed to perform a systematic review with meta-analysis to elucidate the relationship between the ACE gene (I/D) polymorphism (rs1799752) and the development and progression of DR in type 2 diabetic patients. PubMed/MEDLINE, Embase, Web of Science, and Scopus databases were systematically searched to retrieve articles that investigated the association between ACE gene (I/D) polymorphism in DR patients. Sixteen articles were included in the systematic review. The results describe no significant association between the polymorphism and DR risk (OR = 1.12; CI = 0.96-1.31; and p = 0.1359) for genotypic analysis by the dominant model (II vs. ID+DD). Moreover, we also observed no significant association between the D allele on the allele frequency analysis (I vs. D) and the DR risk (OR = 1.10; CI = 0.98-1.23; and p = 0.1182). Forest plot analysis revealed that the discrepancy between previous studies most likely arose from variations in their sample sizes. In conclusion, I/D polymorphism appears to be not involved in the susceptibility to and progression of the DR in type 2 diabetic patients.

The role of angiotensin I-converting enzyme gene polymorphism and global DNA methylation in the negative associations between urine di-(2-ethylhexyl) phthalate metabolites and serum adiponectin in a young Taiwanese population

BackgroundAdiponectin is a key protein produced in adipose tissue, with crucial involvement in multiple metabolic processes. Di-(2-ethylhexyl) phthalate (DEHP), one of the phthalate compounds used as a plasticizer, has been shown to decrease adiponectin levels in vitro and in vivo studies. However, the role of angiotensin I-converting enzyme (ACE) gene polymorphism and epigenetic changes in the relationship between DEHP exposure and adiponectin levels is not well understood.MethodsThis study examined the correlation between urine levels of DEHP metabolite, epigenetic marker 5mdC/dG, ACE gene phenotypes, and adiponectin levels in a sample of 699 individuals aged 12–30 from Taiwan.ResultsResults showed a positive relationship between mono-2-ethylhexyl phthalate (MEHP) and 5mdC/dG, and a negative association between both MEHP and 5mdC/dG with adiponectin. The study found that the inverse relationship between MEHP and adiponectin was stronger when levels of 5mdC/dG were above the median. This was supported by differential unstandardized regression coefficients (− 0.095 vs. − 0.049, P value for interaction = 0.038)). Subgroup analysis also showed a negative correlation between MEHP and adiponectin in individuals with the I/I ACE genotype, but not in those with other genotypes, although the P value for interaction was borderline significant (0.06). The structural equation model analysis indicated that MEHP has a direct inverse effect on adiponectin and an indirect effect via 5mdC/dG.ConclusionsIn this young Taiwanese population, our findings suggest that urine MEHP levels are negatively correlated with serum adiponectin levels, and epigenetic modifications may play a role in this association. Further study is needed to validate these results and determine causality.

COVID-19를 주제로 한 고등학생 대상 ICT 활용 생물정보학 프로그램 개발 및 적용

Objectives The purpose of this study is to analyze the effect of the students' knowledge and information processing capabilities and scientific interest by developing and applying ICT (Information & Communication Technology) bioinformatics program for high school students under the theme of COVID-19.
 Methods The 15th class program consisted of 5 topics was developed based on the appropriate teaching and learning types using ICT. The completed program was received internal validity from seven incumbent science teachers with more than eight years of educational experience. The developed program was applied to six first-year students in a special winter vacation class at G High School in G City in January 2022. In order to confirm the effect of the program, pre-post-test and semi-structural interviews were conducted on knowledge information processing capabilities and scientific interest. The pre-post test results were analyzed using the Wilcoxon signed rank test method. And the interview contents were transcribed and classified by sub-factors of knowledge information processing capacity and scientific interest to derive meaning.
 Results The program consists of the experiments of ACE(angiotensin I converting enzyme) gene which is the homolog of the coronavirus receptor, ACE2 (angiotensin converting enzyme 2), and COVID-19 vaccine and medicine card news production, bioinformatics card news production, and ACE and coronavirus gene analysis using NCBI (National Center for Biotechnology Information). As a result of conducting a pre-post test of knowledge information processing capability and scientific interest, it was confirmed that the pre-post difference was statistically significant (p<.05). As a result of the pre-post inspection by sub-factor of knowledge information processing capability, the average of the sub-factor ‘information analysis’ is the most improved. In addition, as a result of the pre-post-test for each sub-factor of scientific interest, the average of the sub-factors ‘interest and enjoyment in science’ was improved the most. As a result of the interview, it was confirmed that students showed a positive effect on improving their ability to produce various outputs and internal interest in science through the ICT-based bioinformatics program under the theme of COVID-19.
 Conclusions This study is consisted of classes applicable to the general high school level and can be provided as various forms of basic teaching-learning guidance in classes related to bioinformatics, and is expected to be referred to in future bioinformatics-related educational research. In addition, it can be used as basic data for ICT utilization classes suitable for the digital age in science subjects.

