Alzheimer's disease and apolipoprotein E in Italy

Ann N Y Acad Sci. 1996 Jan 17;777:260-5. doi: 10.1111/j.1749-6632.1996.tb34429.x.


Recent studies have provided evidence of association of apolipoprotein E (ApoE) epsilon 4 allele and late onset familial and sporadic Alzheimer's disease (AD). Epidemiological studies have established allelic variation at the ApoE locus. We have analyzed the ApoE gene polymorphism in a sample of 416 Italian subjects. Our data confirm a significant association between epsilon 4 allele and sporadic AD. The frequency of epsilon 4 allele in early onset familial AD patients was comparable to control values suggesting that epsilon 4 allele does not represent a risk factor for early onset familial AD (EOFAD). Moreover, we found a not-previously reported association between ApoE epsilon 2 allele and sporadic AD and EOFAD. We included in this study two EOFAD families with the APP717 Val-->Ile mutation in the Amyloid Precursor Protein (APP) gene on chromosome 21. In any of the EOFAD families there was a significant effect of the ApoE genotype on the age of onset with the exception of one of the two mutated EOFAD families in which the 2 allele delays the age of onset.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Age of Onset
  • Alleles
  • Alzheimer Disease / epidemiology
  • Alzheimer Disease / genetics*
  • Apolipoproteins E / genetics*
  • Gene Frequency
  • Genotype
  • Humans
  • Italy / epidemiology
  • Middle Aged
  • Mutation


  • Apolipoproteins E