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.

scholarly journals Genetic and epigenetic associations of ANRIL with coronary artery disease and risk factors

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Bayi Xu ◽  
Zhixia Xu ◽  
Yequn Chen ◽  
Nan Lu ◽  
Zhouwu Shu ◽  
...  
Keyword(s):  
Blood Pressure ◽  
Coronary Artery Disease ◽  
Dna Methylation ◽  
Coronary Artery ◽  
Gene Dosage ◽  
Density Lipoprotein ◽  
Nucleotide Polymorphisms ◽  
Coronary Syndrome ◽  
Non Coding Rna ◽  
Artery Disease

Abstract Background Both DNA genotype and methylation of antisense non-coding RNA in the INK4 locus (ANRIL) have been robustly associated with coronary artery disease (CAD), but the interdependent mechanisms of genotype and methylation remain unclear. Methods Eighteen tag single nucleotide polymorphisms (SNPs) of ANRIL were genotyped in a matched case–control study (cases 503 and controls 503). DNA methylation of ANRIL and the INK4/ARF locus (p14ARF, p15INK4b and p16INK4a) was measured using pyrosequencing in the same set of samples (cases 100 and controls 100). Results Polymorphisms of ANRIL (rs1004638, rs1333048 and rs1333050) were significantly associated with CAD (p < 0.05). The incidence of CAD, multi-vessel disease, and modified Gensini scores demonstrated a strong, direct association with ANRIL gene dosage (p < 0.05). There was no significant association between ANRIL polymorphisms and myocardial infarction/acute coronary syndrome (MI/ACS) (p > 0.05). Methylation levels of ANRIL were similar between the two studied groups (p > 0.05), but were different in the rs1004638 genotype, with AA and AT genotype having a higher level of ANRIL methylation (pos4, p = 0.006; pos8, p = 0.019). Further Spearman analyses indicated that methylation levels of ANRIL were positively associated with systolic blood pressure (pos6, r = 0.248, p = 0.013), diastolic blood pressure (pos3, r = 0.213, p = 0.034; pos6, r = 0.220, p = 0.028), and triglyceride (pos4, r = 0.253, p = 0.013), and negatively associated with high-density lipoprotein cholesterol (pos2, r = − 0.243, p = 0.017). Additionally, we identified 12 transcription factor binding sites (TFBS) within the methylated ANRIL region, and functional annotation indicated these TFBS were associated with basal transcription. Methylation at the INK4/ARF locus was not associated with ANRIL genotype. Conclusions These results indicate that ANRIL genotype (tag SNPs rs1004638, rs1333048 and rs1333050) mainly affects coronary atherosclerosis, but not MI/ACS. There may be allele-related DNA methylation and allele-related binding of transcription factors within the ANRIL promoter.

scholarly journals The lower the better? Optimal achieved blood pressure for patients with coronary artery disease undergoing percutaneous coronary interventions and kidney failure

2020 ◽  
Vol 41 (Supplement_2) ◽  
Author(s):  
Y Yang ◽  
H.B Leu
Keyword(s):  
Blood Pressure ◽  
Coronary Artery Disease ◽  
Coronary Artery ◽  
Kidney Failure ◽  
Cardiovascular Events ◽  
Chinese Patients ◽  
Percutaneous Coronary Interventions ◽  
Coronary Interventions ◽  
Percutaneous Coronary ◽  
Artery Disease

Abstract Background This study investigates the ideal achieved blood pressure (BP) in ethnic Chinese patients with coronary disease (CAD) and kidney failure (eGFR&lt;15 ml/min/1.73m2). Methods A total of 575 kidney failure patients who had undergone percutaneous coronary interventions (PCI) were enrolled and divided into 6 to 4 groups according to blood pressure range were analyzed. The clinic outcomes included major cardiovascular events (MACE) and MACE plus hospitalization for congestive heart failure (Total CV event). Results The mean systolic BP was 135.02±24.73 mmHg and diastolic BP was 70.74±13.05 mmHg. Systolic BP 140–149mmHg and diastolic BP 80–89mmHg had lowest MACE/CV event incidence rate (11%/23%; 13.2%/21.1%) compare to other groups. Patients with systolic BP&lt;120mmHg had a higher risk MACE (HR: 2.014; 95% CI: 1.172–3.462, p=0.008) when compared to those with systolic BP 140–149 mmHg. Patients with systolic BP≥160mmHg (HR: 1.838; 95% CI, 3.266–1.035, p=0.038). And diastolic blood BP ≥90mmHg (HR: 2.191; 95% CI: 1.147–4.188, p=0.018) had a higher risk of total cardiovascular events when compared to those with systolic BP 140–149 mmHg and diastolic BP 80–89 mmHg. Conclusions A J-shaped BP association of systolic (140–149 mmHg) and diastolic (80–89 mmHg) was found with decreased cardiovascular events for coronary artery disease with kidney failure after undergoing PCI in non-western population. Funding Acknowledgement Type of funding source: None

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 Determination of Patient Characteristics and Role of Physician Intervention for Uncontrolled Hypertension: A Risk for Coronary Artery Disease

2021 ◽  
pp. 173-181
Author(s):  
Waseem Raja Memon ◽  
Shahzad Memon ◽  
Dayaram Makwana ◽  
Abdul Rashid ◽  
Beenish Ghafar Memon ◽  
...  
Keyword(s):  
Blood Pressure ◽  
Coronary Artery Disease ◽  
Coronary Artery ◽  
Uncontrolled Hypertension ◽  
Control Group ◽  
Standard Group ◽  
Physician Intervention ◽  
Mortality Ratio ◽  
Artery Disease

Objective: Our research was designed to evaluate the association of uncontrolled hypertension with coronary artery disease and analyze the role of intervention in preventing CAD mortality ratio. Methodology: This case controlled single-center study was conducted in department of Medicine, Peoples University of Medical and Health Sciences Nawabshah Pakistan from January 2020 to September 2021. In this study, BP screening was done among the adult population aged 50 years or over. All the recruited patients of coronary artery disease were divided into two main groups for a clinical trial; case (identified cases of uncontrolled hypertension) and the control group (without history of cardiovascular disorders and used medication for hypertension). For evaluating physician intervention, both groups were divided into two main groups for treatments; the standard Bp control (having <140 mm Hg SBP level) and the intensive blood pressure control (whose SPB <120 mm Hg). we used BP-lowering medication which adjusted the systolic blood pressure around 135–139 mm Hg in the standard group and less than 120 in intensive group. Results: Overall the female prevalence was comparatively high (63.2%) than males (37%). No significant differences were found in the baseline characteristics of participants.  In 42% of cases, we found coronary artery calcification. Univariate logistic analysis of our study demonstrates the association of CAD with age, smoking, and BMI. We also found a positive association of CAD with higher CRP, and uncontrolled hypertension. Conclusion: Our study observed a significant association between uncontrolled hypertension and coronary artery disease. The results of our study concluded that interventions in terms of BP control might be affected due to pre-existing cardiovascular diseases. However, intensive BP treatment would help to reduce the mortality ratio of CAD patients.

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.

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