Angiotensin-converting enzymes as druggable features of psychiatric and neurodegenerative disorders.

The renin-angiotensin system (RAS) plays essential roles in maintaining peripheral cardiovascular homeostasis, with its potential roles in the brain only being recognized more recently. Angiotensin-I-converting enzyme (ACE) is the main component of the RAS, and it has been implicated in various disorders of the brain. ACE and other RAS components, including the related enzyme ACE2, angiotensin peptides and their respective receptors, can participate in the pathological state, as well as with potential to contribute to neuroprotection and/or to complement existing treatments for psychiatric illness. In this narrative review, we aimed to identify the main studies describing the functions of the RAS and ACEs in the brain and their association with brain disorders. These include neurodegenerative disorders such as Parkinson's and Alzheimer's diseases, psychiatric illnesses such as schizophrenia, bipolar disorder, and depression. We also discuss the possible association of a functional polymorphism of the ACE gene with these brain diseases and the relevance of the neuroprotective and anti-inflammatory properties of ACE inhibitors (ACEis) and angiotensin receptor blockers (ARBs). Based on this, we conclude that there is significant potential value to the inclusion of ACEis and/or ARBs as a novel integrated approach for the treatment of various disorders of the brain, and particularly for psychiatric illness.

Association between angiotensin I converting enzyme gene polymorphisms and risk of autism in Iranian population

BackgroundAutism spectrum disorder (ASD) encompasses a group of neurodevelopmental disorders that are described by substantial complications in social, interactive, and behavioral functions. MethodsIn the current study, we have used a candidate gene approach for appraisal of association between polymorphisms within angiotensin I converting enzyme (ACE) gene and risk of ASD. Tetra-primer amplification-refractory mutation system (ARMS)-PCR method was used for identification of rs4359 genotypes. The rs1799752 (I/D) genotypes were defined using two rounds of PCR and electrophoresis. ResultsThe differences in allele distribution of both rs4359 and rs1799752 in the ASD patients versus controls was significant (P = 0.016 and P = 0.0004 by Pearson chi-square test from 2 × 2 contingency tables for allele distribution of rs4359 (T vs. C) and rs1799752 (D vs. I), respectively). The differences in allele distribution was also calculated at gender level between ASD patients and controls by chi-square test. There was no significant difference between female patients and female controls for rs4359 alleles (P = 0.07); moreover, the comparison of allele distribution for rs4359 was not significant for male patients compared with male controls (P = 0.145). The rs4359 was associated with risk of ASD in co-dominant model (TT vs. CC: OR (95% CI) = 1.239 (1.051–1.46), P value = 0.01; TC vs. CC: OR (95% CI) = 1.337 (1.076–1.661), P value = 0.0009). This SNP was associated with ASD in dominant model as well (TT + TC vs. CC: OR (95% CI) = 1.571 (1.154–2.14), P value = 0.004). Moreover, rs1799752 was associated with ASD in all assessed inheritance models (P values = 1.9E-28, 0.000005, 4.6E-18, 1.6E-8 and 3.2E-34 for co-dominant (II vs. DD), co-dominant (ID vs. DD), dominant, recessive and over-dominant models. ConclusionCumulatively, ACE gene might be regarded as a risk locus for ASD in Iranian population.

