Related Experiment Video

Updated: May 21, 2026

A High Throughput, Multiplexed and Targeted Proteomic CSF Assay to Quantify Neurodegenerative Biomarkers and Apolipoprotein E Isoforms Status
07:08

A High Throughput, Multiplexed and Targeted Proteomic CSF Assay to Quantify Neurodegenerative Biomarkers and Apolipoprotein E Isoforms Status

Published on: October 20, 2016

Apolipoprotein E polymorphisms status in Iranian patients with multiple sclerosis

Mahdi Rafiei1, Marjan Zarif Yeganeh, Sara Sheikholeslami

  • 1Reference Health Laboratory, Ministry of Health and Medical Education, Tehran, Iran.

Journal of the Neurological Sciences
|June 16, 2012
PubMed
Abstract

Insights

Apolipoprotein E (APOE) ε4 allele and APOE-ε3ε4 genotype increase multiple sclerosis (MS) risk in Iranians. Conversely, APOE-ε2 allele and APOE-ε2ε3 genotype appear protective against MS development.

Area of Science:

  • Neuroimmunology
  • Genetics
  • Epidemiology

Background:

  • Multiple sclerosis (MS) is a central nervous system inflammatory demyelinating disease.
  • Apolipoprotein E (APOE) is implicated in myelin repair, neuronal plasticity, and neuroinflammation, suggesting a role in MS.
  • This study investigates the association between APOE genotypes/alleles and MS susceptibility.

Purpose of the Study:

  • To determine the association between apolipoprotein E (APOE) genotypes and alleles and the risk of developing multiple sclerosis (MS) in an Iranian population.

Main Methods:

  • Genotyping of the APOE gene in 147 MS cases and 168 controls using the PCR-RFLP method.
  • Statistical analysis to compare genotype and allele frequencies between MS patients and control subjects.

Main Results:

  • APOE-ε3ε4 genotype was significantly more frequent in MS cases (8.2%) compared to controls (3.6%).
  • APOE-ε4 allele frequency was higher in MS cases (4.8%) versus controls (2.1%).
  • APOE-ε2 allele frequency was lower in MS cases (4.4%) compared to controls (8.0%), and the APOE-ε2ε3 genotype was also less common in cases.

Conclusions:

  • APOE-ε4 allele and APOE-ε3ε4 genotype are associated with an increased risk of MS in the Iranian population.
  • APOE-ε2 allele and APOE-ε2ε3 genotype may confer a protective effect against MS development.
  • Further research is needed to elucidate the precise role of APOE in MS pathogenesis.

More Related Videos

Generalized Psychophysiological Interaction (PPI) Analysis of Memory Related Connectivity in Individuals at Genetic Risk for Alzheimer's Disease09:38

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

Published on: November 14, 2017

Related Concept Videos

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...
Multiple Sclerosis l: Introduction01:19

Multiple Sclerosis l: Introduction

Multiple sclerosis is a chronic autoimmune disease of the central nervous system (CNS) that affects the brain, spinal cord, and optic nerves. It is an inflammatory demyelinating disorder and a leading cause of neurological disability in young adults.EpidemiologyMS commonly begins between 20 and 40 years of age and is twice as common in women. Its exact cause remains unclear, but genetic susceptibility contributes, with higher risk in first-degree relatives and identical twins. A greater...
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...
Atherosclerosis II: Clinical Manifestations and Diagnostic Tests01:27

Atherosclerosis II: Clinical Manifestations and Diagnostic Tests

Atherosclerosis is a progressive disorder that leads to the thickening and narrowing of arterial walls due to plaque buildup. This condition can cause various symptoms depending on the arteries affected:Coronary Artery Disease (CAD): This condition affects the coronary arteries and may lead to chest pain (angina), shortness of breath (dyspnea), heart attacks, and other heart disease symptoms.Cerebrovascular Disease: This affects blood flow to the brain, causing transient ischemic attacks (TIAs)...