scholarly journals The association of methylene tetrahydrofolate reductase (MTHFR) A1298C gene polymorphism, homocysteine, vitamin B12, and folate with coronary artery disease (CAD) in the north of Iran

2020 ◽  
Vol 0 (0) ◽  
Author(s):  
Saeideh Amani ◽  
Ebrahim Mirzajani ◽  
Seyed Mehrdad Kassaee ◽  
Minoo Mahmoudi ◽  
Fardin Mirbolouk
Keyword(s):  
Coronary Artery Disease ◽  
Gene Polymorphism ◽  
Vitamin B12 ◽  
Control Group ◽  
Mthfr A1298c ◽  
Methylene Tetrahydrofolate Reductase ◽  
North Of Iran ◽  
A1298c Polymorphism ◽  
Methylene Tetrahydrofolate ◽  
Artery Disease

AbstractBackgroundWe pursued to find out the possible association of Methylene tetrahydrofolate reductase (MTHFR) A1298C gene polymorphism, blood homocysteine, vitamin B12, and folate with Coronary artery disease (CAD) in the study population in Guilan, north of Iran.Material and MethodsNinety patients with CAD and 76 healthy controls were evaluated. MTHFR A1298C polymorphism and its genotype frequency, the plasma level of homocysteine, vitamin B12 and folate were evaluated by using ARMS-PCR, ELISA, and Chemiluminescence methods, respectively.ResultsThe frequency of genotypes, A, AC and CC in CAD were 40, 35.6, 24.4%, respectively which was significantly different (p=0.016) from the control group that were 26.3, 57.9 and 15.8%, respectively. The serum level of vitamin B12 and folate in genotype A1298C were not statistically significant between two groups (p>0.05), however, the plasma homocysteine in patients with CAD was remarkably higher than the control group (p<0.001). Additionally, in CAD patients the plasma level of homocysteine in the AC genotype was significantly higher than the control subjects (p=0.005).ConclusionIt is thus concluded that MTHFR A1298C gene polymorphism is associated with CAD. It seems that the AC genotype of MTHFR A1298C polymorphism might have a protective effect on CAD.

NCF4 gene polymorphism, level of glutathione and glycated hemoglobin in type 2 diabetics with coronary artery disease

2021 ◽  
pp. 37-47
Author(s):  
Ю.Э. Азарова
Keyword(s):  
Coronary Artery Disease ◽  
Coronary Artery ◽  
Gene Polymorphism ◽  
Glycated Hemoglobin ◽  
Control Group ◽  
Maldi Tof ◽  
Genotype Frequencies ◽  
Increased Risk ◽  
Artery Disease

