title: Implication of alpha1-antichymotrypsin polymorphism in familial Alzheimer's disease.
abstract: A common polymorphism in the alpha1-antichymotrypsin (ACT) gene has been shown to modify the Apolipoprotein E (ApoE) epsilon4-associated Alzheimer's disease (AD) risk identifying the combination of the ACT/AA and ApoE epsilon4/epsilon4 genotypes as a potential susceptibility marker for AD. Using the polymerase chain reaction, we analyzed the segregation of the ACT and ApoE polymorphisms in familial Alzheimer's disease (FAD) patients carrying mutations in Presenilin (PS) and APP genes and in both early onset (EO) and late onset (LO) FAD patients without known mutations. Our data suggest that ACT does not represent an additional risk factor for PS and APP mutated families. However, in LOFAD patients a high frequency of the combined ACT/AA and ApoE epsilon4/epsilon4 genotypes suggest that ACT may interact with ApoE and play a role in LOFAD.
authors.affiliation: Department of Neurological and Psychiatric Sciences, University of Florence, Italy.
authors.forename: B
authors.initials: B
authors.lastname: Nacmias
authors.forename: G
authors.initials: G
authors.lastname: Marcon
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: Latorraca
authors.forename: S
authors.initials: S
authors.lastname: Piacentini
authors.forename: L
authors.initials: L
authors.lastname: Amaducci
authors.forename: S
authors.initials: S
authors.lastname: Sorbi
mesh_terms: D000328:Adult; D017668:Age of Onset; D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D000544:Alzheimer Disease / Q000235:genetics*; D016229:Amyloid beta-Peptides / Q000235:genetics; D053327:Apolipoprotein E4; D001057:Apolipoproteins E / Q000235:genetics; D004198:Disease Susceptibility; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics; D008875:Middle Aged; D011110:Polymorphism, Genetic; D053764:Presenilin-1; D012016:Reference Values; D012307:Risk Factors; D000514:alpha 1-Antichymotrypsin / Q000235:genetics*
chemical_list: D016229:Amyloid beta-Peptides; D053327:Apolipoprotein E4; D001057:Apolipoproteins E; D008565:Membrane Proteins; C508853:PSEN1 protein, human; D053764:Presenilin-1; D000514:alpha 1-Antichymotrypsin