Association of the angiotensin I converting enzyme (ACE) gene polymorphisms with recurrent aphthous stomatitis in the Czech population: case\u2013control study

BackgroundRecurrent aphthous stomatitis (RAS) is multifactorial disease with unclear etiopathogenesis. The aim of this study was to determine distribution of the angiotensin I converting enzyme (ACE) gene polymorphisms and their influence on RAS susceptibility in Czech population.MethodsThe study included 230 subjects (143 healthy controls and 87 patients with RAS) with anamnestic, clinical and laboratory data. Five ACE gene polymorphisms (rs4291/rs4305/rs4311/rs4331/rs1799752 = ACE I/D) were determined by TaqMan technique.ResultsThe allele and genotype distributions of the studied ACE I/D polymorphisms were not significantly different between subjects with/without RAS (Pcorr > 0.05). However, carriers of II genotype were less frequent in the RAS group (OR = 0.48, 95% CI = 0.21–1.12, P = 0.059). Stratified analysis by sex demonstrated lower frequency of II genotype in women (OR = 0.33, 95% CI = 0.09–1.17, P < 0.035, Pcorr > 0.05, respectively) than in men with RAS (P > 0.05). Moreover, the frequency of AGTGD haplotype was significantly increased in RAS patients (OR = 13.74, 95% CI = 1.70–110.79, P = 0.0012, Pcorr < 0.05). In subanalysis, TGD haplotype was significantly more frequent in RAS patients (P < 0.00001) and CGI haplotype was less frequent in RAS patients (P < 0.01), especially in women (P = 0.016, Pcorr > 0.05).ConclusionsOur study indicates that while the AGTGD and TGD haplotypes are associated with increased risk of RAS development, CGI haplotype might be one of protective factors against RAS susceptibility in Czech population.

Is Angiotensin Converting Enzyme Insertion/Deletion (rs1799752) Polymorphism Associated with Breast Cancer Risk in Egyptian Population?

Background: According to GLOBOCAN estimates, breast cancer was found to be the most often diagnosed cancer in women worldwide, (11.7 %) and the fourth leading cause of cancer mortality (6.9 %).&#x0D; Aim: The purpose of this study is to investigate the role of the Angiotensin I-converting enzyme (ACE) gene polymorphism in breast cancer prediction risk in Egyptian population.&#x0D; Methods: Polymorphism detection analysis was performed on 163 subjects from breast cancer (BC) patients, 79 with Benign Breast Disease group (BBD) patients and 202 controls (C). ACE I/D (rs1799752) polymorphism were detected using polymerase chain reaction (PCR).&#x0D; Results: The observed genotype frequencies were II 10.9%, ID 78.2% and DD 10.9% in healthy control, II 8.6%, ID 79.1% and DD 12.3% in BC patients and II 12.6%, ID 78.4% and DD 9% in BBD patients. There were no association between ACE gene polymorphisms, between the BC or BBD groups when compared to the control group (ORDD= 1.43, 95 % CI= (0.58-3.52), P= 0.29) and (ORDD= 1.29, 95 % CI= (0.57-2.95), P= 0.37) respectively. There was no risk estimate in BC or BBD when DD vs II + ID (Recessive) or ID vs II+ DD (Over-dominant) were compared to control. Allele frequencies show the same figure. From the different histological BC hormonal markers the Her2 was showing significant association in ID genotype of ACE I/D (rs1799752) (P= 0.04) and dominant model (II vs ID + DD, P= 0.03). Concerning different BC prognostic models, the poor prognostic one of Her2 enriched model (ER-ve PR-ve Her2+ve) show significant association in ACE genotype ID and dominant model (II vs ID + DD), (P= 0.01) when compared to the good prognostic hormonal status.&#x0D; Conclusion: It seems that this is the first study that interested in correlate the ACE gene polymorphisms in different BC variants characters in Egyptian patients. ACE I/D (rs1799752) polymorphism ID genotype have strong association to breast cancer carcinogenesis, poor prognosis and metastasis. It may be used as practical biomarker to guide the BC carcinogenesis and risk process.

Clinical Implications of MiR128, Angiotensin I Converting Enzyme and Vascular Endothelial Growth Factor Gene Abnormalities and Their Association with T2D.

