Related Experiment Video

Updated: Aug 15, 2026

Generalized Psychophysiological Interaction (PPI) Analysis of Memory Related Connectivity in Individuals at Genetic Risk for Alzheimer's Disease
09:38

Generalized Psychophysiological Interaction (PPI) Analysis of Memory Related Connectivity in Individuals at Genetic Risk for Alzheimer's Disease

Published on: November 14, 2017

Polymorphisms in the apolipoprotein E gene regulatory region in relation to coronary heart disease and their effect

R M Corbo1, R Scacchi, T Vilardo

  • 1Department of Genetics and Molecular Biology, La Sapienza University, Rome, Italy. Corbo@axcasp.caspur.it

Clinical Chemistry and Laboratory Medicine
|March 21, 2001
PubMed

Insights

The APOE*4 allele is linked to coronary heart disease (CHD). A specific variant, -427*C, may increase CHD risk in individuals without the APOE*4 allele, but does not affect apoE levels.

Area of Science:

  • Cardiovascular Genetics
  • Molecular Biology
  • Human Genetics

Background:

  • Previous studies linked apolipoprotein E (APOE) genotypes, particularly APOE*4, to coronary heart disease (CHD) risk and altered apoE plasma levels.
  • The APOE gene's promoter region contains polymorphisms (-491A/T and -427T/C) that may influence apoE expression levels.

Purpose of the Study:

  • To investigate the association of APOE promoter polymorphisms (-491A/T and -427T/C) with CHD in a male patient cohort.
  • To determine if these polymorphisms affect apoE plasma concentrations in CHD patients and controls.

Main Methods:

  • Genotyping of APOE promoter polymorphisms (-491A/T and -427T/C) in male CHD patients and controls.
  • Analysis of allele and genotype frequencies between cases and controls.
  • Stratification analysis based on the presence or absence of the APOE*4 allele.

Main Results:

  • No significant difference in -491A/T polymorphism distribution was found between CHD patients and controls.
  • A marginally significant excess of the -427*C allele and its genotypes was observed in CHD patients compared to controls.
  • The excess of the -427*C allele was primarily observed in CHD patients lacking the APOE*4 allele, suggesting a potential risk in specific genetic contexts.
  • Neither -491A/T nor -427T/C polymorphisms showed an apparent effect on apoE plasma concentration in this cohort.

Conclusions:

  • The -427*C polymorphism in the APOE promoter may represent an independent risk factor for CHD in individuals without the APOE*4 allele.
  • These promoter variations do not appear to influence apoE plasma levels in the context of CHD.
  • Further research is needed to elucidate the precise mechanisms by which -427*C influences CHD risk.

More Related Videos

Cell-free Biochemical Fluorometric Enzymatic Assay for High-throughput Measurement of Lipid Peroxidation in High Density Lipoprotein07:29

Cell-free Biochemical Fluorometric Enzymatic Assay for High-throughput Measurement of Lipid Peroxidation in High Density Lipoprotein

Published on: October 12, 2017

Quantification of Atherosclerosis in Mice06:59

Quantification of Atherosclerosis in Mice

Published on: June 12, 2019

Related Concept Videos

Principles of Pharmacogenetics: Types of Genetic Variants01:27

Principles of Pharmacogenetics: Types of Genetic Variants

The human genome is over 99.9% identical between individuals, yet genetic differences exist at millions of bases. The human genome contains approximately 3 million variant positions per individual, many of which are heterozygous, contributing to genetic diversity and individual traits. Genetic variations include single-nucleotide polymorphisms (SNPs), insertions, deletions, and copy number variations (CNVs).SNPs, the most common variation, involve single-base changes in DNA. These can be...
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 Transporters: P-Glycoprotein and Solute Carrier Transporters01:16

Pharmacogenetics of Drug Transporters: P-Glycoprotein and Solute Carrier Transporters

The pharmacogenetics of drug transporters is increasingly recognized as a critical factor influencing interindividual variability in drug absorption, distribution, and elimination. These membrane-bound proteins regulate drugs' movement across cellular barriers by actively pumping them out (efflux) or facilitating their uptake (influx). Among the major transporter families, ATP-binding cassette (ABC) and solute carrier (SLC) transporters play particularly prominent roles. Genetic polymorphisms...
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...
Coronary Artery Disease I: Introduction01:30

Coronary 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...