ace gene
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2022 ◽  
Vol 20 (2) ◽  
pp. 403-409
Author(s):  
Tarek A. Abdelaziz ◽  
Randa H. Mohamed ◽  
Gehan F. Balata ◽  
Omar Y. El-Azzazy

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. 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 Genomic DNA was withdrawn from EDTA whole blood applying a spin column approach and ACE gene insertion/deletion (I/D) polymorphisms were determined by polymerase chain reaction (PCR). 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). Conclusion: It is beneficial to implement ACEI in therapeutic regimen in individuals with ID or II genotypes of ACE gene, especially with BMS implementation.


2021 ◽  
Author(s):  
A.V. Lemeshchenko ◽  
A.E. Kim

The results of content analysis of the role of polymorphism of the ACE gene genotype (RS4646994) in persons employed in the Arctic region are presented. It has been shown that it can be recommended as a universal marker in the diagnosis of not only essential hypertension, but other diseases of the cardiovascular system. In order to reduce the risk of developing pathological conditions, when planning official activities in the Arctic region, it is advisable to build professional selection, taking into account not only their genetic predisposition, but also the body's ability to maintain homeostasis. Key words: Arctic, polymorphism, ACE gene (RS4646994), arterial hypertension, homeostasis.


2021 ◽  
Author(s):  
Jinsheng Shen ◽  
Xiaofei Mei ◽  
Jialu Yao ◽  
Hezi Jiang ◽  
Kexin Li ◽  
...  

Background: ACE gene polymorphisms have recently been shown to be associated with risk of developing left ventricular hypertrophy (LVH). However, the results were controversial. We aimed to conduct this meta-analysis to further confirm the association between ACE rs4646994 polymorphism and HCM/DCM. Methods: PubMed, EMBASE, the Chinese national knowledge information database, and Wan fang databases were searched for eligible studies. The Newcastle-Ottawa Scale was used to evaluate the quality of included studies. Then we evaluated the association between ACE gene mutation and HCM/DCM by calculating odds ratios and 95% confidence intervals. Subgroup analysis was further performed to explore situations in specialized subjects. Sensitivity analysis and publication bias was assessed to confirm the study reliability. Results: There were 13 studies on DCM (2004 cases and 1376 controls) and 16 studies on HCM (2161 controls and 1192 patients). ACE rs4646994 polymorphism was significantly associated with DCM in all genetic models. However, in HCM, four genetic models (allele model, homozygous model, heterozygous model and dominant model) showed significant association between ACE rs4646994 polymorphism and DCM. In subgroup analysis, we found that ACE rs4646994 polymorphism was significantly associated with DCM / HCM in Asian population. Finally, we also conducted a cumulative meta-analysis, which indicates that the results of our meta-analysis are highly reliable. Conclusion: ACE rs4646994 polymorphism increases the risk of DCM / HCM in Asian, but not in Caucasian. More case-control studies are needed to strengthen our conclusions and to assess the gene-gene and gene-environment interactions between ACE rs4646994 polymorphism and DCM / HCM.


Meta Gene ◽  
2021 ◽  
pp. 100992
Author(s):  
İlhan Kılıç ◽  
Orkide Palabıyık ◽  
Gökay Taylan ◽  
Tammam Sipahi ◽  
Sedat Üstündağ

Background: Sarcoidosis is a multi-systemic granulomatosis of unknown cause, characterized by a clinical polymorphism. It results from interplay of environmental and genetic factors. Objective: The aim of our study was to describe sociodemographic and genetic characteristics in Tunisian patients with sarcoidosis. Methods: We conducted a retrospective study of patients with sarcoidosis followed in the internal medicine and neurology departments at the Military Hospital of Tunis. We collected epidemiological characteristics. Genetic study concerned only patients who accepted to participate. DNA extraction was performed from whole blood. HLA class II typing and gene mutation testing of the ACE gene were also performed. Results: Our study concerned 50 patients. The mediastino-pulmonary involvement was the most frequent (72.3%), followed by neurological involvement (58.5%), cutaneous involvement (50.8%) and ophthalmological involvement (40%). Genetic analysis showed a high frequency of the HLA DRB1 * 1501 allele (38%), DD genotype (30%) and D allele (54%) of the ACE gene. Treatment with corticosteroids was most often used 73.85%. The evolution was favorable in 13 cases (26.15%), and stable in 63% of cases. Conclusion: sociodemographic and genetic characteristic are variable from one ethnic to another. Advances in genotyping and statistical analysis are helping to elucidate the genetics of sarcoidosis.


