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Related Experiment Videos

Discrepancies between apolipoprotein E phenotyping and genotyping in the elderly.

A M Dupuy1, S Badiou, K Ritchie

  • 1Department of Biochemistry, Lapeyronie Hospital, Montpellier, France.

Clinical Chemistry and Laboratory Medicine
|July 4, 2001
PubMed
Summary

Investigating apolipoprotein E (apoE) in elderly subjects revealed discordance between phenotype and genotype methods. The E4 allele strongly correlated with Alzheimer

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Area of Science:

  • Genetics
  • Neuroscience
  • Biochemistry

Background:

  • Apolipoprotein E (apoE) plays a crucial role in lipid transport and has been linked to Alzheimer's disease.
  • Phenotype (isoelectric focusing; IEF) and genotype (PCR/Hhal) methods are commonly used to study apoE polymorphism.
  • Discordance between these methods can complicate research findings.

Purpose of the Study:

  • To estimate the frequencies of phenotype vs. genotype discordance for apolipoprotein E (apoE) in an elderly population.
  • To investigate the association between apoE polymorphism and Alzheimer's disease and cholesterol levels.
  • To explore potential explanations for discrepancies between gene and protein characterization.

Main Methods:

  • Studied 125 unrelated elderly subjects (> 65 years).

Related Experiment Videos

  • Utilized both isoelectric focusing (IEF) for phenotype and PCR/Hhal for genotype analysis of apoE.
  • Performed statistical analyses including chi-squared and Mann-Whitney tests.

    • Main Results:

    • Unresolved discordance between phenotype and genotype was observed in 8.8% of subjects.
    • A significant association was found between the apoE E4 allele and Alzheimer's disease (p < 0.001).
    • The E4 allele was also significantly associated with increased cholesterol concentration (p < 0.03).

    Conclusions:

    • The observed associations between apoE E4, Alzheimer's disease, and cholesterol were independent of the methodology used.
    • Transcriptional modulation and post-transductional modifications may explain discordances between gene and protein analyses in aging and related diseases.