Общим патогенетическим звеном сахарного диабета 2 типа (СД2) и ишемической болезни сердца (ИБС) является окислительный стресс, развивающийся в результате дисбаланса продукции активных форм кислорода (АФК) и их обезвреживания системой антиоксидантной защиты. Нейтрофильный цитозольный фактор 4 (NCF4) непосредственно вовлечен в синтез супероксид-аниона в составе НАДФН-оксидазы. Целью настоящего исследования стало изучение ассоциаций восьми однонуклеотидных полиморфизмов гена NCF4 rs5995355 (A>G), rs5995357 (T>A), rs1883112 (G>A), rs4821544 (G>A), rs760519 (T>C), rs729749 (C>T), rs2075938 (G>A) и rs2075939 (C>T) с предрасположенностью к СД2, а также с риском развития ИБС у пациентов с СД2. В исследование включено 1579 пациентов с СД2 (у 448 из которых была также диагностирована ИБС) и 1627 условно здоровых добровольцев. Генотипирование выполнено методом MALDI-TOF масс-спектрометрии на платформе MassArray Analyzer 4. Статистическую обработку полученных данных проводили с помощью онлайн программы SNPStats. Частоты аллелей и генотипов изучаемых SNPs у больных СД2 не отличались от таковых в группе контроля (р>0,05). Установлены ассоциации генотипов rs4821544-C/С (OR 1,71, 95CI 1,12-2,59, р=0,013) и rs5995357-А/А (OR 3,74, 95CI 1,14-12,31, р=0,026) с предрасположенностью к ИБС у больных СД2 женщин. Несмотря на отсутствие ассоциаций изучаемых SNPs гена NCF4 с ИБС у мужчин, именно у представителей мужского пола выявлены ассоциации гаплотипической структуры NCF4 (р=0,0064), а также гаплотипов Н2 (OR 1,79, 95CI 1,16-2,76, р=0,0085) и Н3 (OR 1,77, 95CI 1,06-2,97, р=0,03) с повышенным риском развития ИБС при СД2. Кроме того, выявлены не зависящие от пола ассоциации генотипа rs4821544-С/С с повышенным уровнем гликированного гемоглобина HbA1c (р=0,032) и окисленного глутатиона плазмы крови (p=0.049) у пациентов с ИБС и СД2. В этой же категории больных носительство гаплотипов Н4 rs5995355G-rs5995357A-rs1883112G-rs4821544C-rs760519T-rs729749C-rs2075938G-rs2075939C и Н10 rs5995355A-rs5995357T-rs1883112G-rs4821544C-rs760519T-rs729749C-rs2075938A-rs2075939C гена NCF4 ассоциировалось с повышением содержания HbA1c на 8,67% (р=0,011) и 6,27% (р=0,038), соответственно. Полученные данные свидетельствуют о значимом вкладе полиморфизма гена NCF4 в патогенез ИБС у пациентов с СД2 и создают научный задел для разработки таргетной терапии и профилактики этой патологии. A common pathogenic link in type 2 diabetes mellitus (T2D) and coronary artery disease (CAD) is oxidative stress, which develops as a result of an imbalance in the production of reactive oxygen species (ROS) and their neutralization by the antioxidant defense system. Neutrophilic cytosolic factor 4 (NCF4) is directly involved in the synthesis of superoxide anion as part of NADPH oxidase. In this regard, the purpose of this study was to investigate the associations of eight single nucleotide polymorphisms of the NCF4 gene rs5995355 (A>G), rs5995357 (T>A), rs1883112 (G>A), rs4821544 (G>A), rs760519 (T>C), rs729749 (C>T), rs2075938 (G>A), rs2075939 (C>T) with a predisposition to T2D, as well as the risk of developing CAD in patients with T2D. The study included 1579 patients with T2D (448 of them were also diagnosed with CAD) and 1627 relatively healthy volunteers. Genotyping was performed using MALDI-TOF mass spectrometry on the MassArray Analyzer 4 platform. Statistical processing of the obtained data was carried out using the SNPStats online program. The allele and genotype frequencies of the studied SNPs in T2D patients did not differ from those in the control group (p>0.05). Associations of genotypes rs4821544-C/C (OR 1.71, 95CI 1.12-2.59, p=0.013) and rs5995357-A/A (OR 3.74, 95CI 1.14-12.31, p=0.026) with a predisposition to CAD in diabetic females were established. Despite the absence of associations of the studied SNPs NCF4 with CAD in males, associations of the haplotype structure of NCF4 (p=0.0064), as well as the haplotypes H2 (OR 1.79, 95CI 1.16-2.76, p=0.0085) and H3 (OR 1.77, 95CI 1.06-2.97, p=0.03) with an increased risk of CAD were observed exclusively in diabetic males. In addition, a sex-independent relationship of the rs4821544-C/C genotype with an increased level of glycated hemoglobin (p=0.032) and oxidized glutathione (p=0.049) was revealed in patients with CAD and T2D. In the same category of patients haplotypes H4 rs5995355G-rs5995357A-rs1883112G-rs4821544C-rs760519T-rs729749C-rs2075938G-rs2075939C and H10 rs5995355A-rs5995357T-rs1883112G-rs4821544C-rs760519T-rs729749C-rs2075938A-rs2075939C of NCF4 gene were associated with an increase in the content of HbA1c 8.67 % (p=0.011) and 6.27% (p=0.038), respectively. The data obtained indicate a significant contribution of the NCF4 gene polymorphism to the pathogenesis of CAD in patients with T2D and create a scientific basis for the development of targeted therapy and prevention of this pathology.

scholarly journals NO Level and Endothelial NO Synthase Gene Polymorphism (Glu298Asp) in the Patients with Coronary Artery Disease from the Turkish Population

2004 ◽  
Vol 36 (10) ◽  
pp. 661-666 ◽  
Author(s):  
Lale Afrasyap ◽  
Guler Ozturk
Keyword(s):  
Nitric Oxide ◽  
Coronary Artery Disease ◽  
Coronary Artery ◽  
Gene Polymorphism ◽  
Turkish Population ◽  
Control Group ◽  
Enos Gene ◽  
Nitric Oxide Level ◽  
Significant Difference ◽  
Artery Disease

