title: Presenilin-1 gene intronic polymorphism in sporadic and familial Alzheimer's disease.
abstract: A recent observation has shown a genetic association between an intronic polymorphism in the Presenilin-1 (PS-1) gene and late onset Alzheimer's disease (AD). The homozygosity of the 1 allele in the PS-1 gene was associated with a doubling of the risk for late onset AD. However, contrasting results have been published. We analyzed the distribution of the PS-1 intronic polymorphism in patients with sporadic AD and in seven familial AD (FAD) families carrying pathogenetic mutations in the amyloid precursor protein (APP) and Presenilin (PS-1 and PS-2) genes. Significant differences in PS-1 allele frequencies were observed in the Presenilin genes mutated families but not in late onset AD patients and in APP mutated families.
authors.affiliation: Department of Neurological and Psychiatric 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: A
authors.initials: A
authors.lastname: Tedde
authors.forename: P
authors.initials: P
authors.lastname: Forleo
authors.forename: S
authors.initials: S
authors.lastname: Piacentini
authors.forename: S
authors.initials: S
authors.lastname: Latorraca
authors.forename: L
authors.initials: L
authors.lastname: Amaducci
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D000544:Alzheimer Disease / Q000235:genetics*; D005192:Family Health; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D007438:Introns / Q000235:genetics*; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation; D011110:Polymorphism, Genetic; D053764:Presenilin-1
chemical_list: D008565:Membrane Proteins; C508853:PSEN1 protein, human; D053764:Presenilin-1