Genetic Polymorphisms and Ischemic Heart Disease

Fedele, Francesco; Pucci, Mariateresa; Severino, Paolo

doi:10.5772/intechopen.69621

Cited by 5 publications

(10 citation statements)

References 80 publications

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“…Distribution of AT1 receptors were mostly in smooth muscle, and tunica adventitia of arteries. If CSFP disturbance is suspected to occur at the level of capillaries that are only covered by the endothelium, there is no role of AT2 through type-1 [30], [31], [32] receptors. The study of Ghanie et al also supports this (homocysteine and adiponectin) in both CSFP and NSF patients, so the possible cause is not in the presence of endothelial dysfunction [3].…”

Section: Discussionmentioning

confidence: 99%

“…Further analysis showed that there was a significant relationship between the polymorphism of the AT1R A1166C gene with the dimensions of left ventricular (LV) end-diastole and LV end-systole and LV ejection fraction. [20] Based on these studies, the influence of genetic factors did not stand on CSFP or cardiovascular events, but other factors contributed to the CSFP incident [30], [31], [32].…”

Section: Discussionmentioning

confidence: 99%

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The Role of AT1R A1166C Gene Polymorphism in Coronary Slow Flow Phenomenon of Undergoing Coronary Angiography Patients

Indrajaya

Saleh

Alpian

2020

Open Access Maced J Med Sci

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BACKGROUND: The presence of gene polymorphisms in the renin-angiotensin-aldosterone system associated with an impaired endothelial function that causes atherosclerosis and also myocardial fibrosis such as the polymorphism of the angiotensin-converting enzyme gene and the angiotensin I receptor (AT1R) gene. AIM: This research was aimed to explore the role of AT1R A1166C gene polymorphism in the incidence of coronary slow flow phenomenon (CSFP) in the Malay population, South Sumatra, Indonesia. METHODS: This study is a comparative analysis using a case-control study design to analyze the effect of the AT1R A1166C gene polymorphism on the incidence of slow flow phenomenon in patients undergoing elective coronary angiography at Mohammad Hoesin Hospital Palembang, Indonesia. Examination of AT1R gene polymorphism was carried out with several steps starting from deoxyribonucleic acid extraction, polymerase chain reaction process, followed by restriction fragment length polymorphism stages with Ddel restriction enzymes and visualization. RESULTS: Thirty-two patients participated in these study-baseline characteristics between homogeneous coronary regular flow groups and homogeneous coronary slow flow groups. There is no difference between genotype distribution, allele frequency, and genotype between the CSFP and the coronary standard flow group. CONCLUSION: There is no influence of AT1R A1166C gene polymorphism on the CSFP in patients undergoing coronary angiography.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

The Role of AT1R A1166C Gene Polymorphism in Coronary Slow Flow Phenomenon of Undergoing Coronary Angiography Patients

Indrajaya

Saleh

Alpian

2020

Open Access Maced J Med Sci

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“…Some studies have shown that the pathophysiological mechanism of CAD is much more complex and, beyond the presence of epicardial atherosclerotic plaques, coronary microcirculation is crucial in the genesis of CAD [ 8 , 9 ].…”

Section: Introductionmentioning

confidence: 99%

“…Atherosclerotic CAD comprises a wide range of clinical features that include asymptomatic subclinical atherosclerosis and its complications such as angina pectoris (PA), acute myocardial infarction (MI) and sudden cardiac death (SCD) [ 6 ]. The etiology of CAD is extremely heterogeneous and, although cases of atherosclerotic CAD with monogenic etiology are described, CAD is considered to have a complex multifactorial etiology, being the consequence of the interaction between genetic factors and many environmental factors (diet, physical activity, smoking, other comorbidities) [ 9 , 10 , 11 ].…”

Section: Introductionmentioning

confidence: 99%

Etiologic Puzzle of Coronary Artery Disease: How Important Is Genetic Component?

Butnariu

Florea

Bădescu

et al. 2022

Life

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In the modern era, coronary artery disease (CAD) has become the most common form of heart disease and, due to the severity of its clinical manifestations and its acute complications, is a major cause of morbidity and mortality worldwide. The phenotypic variability of CAD is correlated with the complex etiology, multifactorial (caused by the interaction of genetic and environmental factors) but also monogenic. The purpose of this review is to present the genetic factors involved in the etiology of CAD and their relationship to the pathogenic mechanisms of the disease. Method: we analyzed data from the literature, starting with candidate gene-based association studies, then continuing with extensive association studies such as Genome-Wide Association Studies (GWAS) and Whole Exome Sequencing (WES). The results of these studies revealed that the number of genetic factors involved in CAD etiology is impressive. The identification of new genetic factors through GWASs offers new perspectives on understanding the complex pathophysiological mechanisms that determine CAD. In conclusion, deciphering the genetic architecture of CAD by extended genomic analysis (GWAS/WES) will establish new therapeutic targets and lead to the development of new treatments. The identification of individuals at high risk for CAD using polygenic risk scores (PRS) will allow early prophylactic measures and personalized therapy to improve their prognosis.

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“…Evidence points towards coronary and retinal vessels experiencing similar pathophysiological changes at even early CAD stages [6][7][8] , plausibly influenced by a shared genetic basis 7,[9][10][11][12][13][14] . Population-based studies have demonstrated that both tortuosity and width of arteries and veins have a moderate genetic basis 12,13 .…”

Section: Introductionmentioning

confidence: 99%

Decreased retinal vascular complexity is an early biomarker of MI supported by a shared genetic control

Velasco

Engelmann

Rawlik

et al. 2021

Preprint

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There is increasing evidence that the complexity of the retinal vasculature (measured as fractal dimension, Df) might offer earlier insights into the progression of coronary artery disease (CAD) before traditional biomarkers can be detected. This association could be partly explained by a common genetic basis; however, the genetic component of Df is poorly understood. We present here a genome-wide association study (GWAS) aimed to elucidate the genetic component of Df and to analyse its relationship with CAD. To this end, we obtained Df from retinal fundus images and genotyping information from ∼38,000 white-British participants in the UK Biobank. We discovered 9 loci associated with Df, previously reported in pigmentation, retinal width and tortuosity, hypertension, and CAD studies. Significant negative genetic correlation estimates endorse the inverse relationship between Df and CAD, and between Df and myocardial infarction (MI), one of CAD fatal outcomes. This strong association motivated us to developing a MI predictive model combining clinical information, Df, a CAD polygenic risk score and using a random forest algorithm. Internal cross validation evidenced a considerable improvement in the area under the curve (AUC) of our predictive model (AUC=0.770) when comparing with an established risk model, SCORE, (AUC=0.719). Our findings shed new light on the genetic basis of Df, unveiling a common control with CAD, and highlights the benefits of its application in individualised MI risk prediction.

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Genetic Polymorphisms and Ischemic Heart Disease

Cited by 5 publications

References 80 publications

The Role of AT1R A1166C Gene Polymorphism in Coronary Slow Flow Phenomenon of Undergoing Coronary Angiography Patients

The Role of AT1R A1166C Gene Polymorphism in Coronary Slow Flow Phenomenon of Undergoing Coronary Angiography Patients

Etiologic Puzzle of Coronary Artery Disease: How Important Is Genetic Component?

Decreased retinal vascular complexity is an early biomarker of MI supported by a shared genetic control

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