Abstract Nitric oxide is synthesized from L-arginine by endothelial nitric oxide synthase encoded by eNOS gene. This study was performed to investigate the relationship between the serum nitric oxide level and eNOS gene polymorphism in the Turkish population with angiographically diagnosed coronary artery disease (63.47 ± 9.10 years old, n=250) and control subjects without any history and/or risk factors of coronary artery disease (60.71 ± 9.14 years old, n=150). Griess assay and PCR-RFLP analysis were used to measure the serum nitric oxide metabolites and genotypes, respectively. It was found that Glu/Glu, Glu/Asp and Asp/ Asp genotype frequencies of the eNOS were 49.3%, 41.3% and 9.3% respectively in the control group, and 45.6%, 41.2% and 13.2% in the patient group. Serum nitric oxide levels were (32.56 ± 17.26) μM in controls and (29.84 ± 11.88) μM in patients. Neither the frequencies of the Glu298Asp genotypes nor the serum nitric oxide levels showed a significant difference between the groups. There was also no correlation between serum nitric oxide levels and the frequencies of the eNOS genotypes. Result showed that the coronary artery disease of the Turkish population seemed to develop without any alterations in eNOS Glu298Asp genotype frequency and the serum nitric oxide level.

scholarly journals Coagulation factors II,V and methylene tetrahydrofolate reductase gene polymorphism in patients with diabetic nephropathy: prevalence, clinical and prognostic implications

2010 ◽  
Vol 13 (1) ◽  
pp. 6-9 ◽  
Author(s):  
Olga Filippovna Sibireva ◽  
Ekaterina Yur'evna Khitrinskaya ◽  
Vadim Vital'evich Kalyuzhin ◽  
Aleksey Eduardovich Sazonov ◽  
Igor Ivanovich Ivanchuk ◽  
...  
Keyword(s):  
Diabetic Nephropathy ◽  
Gene Polymorphism ◽  
Methylenetetrahydrofolate Reductase ◽  
Prognostic Significance ◽  
Coagulation Factor ◽  
Control Group ◽  
Factor V ◽  
Methylene Tetrahydrofolate Reductase ◽  
Reductase Gene ◽  
Methylene Tetrahydrofolate

Aim. To study prevalence, clinical and prognostic significance of prothrombotic genotypes pre-dominant in inborn thrombophilia in patients with diabeticnephropathy (DN). Materials and methods. A total of 90 patients with DN were examined; 54 and 36 cases suffered DM1 and DM2 respectively. Control group comprised100 healthy subjects. PCR was used to iden-tify single nucleotide substitution (C677T) in the methylene tetrahydrofolate reductase gene (MTHFR),point mutation in coagulation factor V gene (FV), and G202210A mutation in factor II gene (FII). Results. The probability of DN in patients with DM1 increases in the presence of Leiden mutation and in DM2 patients in the presence of single nucleotidesubstitu-tion (C677T) in MTHFR gene and G202210A mutation in the 3-untranslated region of FII. Conclusion. The prevalence of the above mutations associated with blood coagulation potential in DN patients is higher than in healthy subjects.Key words: diabetes mellitus, diabetic nephropathy, gene polymorphism, methylenetetrahydrofolate reductase

scholarly journals Effects of caspase 8 gene polymorphism on the risks for development/course of chronic heart failure

2015 ◽  
Vol 17 (2) ◽  
pp. 45
Author(s):  
Ye. N. Berezikova ◽  
M. G. Pustovetova ◽  
S. N. Shilov ◽  
A. V. Yefremov ◽  
A. T. Teplyakov ◽  
...  
Keyword(s):  
Heart Failure ◽  
Coronary Artery Disease ◽  
Coronary Artery ◽  
Chronic Heart Failure ◽  
Gene Polymorphism ◽  
Polymorphic Locus ◽  
Control Group ◽  
Caspase 8 ◽  
Polymorphic Loci ◽  
Artery Disease

The aim of the study was to identify genetic determinants of increased risks for heart failure severity. Clinical and genetic aspects of the effects of gene polymorphism caspase 8 (polymorphic loci -652(6N)I/D and D302H) on the risks for development and severity of chronic heart failure (CHF) in patients with coronary artery disease were investigated. 277 patients with CHF were studied (182 males and 95 females aged 45 to 65 years (mean age 59.27.7 years). Genotypes were identified by using RFLP analysis of PCR products. The control group included 136 people (mean age 53.64.8 years) who had no symptoms of cardiovascular disorders. The presence of del allele and genotype del/del polymorphic locus -652(6N)I/D gene caspase 8 was associated with an increased risk for heart failure, while the allele ins and genotype ins/ins were found to serve as protective factors. Allele ins and genotype ins/ins polymorphic locus -652(6N)I/D gene caspase 8 proved to be associated with protective effects on the course of CHF in patients with coronary artery disease, while allele del and genotype del/del could be considered as predictors of an unfavorable course of the disease. The analysis revealed no significant differences in the frequency distribution of genotypes and alleles of polymorphic loci D302H gene caspase 8 in patients with chronic heart failure and in the control group, as well as in the dependence on the functional class of heart failure. The definition of polymorphism -652(6N)I/D gene caspase 8 can be recommended for early prediction of risks and severity of heart failure.

