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Polymorphisms of apolipoprotein E and Japanese patients with multiple sclerosis

M Niino1, S Kikuchi, T Fukazawa

  • 1Department of Neurology, Hokkaido University Graduate School of Medicine, Kita-15 Nishi-7, Kita-ku, Sapporo 060-8638, Japan. niino@med.hokudai.ac.jp

Multiple Sclerosis (Houndmills, Basingstoke, England)
|August 21, 2003
PubMed

Insights

This study found no association between apolipoprotein (APOE) gene polymorphisms and multiple sclerosis (MS) in Japanese patients. APOE gene variations did not impact disease progression or severity in this cohort.

Area of Science:

  • Neurogenetics
  • Immunology

Background:

  • The apolipoprotein E (APOE) gene is implicated in various neurological diseases, but its role in multiple sclerosis (MS) progression remains debated.
  • Previous studies on APOE gene polymorphisms and MS have yielded conflicting results, necessitating further investigation in diverse populations.

Purpose of the Study:

  • To investigate the association between APOE gene polymorphisms and the risk and progression of multiple sclerosis (MS) specifically in a Japanese patient cohort.
  • To clarify the controversial relationship between APOE genotypes and MS disease severity and progression.

Main Methods:

  • Genotyping of APOE gene polymorphisms was performed using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technique.
  • A cohort of 135 Japanese patients with MS and 134 healthy Japanese controls were analyzed for APOE allele frequencies.
  • Disease progression was assessed using the Expanded Disability Status Scale (EDSS) in relation to time since disease onset and APOE genotype.

Main Results:

  • No significant differences were observed in the distribution of APOE gene polymorphisms between Japanese MS patients and healthy controls.
  • APOE gene polymorphisms, including the epsilon4 allele, were not associated with the disease progression index (EDSS/years) in the studied MS patients.
  • Among patients with over 10 years of disease duration, no significant differences in epsilon4 allele frequency were found between those with EDSS scores above 6 and others.

Conclusions:

  • The findings suggest that APOE gene polymorphisms are not significantly related to the risk or progression of multiple sclerosis in the Japanese population.
  • The low prevalence of the APOE epsilon4 allele in Japan may influence these findings and warrants consideration in future research.
  • Further large-scale, multi-ethnic studies are needed to definitively establish the role of APOE in MS pathogenesis and progression worldwide.

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