Type 2 DM (T2D) results from the interaction of the genetic and environmental risk factors. Vascular endothelial growth factor (VEGF), angiotensin I-converting enzyme (ACE), and MicroRNAs (MiRNAs) are involved in important physiological processes. Gene variations in VEGF, ACE and MiRNA genes are associated with diseases. In this study we investigated the associations of the VEGF-2578 C/A (rs699947), VEGF-2549 insertion/deletion (I/D), and ACE I/D rs4646994 and Mir128a (rs11888095) gene variations with T2D using the amplification refractory mutation system PCR (ARMS-PCR) and mutation specific PCR (MSP). We screened 122 T2D cases and 126 healthy controls (HCs) for the rs699947, and 133 T2D cases and 133 HCs for the VEGF I/D polymorphism. For the ACE I/D we screened 152 cases and 150 HCs, and we screened 129 cases and 112 HCs for the Mir128a (rs11888095). The results showed that the CA genotype of the VEGF rs699947 and D allele of the VEGF I/D polymorphisms were associated with T2D with OR =2.01, p-value = 0.011, and OR = 2.42, p-value = 0.010, respectively. The result indicated the D allele of the ACE ID was protective against T2D with OR = 0.10, p-value = 0.0001, whereas the TC genotype and the T allele of the Mir128a (rs11888095) were associated with increased risk to T2D with OR = 3.16, p-value = 0.0001, and OR = 1.68, p-value = 0.01, respectively. We conclude that the VEGF (rs699947), VEGF I/D and Mir128a (rs11888095) are potential risk loci for T2D, and that the D allele of the ACE ID polymorphism may be protective against T2D. These results help in identification and stratification for the individuals that at risk for T2D. However, future well-designed studies in different populations and with larger sample sizes are required. Moreover, studies to examine the effects of these polymorphisms on VEGF and ACE proteins are recommended.

Effect of Angiotensin-I Converting Enzyme Gene Insertion/Deletion Polymorphism on genome instability in children living in Russian Arctic.

Main risks of arterial hypertension manifest in childhood. Children living in the Far North are especially susceptible to this. There is a need for an inexpensive, non-invasive and simple diagnosis of the risk of childhood pathologies. It was previously found that the genotype DD of the in/del polymorphic marker of the ACE gene is found in people at risk of developing cardiovascular pathologies. Buccal micronucleus cytome assay and genetic analysis were used in the work. In total, 77 schoolchildren from the city of Apatity, aged 15-17 years old, were examined. We have shown that carriers of the D allele have a tendency to an increase in the frequency of cells with micronuclei. In the case of homozygous I/I variant, the frequency of occurrence of cells with karyopycnosis is significantly higher than in carriers of allele D. Polymorphic marker in/del of the ACE gene is associated with apoptotic changes in the cells of the studied children. The in/del polymorphic marker of the ACE gene can be used as a prognostic marker of the processes of genome destabilization at the early stages of development of the human body.

Clinical Study of the Impact of ACE I/D Gene Variation on the Clinical Parameters of Patients with Polycystic Ovary Syndrome

To investigate the relationship between angiotensin Ⅰ-converting enzyme (ACE) insertion/deletion (I/D) gene polymorphism and the genetic risks for polycystic ovary syndrome (PCOS) and to evaluate the impact of ACE I/D genotypes on clinical, hormonal, metabolic and oxidative stress parameters in patients with PCOS. This was a retrospective case-control study involving a total of 1 020 PCOS patients and 825 female controls who visited the outpatient clinic of the Department of Reproductive Endocrinology, West China Second Hospital of Sichuan University between 2006 and 2019. The ages of the subjects ranged between 17 and 44. The ACE I/D genotypes were determined by polymerase chain reaction (PCR) and gel electrophoresis. 667 PCOS patients and 527 controls were selected for an analysis of their genotypes and the hormonal, metabolic and oxidative stress parameters. The genotype distributions of the ACE I/D single nucleotide polymorphism was in Hardy-Weinberg equilibrium in both the PCOS group and the control group (all P>0.05), which was representative of the population. There were no statistically significant differences in genotype and allele frequencies between the PCOS and the control groups ( P>0.05). After adjusting for both age and body mass index (BMI), there was no statistically significant difference in clinical characteristics among all genotypes in either the PCOS group or the control group. In the PCOS group, compared with the II genotype subgroup, the ID genotype subgroup had lower luteinizing hormone (LH)/follicle-stimulating hormone (FSH) ratio, while the DD genotype subgroup had higher homeostatic model assessment of insulin resistance (HOMA-IR) and malondialdehyde (MDA) levels. Compared with the ID genotype subgroup, the DD genotype subgroup had lower serum sex hormone binding globulin (SHBG) level, but higher total cholesterol (TC) and low-density lipoprotein cholesterol (LDL-C) levels ( P<0.05). In the control group, II genotype subgroup had a higher level of total oxidant status (TOS) than that of the DD genotype subgroup. ACE I/D genetic polymorphism is not associated with risks for PCOS. The I/D variation of ACE gene may be related to insulin resistance, dyslipidaemia, hyperandrogenemia and oxidative stress in PCOS patients.

