Polymorphism: APOE polymorphism



Variant Type: Haplotype
Location: 19q13.2

Factor:
- Symbol: APOE
- Name: apolipoprotein E
- Entrez ID: 348
- Ensembl ID: ENSG00000130203

Factors:
  • APOE apolipoprotein E ( 348 / ENSG00000130203 )


  • Description:

    There is a significant effect of HP 1/2 polymorphism on APOEε4 carriers (p=0.006); HP1/1 genotype protects APOEε4carriers from age-related negative selection, while the HP2 allele seems to enhance the deleterious effect of APOEε4"

    APOE4 OR to live longer = 0.377

    APOE2 OR to live longer = 1.479

    APOE polymorphism includes haplotype combination of rs429358-rs7412 polymorphisms.

    Ethnicity: Italian
    Age of cases: >88
    Shorter lived allele: e4
    Longer lived allele: e2
    Finding: Positive

    Statistics
    - Number of cases/controls: 200 (cases) vs 539 (initial)
    - Odds ratio: 0.377
    - Odds ratio type: Longer
    - p-value: 0.002 [0.002 (e4), 0.037 (e2)]
    - Significant: Yes

    Study Design
    - Classifications: Longevity-Associated
    - Study type: Candidate Region/Gene
    - Technology: PCR-RFLP

    Reference:
    21703254: APOE haplotypes are associated with human longevity in a Central Italy population: evidence for epistasis with HP 1/2 polymorphism.

    Choice: Clean
    Created: July 1, 2013, 1:04 p.m.
    Updated: Aug. 8, 2014, 1:06 p.m.

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