Alzheimer's Disease and Apolipoprotein E in Italya

Abstract
Recent studies have provided evidence of association of apolipoprotein E (ApoE) ε4 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 ε4 allele and sporadic AD. The frequency of ε4 allele in early onset familial AD patients was comparable to control values suggesting that ε4 allele does not represent a risk factor for early onset familial AD (EOFAD). Moreover, we found a not‐previously reported association between ApoE ε2 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.