Related Experiment Videos
Association between NOD2/CARD15 polymorphisms and coronary artery disease: a case-control study
Sara Galluzzo1, Giuseppe Patti, Giordano Dicuonzo
1Department of Medical Oncology, Campus Bio-Medico University of Rome, Rome, Italy. s.galluzzo@unicampus.it
Human Immunology
|May 14, 2011
Summary
Genetic variations in the NOD2/CARD15 gene influence coronary artery disease (CAD) risk. The Leu1007fsinsC polymorphism increases CAD risk, while GLY908ARG shows a protective effect, independent of traditional risk factors.
Area of Science:
- Genetics and Molecular Biology
- Cardiovascular Medicine
- Immunology
Background:
- Inflammation and immune responses are key in atherosclerosis pathogenesis.
- The role of specific gene polymorphisms in coronary artery disease (CAD) risk requires further investigation.
Purpose of the Study:
- To investigate the association between NOD2/CARD15 gene polymorphisms and the risk of developing clinically evident coronary artery disease (CAD).
- To determine if specific NOD2/CARD15 variants influence CAD risk and clinical presentation.
Main Methods:
- Prospective study analyzing NOD2/CARD15 polymorphisms (ARG702TRP, GLY908ARG, Leu1007fsinsC) in 109 CAD patients and 109 controls.
- Genotyping performed using polymerase chain reaction and restriction digestion.
- Statistical analysis included odds ratios, confidence intervals, and multivariable analysis.
Main Results:
- The Leu1007fsinsC polymorphism was significantly more prevalent in CAD patients (11.9% vs 1.8%), particularly in acute coronary syndrome cases.
- The GLY908ARG polymorphism was less frequent in CAD patients (1.8% vs 6.4%), suggesting a protective effect.
- The ARG702TRP polymorphism showed a higher prevalence in CAD patients (10.1% vs 3.7%).
Conclusions:
- NOD2/CARD15 gene polymorphisms are associated with clinically evident coronary artery disease in a Caucasian population.
- The Leu1007fsinsC variant increases CAD risk and plaque instability, while GLY908ARG offers protection against atherogenesis.
- These genetic associations are independent of cardiovascular risk factors, suggesting potential for novel cardiovascular risk stratification.
Related Concept Videos
01:30Coronary Artery Disease I: Introduction
Coronary Artery Disease (CAD): An Overview with Scientific InsightsCoronary Artery Disease (CAD), often referred to as C-A-D, is a prevalent blood vessel disorder classified under the broader category of atherosclerosis. Atherosclerosis is a pathological process characterized by the hardening and narrowing of arteries due to the accumulation of atherosclerotic plaques. These plaques are composed of cholesterol, fatty substances, inflammatory cells, calcium, and fibrin, reducing blood flow to...
01:26Coronary Artery Disease II: Pathophysiology
Coronary Artery Disease (CAD) originates from a series of events that impair the function of coronary arteries, the blood vessels responsible for delivering oxygen-rich blood to the heart muscle. The pathophysiology of CAD is closely linked to atherosclerosis, a chronic inflammatory and lipid-driven condition affecting the vascular endothelium.1. Endothelial DamageThe process begins with damage to the vascular endothelium, which serves as a protective barrier between the blood and the vessel...
01:11Genome-wide Association Studies-GWAS
Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
GWAS does not require the identification of the target gene involved in...
01:30Coronary Artery Disease III: Clinical Manifestations
Coronary Artery Disease (CAD) is a primary health risk worldwide, leading to significant morbidity and mortality. The condition arises from the buildup of atherosclerotic plaques within the coronary arteries, resulting in diminished blood supply to the heart muscle.The clinical manifestations of CAD vary widely, from asymptomatic stages to severe, life-threatening conditions. Understanding these manifestations is crucial for early diagnosis and effective management.Angina Pectoris: The Warning...
01:26Coronary Artery Disease IV: Preventive Measures
Effective preventive measures for coronary artery disease (CAD) focus on controlling modifiable risk factors, including cholesterol abnormalities and lifestyle changes.Cholesterol ManagementFirst, the Mediterranean diet and the American Heart Association advocate for maintaining low-density lipoprotein (LDL) cholesterol levels below 100 mg/dL, with a more stringent recommendation of below 70 mg/dL for individuals at high risk. LDL cholesterol, often termed "bad cholesterol," can lead to the...
01:29Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu
Genetic variations significantly influence drug response through pharmacokinetics, receptor interactions, and biologic milieu modifications. Pharmacokinetic alterations impact drug metabolism and clearance, affecting efficacy and toxicity. Variants in drug-metabolizing enzymes, such as CYP2C9 and CYP2C19, alter drug activation and elimination. For example, CYP2C9 loss-of-function variants require lower warfarin doses to prevent excessive bleeding, while CYP2C19 variants reduce clopidogrel...