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

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.

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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.