2021 ◽  
Vol 66 (10) ◽  
pp. 635-640
Author(s):  
Dina Alexandrovna Petrashova ◽  
S. N. Kolomeichuk

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.


2021 ◽  
Vol 42 (Supplement_1) ◽  
Author(s):  
K Kopeva ◽  
S N Shilov ◽  
E V Grakova ◽  
E N Berezikova ◽  
A A Popova ◽  
...  

Abstract Objective To evaluate role of genetic factors (polymorphisms of ADRB1 gene (Arg389Gly, rs1801253) and ACE gene (I/D, rs4343) for effectiveness assessment of β-blocker (carvedilol) and angiotensin-converting enzyme inhibitor (enalapril) therapy in women with anthracycline- induced cardiotoxicity during 12-month follow-up period. Methods A total of 82 women, median age of 45.0 (42.0; 50.0) years with anthracycline-induced cardiotoxicity and without prior cardiovascular diseases were enrolled in the study. All patients received chemotherapy for the treatment of breast cancer included a combination of doxorubicin and cyclophosphamide, or combination of doxorubicin, cyclophosphamide and docetaxel. The cumulative dose of doxorubicin was 300–360 mg/m2. Criteria for the development of cardiotoxicity were a decrease in the left ventricle ejection fraction (LVEF) at the 12 months after chemotherapy completion by >10%, the development of heart failure (HF) with symptoms and clinical signs, and NT-proBNP levels ≥125 pg/mL. Echocardiography and serum levels of NT-proBNP were performed at baseline and at 12 months after enrollment. Average up-titrated dosage of carvedilol was 50 (25; 50) mg per day and enalapril was 10 (10; 20) mg per day. Evaluation of gene polymorphisms of ADRB1 gene and ACE gene were carried out by polymerase chain reaction at baseline before treatment initiation. Results The baseline LVEF, end-systolic and end-diastolic dimension indexes, NT-proBNP levels, 6-minute walk test distance did not differ among patients with different genotypes of ADRB1 and ACE genes. However, carriers of T/T genotype of ADRB1 gene had a significant increasing in LVEF (<0.001) by 11% from 50.0 (48.0; 51.0) to 56.0 (53.0; 57.0)% and decreasing in end-systolic dimension index (p<0.001) by 27.7% and end-systolic dimension index (p<0.001) by 6% within 12 months of follow-up period. The levels of NT-proBNP decreased (p=0.001) by 34.2% from 327.5 (260.1; 381.8) to 213.5 (195.3; 256.7) pg/mL and 6-minute walk test distance increased (0.008) by 10%. Carriers of G/G genotype of ACE gene had the same benefits from this therapy: LVEF (<0.001) increased by 6.5% from 50.5 (47.0; 51.0) to 54.0 (50.0; 57.0)%, end-systolic dimension index (p<0.001) decreased by 5.3% and end-systolic dimension index (p<0.001) by 3% within 12 months of follow-up period. The levels of NT-proBNP decreased (p=0.005) by 20.3 from 314.1 (279.6; 372.9) to 249.9 (197.3; 267.8) pg/mL and 6-minute walk test distance increased (0.008) by 5%. Carriers of other genotypes had decreasing in LVEF, increasing in LV dimensions and NT-proBNP, and further progression of HF. Conclusion Our data suggest that evaluation of gene polymorphisms of ADRB1 (Arg389Gly, rs1801253) and ACE gene (I/D, rs4343) can be recommended before treatment initiation of anthracycline- induced cardiotoxicity in women without prior cardiovascular diseases to determine who will benefit of carvedilol and enalapril therapy. FUNDunding Acknowledgement Type of funding sources: None.


2021 ◽  
Vol 25 (3) ◽  
pp. 112-118
Author(s):  
Teodoro J. Oscanoa ◽  
Xavier Vidal ◽  
Eliecer Coto ◽  
Roman Romero-Ortuno

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