Related Experiment Video

Updated: Jun 22, 2026

Multi-Gene Single Nucleotide Polymorphism Detection in Gastric Cancer Based on Ion Semiconductor Sequencing Platform
06:21

Multi-Gene Single Nucleotide Polymorphism Detection in Gastric Cancer Based on Ion Semiconductor Sequencing Platform

Published on: May 10, 2024

Homocysteine and MTHFR and VEGF gene polymorphisms: impact on coronary artery disease

Alexandre Rodrigues Guerzoni1, Patrícia Matos Biselli, Moacir Fernandes de Godoy

  • 1Faculdade de Medicina de São José do Rio Preto, São José do Rio Preto, SP, Brazil.

Arquivos Brasileiros De Cardiologia
|July 1, 2009
PubMed

Insights

Genetic variations in VEGF and MTHFR genes do not appear to be independent risk factors for coronary artery disease (CAD). While some associations were observed, they were not significant after considering other cardiovascular risk factors.

Area of Science:

  • Cardiovascular Genetics
  • Molecular Biology
  • Medical Research

Background:

  • Genetic polymorphisms in angiogenesis, atherosclerosis, and homocysteine metabolism may influence coronary artery disease (CAD) risk.
  • Investigating specific gene variants like VEGF C-2578A and MTHFR C677T is crucial for understanding CAD pathogenesis.

Purpose of the Study:

  • To assess the impact of VEGF C-2578A and MTHFR C677T polymorphisms on CAD.
  • To determine the relationship between these polymorphisms and the severity of atherosclerotic lesions, as well as plasma homocysteine levels.

Main Methods:

  • Coronary angiography was performed on 244 subjects (145 with CAD, 99 controls).
  • VEGF C-2578A and MTHFR C677T polymorphisms were analyzed using PCR-SSCP and PCR-RFLP.
  • Plasma homocysteine concentrations were measured via liquid chromatography/sequential mass spectrometry (LC-MS/MS).

Main Results:

  • No significant differences in allele or genotype frequencies were found between CAD patients and controls for either polymorphism.
  • Univariate analysis suggested a higher frequency of VEGF -2578AA genotype in patients with three-vessel disease and VEGF -2578CA in those with <95% stenosis.
  • Multivariate analysis indicated that VEGF C-2578A is not an independent predictor of CAD, and MTHFR C677T showed no association with CAD severity, extension, or homocysteine levels.

Conclusions:

  • The apparent association between VEGF C-2578A and coronary atherosclerosis development is not independent of established cardiovascular risk factors.
  • MTHFR C677T polymorphism does not appear to be a significant genetic risk factor for CAD or hyperhomocysteinemia in this study population.
Abstract

Related Concept Videos

Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu01:29

Pharmacogenetic 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...
Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase01:11

Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase

Genetic polymorphisms in drug targets have emerged as critical determinants of interindividual variability in drug response and toxicity. Pharmacogenomic investigations increasingly focus on identifying these variations to personalize and optimize therapeutic interventions. A drug target may be a receptor, enzyme, or signaling protein involved in pharmacologic responses or disease-related pathways. While early pharmacogenetic studies focused primarily on drug metabolism, current research...
Pharmacogenomics: Identification of New Drug Targets01:29

Pharmacogenomics: Identification of New Drug Targets

Advances in genomics have profoundly influenced drug discovery by increasing both the speed and accuracy of pharmaceutical development. Pharmacogenomics, which examines how genetic variation influences drug response, facilitates the identification of novel therapeutic targets and enables patient stratification for personalized treatment. These strategies contribute to improved drug efficacy, minimized adverse effects, and more efficient clinical trial design.Mapping genetic differences...
Pharmacogenetics of Drug Metabolism: Overview01:27

Pharmacogenetics of Drug Metabolism: Overview

Genetic polymorphism in drug metabolism is crucial to the inter-individual variability observed in drug responses. Drug metabolism primarily involves the chemical modification of drugs and other xenobiotics to enhance their elimination by increasing their polarity. Two main classes of enzymes mediate this biotransformation process: Phase I enzymes, primarily cytochrome P450s, catalyze oxidation and reduction reactions, while other enzymes, such as esterases, mediate hydrolysis, and Phase II...
Blood Studies for Cardiovascular System II: CRP, Hcy, and Cardiac Natriuretic Peptide Markers01:19

Blood Studies for Cardiovascular System II: CRP, Hcy, and Cardiac Natriuretic Peptide Markers

Cardiac biomarkers are critical in diagnosing, prognosing, and managing cardiovascular diseases. Routine measurement of specific biomarkers such as B-type natriuretic peptide (BNP), C-reactive protein (CRP), and homocysteine (Hcy) is common practice in clinical settings to evaluate heart function and predict cardiovascular events.
These markers indicate stress or strain on the heart muscle:
Natriuretic Peptides (BNP)
Cardiac myocytes produce these hormones in response to ventricular stretching...
Coronary Artery Disease II: Pathophysiology01:26

Coronary 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...