Apolipoprotein E genotypic frequencies among down syndrome patients imply early unsuccessful aging for ApoE4 carriers

Giusi I. Forte, Maria Piccione, Letizia Scola, Antonino Crivello, Cristina Galfano, Massimiliano M. Corsi, Martina Chiappelli, Giuseppina Candore, Mario Giuffrè, Roberto Verna, Federico Licastro, Giovanni Corsello, Calogero Caruso, Domenico Lio

Research output: Contribution to journalArticlepeer-review


Down syndrome (DS) might be considered a model for unsuccessful and early aging, possibly accelerated for those who carry the APOE4 allele associated with common age-related diseases, e.g., Alzheimer's disease and a poor prognosis after acute myocardial infarction, causing lower ApoE4 frequencies among the very old in general populations. We compared ApoE genotypic frequencies found for healthy adults (n = 211, age <40; n = 79, ages 70-79; n = 71, ages > 90) to those found for DS patients (n = 106, mean age 9 years), all living in western Sicily. We found that the frequency of the ApoE23 genotype increased with age among the healthy adults (8.5%, 6.4%, 19.7%; p = 0.024) while ApoE34 frequency decreased (16.1%, 12.6%, 4.1%; p = 0.012). DS patients had APOE34 genotypic frequencies very similar to those found in septuagenarians (9%; p = 0.005). Analyzing results according to surviving rate of persons with DS, an age-related reduction of ApoE3/4 genotype frequency was found comparing = 5 years old to > 5 years old DS subjects. These results highlight DS as a model to understand the role of APOE4 allele in unsuccessful ageing considering that a number of proinflammatory supernumerary genes (Cu/Zn superoxide dismutase, Ets-2 transcription factors, Down syndrome critical region 1, stress-inducible factor, interferon-α receptor and the amyloid precursor protein) are located on chromosome 21 and are implied in the pathologic processes of DS.

Original languageEnglish
Pages (from-to)293-299
Number of pages7
JournalRejuvenation Research
Issue number3
Publication statusPublished - Sep 2007

ASJC Scopus subject areas

  • Ageing


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