Length Polymorphisms in the Angiotensin I-Converting Enzyme Gene and the Serotonin-Transporter-Linked Polymorphic Region Constitute a Risk Haplotype for Depression in Patients with Coronary Artery Disease

Genetic variations affecting the course of depressive symptoms in patients with coronary artery disease (CAD) have not yet been well studied. Therefore, we set out to investigate whether distinct haplotypes of the two insertion/deletion polymorphisms in the serotonin-transporter-linked polymorphic region (5-HTTLPR) and the angiotensin I-converting enzyme (ACE) gene located on chromosome 17 can be identified as risk factors for trajectories of depression. Clinical and genotyping data were derived from 507 depressed CAD patients participating in the randomized, controlled, multicenter Stepwise Psychotherapy Intervention for Reducing Risk in Coronary Artery Disease (SPIRR-CAD) trial, of whom the majority had an acute cardiac event before study inclusion. Depression scores on the Hospital Anxiety and Depression Scale (HADS) were assessed at baseline and at five follow-up time points up to 2 years after study entrance. At baseline, depression scores did not significantly differ between patients carrying the risk haplotype ACE D/D, 5-HTTLPR I/I (n = 46) and the non-risk haplotypes (n = 461, 10.9 ± 2.7 versus 10.4 ± 2.5, p = 0.254). HADS-depression scores declined from study inclusion during the first year irrespective of the genotype. At each follow-up time point, HADS-depression scores were significantly higher in ACE D/D, 5-HTTLPR I/I carriers than in their counterparts. Two years after study inclusion, the mean HADS depression score remained 1.8 points higher in patients with the risk haplotype as compared to subjects not carrying this haplotype (9.9 ± 4.2 versus 8.1 ± 4.0, p = 0.009). In summary, the presence of the ACE D/D, 5-HTTLPR I/I haplotype may be a vulnerability factor for comorbid depressive symptoms in CAD patients.

Association of Angiotensin I Converting Enzyme Insertion/287 bp Deletion Polymorphisms and Proliferative Prostatic Diseases among Lebanese Men.

Background Angiotensin I converting enzyme (ACE) insertion (I) and 287 bp Alu repeat DNA fragment deletion (D) polymorphisms have been indicated in various cancers. Here, we investigated I/D polymorphisms in prostate cancer (PCa) and benign prostate hyperplasia (BPH) among Lebanese men. Methods Blood DNA extracted from 69 control subjects, 69 subjects with clinically confirmed PCa, and 69 subjects with clinical BPH, all the subjects were aged 50 years or older, was subjected to the polymerase chain reaction. The PCR products were resolved in polyacrylamide gels to determine II, ID, and DD genotypes. The odds ratios (OR), 95% confidence intervals (CI), and p values of the allele frequencies and genotype ratios were calculated for establishing possible association of the alleles and/or genotypes and PCa and/or BPH. Results The proportions of II, ID, and DD genotypes were significantly different from Hardy–Weinberg equilibrium for BPH and PCa groups (but not the control group), mostly due to overabundance of the ID genotypes. There was no significant difference in the I and D allele frequencies between the control groups and the affected groups. The ratio of (DD + ID)/II is significantly lower among the control group compared to the BPH group (RR = 8.92, p values of the allele frequencies and genotype ratios were calculated for establishing possible association of the alleles and/or genotypes and PCa and/or BPH. p values of the allele frequencies and genotype ratios were calculated for establishing possible association of the alleles and/or genotypes and PCa and/or BPH. Conclusions Our data indicate that the D allele of the I/D polymorphisms of the ACE gene is associated with increased risk of BPH, and the ID genotype is a risk factor for both BPH and PCa among Lebanese males.

ELİT TÜRK GÜREŞÇİLERİNİN ANJİOTENSİN I-DÖNÜŞTÜRÜCÜ ENZİM GEN POLİMORFİZMİ VE VO2MAX DÜZEYLERİ İLE ATLETİK PERFORMANS ARASINDAKİ İLİŞKİNİN BELİRLENMESİ

