title: Alzheimer's disease and apolipoprotein E in Italy.
abstract: 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.
authors.affiliation: Department of Neurological Sciences, University of Florence, Italy.
authors.forename: S
authors.initials: S
authors.lastname: Sorbi
authors.forename: B
authors.initials: B
authors.lastname: Nacmias
authors.forename: P
authors.initials: P
authors.lastname: Forleo
authors.forename: S
authors.initials: S
authors.lastname: Piacentini
authors.forename: L
authors.initials: L
authors.lastname: Amaducci
mesh_terms: D000328:Adult; D017668:Age of Onset; D000483:Alleles; D000544:Alzheimer Disease / Q000453:epidemiology / Q000235:genetics*; D001057:Apolipoproteins E / Q000235:genetics*; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D007558:Italy / Q000453:epidemiology; D008875:Middle Aged; D009154:Mutation
chemical_list: D001057:Apolipoproteins E