scholarly journals Association of Endothelial Dysfunction with Endothelin, Nitric Oxide and eNOS Glu298Asp Gene Polymorphism in Coronary Artery Disease

2011 ◽  
Vol 31 (4) ◽  
pp. 215-222 ◽  
Author(s):  
Vandana Saini ◽  
M. K. Bhatnagar ◽  
Jayashree Bhattacharjee
Keyword(s):  
Nitric Oxide ◽  
Coronary Artery Disease ◽  
Coronary Artery ◽  
Endothelial Dysfunction ◽  
Gene Polymorphism ◽  
Control Group ◽  
Enos Gene ◽  
The North ◽  
Genotype Frequencies ◽  
Artery Disease

The endothelial dysfunction has been implicated as a major event in the pathogenesis of atherosclerosis. Therefore, this study was planned to determine (a) role of endothelium-derived nitric oxide (NO) and endothelin as coronary artery disease (CAD) risk markers and (b) intergenotypic variation of endothelial nitric oxide synthase (eNOS) Glu298Asp polymorphism in CAD.The endothelin, NO and eNOS genotypes were determined in 60 patients with documented history of CAD. These were compared with 50 age- and sex- matched healthy controls. The genotype frequencies for eNOS gene polymorphism were determined by PCR and RFLP. The plasma endothelin in CAD patients was significantly higher (p< 0.001) whereas, the NO level in CAD group was significantly lower (p< 0.001) than the control group. The genotype frequencies for Glu298/Asp (Glu/Glu and Glu/Asp) genotypes were 75% and 25% in CAD subjects and 88% and 12% in control subjects, respectively. No Asp/Asp was found in any of the groups. The genotype frequencies differed significantly (p< 0.05) between the controls and cases. In conclusion, endothelin and NO may be used as markers of endothelial dysfunction in CAD. Asp allele might be a risk factor for CAD in the North Indian population.

scholarly journals EBF1 gene polymorphism and its interaction with smoking and drinking on the risk of coronary artery disease for Chinese patients

2018 ◽  
Vol 38 (3) ◽  
Author(s):  
Yongjun Ying ◽  
Yuxuan Luo ◽  
Hui Peng
Keyword(s):  
Blood Pressure ◽  
Coronary Artery Disease ◽  
Coronary Artery ◽  
Gene Polymorphism ◽  
Blood Lipid ◽  
Chinese Patients ◽  
Control Group ◽  
Nucleotide Polymorphisms ◽  
Artery Disease ◽  
Early B Cell Factor

Objective: Early B-cell factor 1 (EBF1) is a transcription factor that is expressed in early B-cells, adipocytes, and olfactory neurons, and is essential for the maturation of early B lymphocytes. The present study analyzes the influence of EBF1 gene polymorphism and its interaction with smoking and drinking on the risk of coronary artery disease (CAD). Methods: In the present study, 243 CAD cases were enrolled as the CAD group and 215 non-CAD patients as the control group by case–control study. We analyzed their genotypes of the rs987401919, rs36071027, and rs1056065671 loci of the EBF1 gene by Sanger sequencing and detected their content of HDL-C, LDL-C, and TG. Results: The C allele at the rs987401919 and rs36071027 loci of EBF1 was found to be the risk factor for CAD (Odds ratio, OR = 1.233; 95% confidence interval, CI: 1.039–1.421; P=0.017; OR = 1.487; 95% CI: 1.015–1.823; P=0.042). The interaction between single nucleotide polymorphisms (SNP) of the rs987401919 and rs36071027 loci and smoking and drinking were distinctly associated with the incidence of CAD (P<0.05). The content of systolic blood pressure (SBP), diastolic blood pressure (DBP), HDL-C, LDL-C, and TG was distinctly changed after gene mutation at the rs987401919 and rs36071027 loci (P<0.05). Conclusion: The results of the present study show that the mutation (CT+TT) at the rs987401919 and rs36071027 loci of EBF1 and its interaction with smoking and drinking are risk factors for CAD, and that the mechanism may be related to the changes in blood pressure and blood lipid content.

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