The polymorphism of angiotensin I-converting enzyme gene is one of the important genes associated with physical activity, The aim of this study is to determine whether there is a relationship between ACE I/D gene polymorphism and athletic performance and genotype distribution of the ACE gene and maximum oxygen consumption (Vo2max) in the elite Turkish wrestlers. ACE I/D gene polymorphism is investigated in 46 elite Turkish wrestlers and 58 healthy sedentary individuals. Vo2max values in elite wrestlers were measured by a progressive shuttle run test. DNA of elite wrestlers and sedentary individuals was obtained from peripheral blood. The allele frequencies and genotype distribution of ACE I/D gene polymorphism determined by polymerase chain reaction. Allele frequencies and genotype distribution of ACE I/D gene polymorphism in the elite wrestlers and sedentary individuals were compared and no significant difference was found between elite wrestlers and sedentary individuals (P>0.05). There was also no difference between the genotype distribution of the ACE I/D gene polymorphism and Vo2max levels in the elite wrestlers (P>0.05). It was determined that Vo2max showed similar distribution in elite wrestlers with DD, ID and II genotypes. The present study demonstrated that there was no significant relationship between the ACE I/D gene polymorphism and sports performance and genotypes of ACE I/D gene polymorphism and Vo2max in elite Turkish wrestlers.

Influences of angiotensin I-converting enzyme gene insertion/deletion polymorphism on prostate cancer risk in Romania

Influences of angiotensin I-converting enzyme gene insertion/deletion polymorphism on prostate cancer risk in Romania

Associations Between Genetic Polymorphisms in the VEGFA, ACE, and SOD2 Genes and Susceptibility to Diabetic Nephropathy in the Han Chinese.

Objective: To investigate the association between polymorphisms in the rs2010963 and rs69947 loci of the vascular endothelial growth factor A (VEGFA) gene; the rs4646994 locus of the angiotensin I converting enzyme (ACE) gene; and the rs4880 locus of the superoxide dismutase 2 (SOD2) gene with genetic susceptibility to type 2 diabetic nephropathy (T2DN) in the Chinese Han population. Methods: A total of 650 Chinese Han patients with T2DN and 580 non-nephropathy patients with type 2 diabetes were enrolled in this study. Sanger sequencing was used to detect the genotypes of the rs2010963 and rs69947 loci within VEGFA, the rs4646994 locus of for the ACE gene, and the rs4880 locus of the SOD2 gene in all subjects. Enzyme-linked immunosorbent assays were used to detect VEGFA, ACE, and SOD2 levels in serum. Results: The risk of T2DN was significantly increased (odds ratio [OR] = 1.15, confidence interval [95% CI]: 1.03-1.30) in patients with the GC/CC genotypes compared to those with the GG genotype at the rs2010963 locus of the VEGFA gene under the dominant model of inheritance. Similarly, the risk of T2DN was significantly increased (OR = 1.17, 95% CI: 1.05-1.31) in patients with the CA/AA genotypes compared to those with the CC genotype at the rs69947 locus of the VEGFA gene under the dominant model of inheritance. In addition, the risk of T2DN was increased (OR = 1.57, 95% CI: 1.37-1.74) in patients with the AA genotype compared to the CC/CA genotypes under the recessive model of inheritance. The risk of T2DN was also significantly increased (OR = 1.54, 95% CI: 1.24-1.97) in patients with the ID/DD genotypes compared to those with the II genotype at the rs4646994 locus of the ACE gene under the dominant model; and (OR = 1.41, 95% CI: 1.26-1.57) for DD genotype compared to the II/ID genotypes under the recessive model. We also found the risk of T2DN was significantly increased (OR = 1.25, 95% CI: 1.11-1.39) under the dominant model in patients with the TC/CC genotypes compared to the TT genotype, and for the CC genotype (compared to the TT/TC genotype) (OR = 1.45, 95% CI: 1.18-1.66) under the recessive model at the rs4880 locus of the SOD2 gene rs4880. The haplotypes GAC (OR = 1.17, 95% CI: 1.04-1.29), CAT (OR = 1.12, 95% CI: 1.03-1.60), and CAC (OR = 1.13, 95% CI: 1.01-1.24) constructed from VEGFA gene rs2010963 and rs69947 loci, and the SOD2 gene rs4880 locus were associated with a higher risk for T2DN. Finally, we found that VEGFA protein levels from subjects with the rs2010963 GG genotype and the rs69947 CC genotype were higher in both case groups and the control group than in subjects with rs2010963 GA/AA genotypes and rs69947 CA/AA genotypes, respectively (p < 0.05). The ACE protein levels for variants at the rs4646994 locus showed that the case group and control group subjects with the DD genotype had the highest levels, followed by the ID genotype and the II genotype (p < 0.05). Conclusion: Genetic variation in the VEGFA gene at the rs2010963 and rs69947 loci, the ACE gene at the rs4646994 locus, and the SOD2 gene at the rs4880 locus may increase the risk of developing T2DN.

