title: Apolipoprotein E and alpha1-antichymotrypsin polymorphism in Alzheimer's disease.
abstract: A recent observation has shown that a common polymorphism in the alpha1-antichymotrypsin (ACT) gene modifies 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. We analyzed the segregation of the ApoE and ACT polymorphism in sporadic and familial AD patients. In none of the sporadic AD patients did we find the combination of the ACT/AA and ApoE epsilon4/epsilon4 genotypes. The frequency of ApoE epsilon4/epsilon4 homozygosity in the AD sample resulted highest for the ACT/ TT genotype (17.6%). Our data fail to confirm any additional association with AD beyond the ApoE epsilon4 allele with any ACT genotype, suggesting that ACT does not represent an additional risk factor for AD.
authors.affiliation: Department of Neurological and Psychiatric Sciences, University of Florence, Italy.
authors.forename: B
authors.initials: B
authors.lastname: Nacmias
authors.forename: A
authors.initials: A
authors.lastname: Tedde
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: Bracco
authors.forename: L
authors.initials: L
authors.lastname: Amaducci
authors.forename: B M
authors.initials: BM
authors.lastname: Guarnieri
authors.forename: C
authors.initials: C
authors.lastname: Petruzzi
authors.forename: L
authors.initials: L
authors.lastname: Ortenzi
authors.forename: S
authors.initials: S
authors.lastname: Sorbi
mesh_terms: D000328:Adult; D017668:Age of Onset; D000368:Aged; D000483:Alleles; D000544:Alzheimer Disease / Q000235:genetics*; D001057:Apolipoproteins E / Q000235:genetics*; D005838:Genotype; D006720:Homozygote; D006801:Humans; D008875:Middle Aged; D011110:Polymorphism, Genetic; D000514:alpha 1-Antichymotrypsin / Q000235:genetics*
chemical_list: D001057:Apolipoproteins E; D000514:alpha 1-Antichymotrypsin