Исследование полиморфизмов плейотропных генов ABCC11 и ACE в популяции абхазов и феномен долгожительства

Изучение наследственных факторов в детерминации долголетия представляется весьма актуальным в связи с ростом средней продолжительности жизни, поиском возможностей продления «здорового» периода в позднем отногенезе. Феномен высокой продолжительности жизни всегда вызывал особый интерес исследователей, а его изучение представляется наиболее перспективным в популяциях с достаточно большой долей долгожителей. С давних времен известны случаи ярко выраженного активного долголетия в регионе Кавказа. У долгожителей Абхазии темпы соматического развития, уровень обменных процессов и меньшая интенсивность возрастной инволюции скелета указывали на относительно «здоровый» тип старения. Среди генетических факторов, которые потенциально могли бы играть важную роль в достижении долголетия, особенно перспективным представляется изучение плейотропных генов, действие которых проявляется во множественных эффектах и обладающих высокой функциональной значимостью. Среди них особый интерес представляют те, которые определяют эффективность функционирования сердечно-сосудистой системы, а также особенности, влияющие на темп созревания и старения организма. К числу таких генов можно отнести ген ангиотензин-превращающего фермента (ACE) и ген множественной лекарственной устойчивости (ABCC11). Целью исследования был поиск закономерностей в характере распределения полиморфных вариантов плеойтропных генов ABCC11 и ACE в популяции абхазов в связи с возрастом обследуемых и наличием долгожителей в выборке. В качестве материала исследования были собраны образцы клеток буккального эпителия от коренных жителей Абхазии, подразделенных на две группы: старшего возраста (75-101 год, 79 человек) и контрольную ( 97 индивидов в возрасте от 16 до 33 лет ). Анализ распределений частот генотипов и аллелей полиморфизма 538G&gt;A (rs17822931) гена ABCC11 показал, что группы старшего возраста и контроля очень сходны между собой и достоверные различия между выборками отсутствуют. Генотипирование по инсерционно-делеционному полиморфизму гена ACE (rs1799752) осуществлялось методом ПЦР-ПДАФ. Для контрольной группы абхазов установлены следующие частоты генотипов: II = 0,186; ID = 0,412; DD = 0,402, частоты аллелей I и D оказались равны 0,392 и 0,608 соответственно. Группа старшего возраста по частотам генотипов существенно не отличалась от контроля, генотипы II/ID/DD были распределены в соотношении 0,088/0,380/0,532, а частоты аллелей I и D оказались равны 0,278 и 0,722 соответственно. В результате исследования выявлено, что частота аллеля делеции по инсерционно-делеционному полиморфизму в гене ACE в старшей возрастной группе абхазов достоверно повышена по сравнению с контрольной группой. The study of the phenomenon of longevity is the most promising in populations with a fairly large proportion of centenarians. Since old times cases of pronounced active longevity have been widely known in the Caucasus region. The complexity of age-related processes of aging assumes the involvement of multiple complex factors that have affect on life expectancy. Therefore the study of the pleiotropic genes with their multiple effects and functions could be helpful in that case. The angiotensin I-converting enzyme (ACE) gene and the multiple drug resistance gene ( ABCC11) are of great interest because of their high importance for essential vital functions. The aim of the study was the search for correlations in the frequencies distribution of polymorphic variants of pleoitropic genes ABCC11 and ACE in the population of Abkhazians with the longevity. The material included the DNA samples from indigenous residents of Abkhazia. They were divided into two groups: older age (N = 79) and control (N = 97). The differences in the frequencies distribution of 538G&gt;A genotypes and alleles of the gene ABCC11 in the older group and control were not significant. ACE gene insertion-deletion polymorphism ( rs1799752) genotyping was performed by PCR-AFLP. The genotype frequencies were : II = 0.186; ID = 0.412; DD = 0.402, allele frequencies I and D were equal to 0.392 and 0.608 for the control group of Abkhazians. The older group did not differ significantly from the control in genotype frequencies, the ratio for II/ID/DD genotypes were as 0.088/0.380/0.532, and the frequencies of alleles I and D corresponded to 0.278 and 0.722. The obtained results revealed that the ACE gene deletion allele frequency was significantly increased in the older group of Abkhazians.