title: Alpha 1-antichymotrypsin gene polymorphism and risk for Alzheimer's disease.
abstract: alpha 1-Antichymotrypsin (ACT), a component of the senile plaque of the Alzheimer's disease (AD) brain, has a possible role as a molecular chaperone in developing AD pathology. This study was a search for the possible association of the two structural polymorphisms of ACT, Ala15-->Thr and Met389-->Val in the Japanese population. In 101 AD patients, genotype and allele frequencies of the two polymorphisms did not differ from those of 104 age-matched healthy controls. However, in those subjects in which the apolipoprotein epsilon 4 allele was absent, the frequency of the Ala15 homozygote was significantly higher in the AD patients than in controls. This suggests that the Ala15 homozygote state may be a susceptibility marker for AD, interacting with apolipoprotein E genotype.
authors.affiliation: Department of Psychiatry, Kurihama National Hospital, Kanagawa, Japan.
authors.forename: T
authors.initials: T
authors.lastname: Muramatsu
authors.forename: S
authors.initials: S
authors.lastname: Matsushita
authors.forename: H
authors.initials: H
authors.lastname: Arai
authors.forename: H
authors.initials: H
authors.lastname: Sasaki
authors.forename: S
authors.initials: S
authors.lastname: Higuchi
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D000544:Alzheimer Disease / Q000208:ethnology / Q000235:genetics*; D053327:Apolipoprotein E4; D001057:Apolipoproteins E / Q000235:genetics*; D044466:Asian People / Q000235:genetics; D004198:Disease Susceptibility; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D017354:Point Mutation; D011110:Polymorphism, Genetic; D012307:Risk Factors; D000514:alpha 1-Antichymotrypsin / Q000235:genetics*
chemical_list: D053327:Apolipoprotein E4; D001057:Apolipoproteins E; D000514:alpha 1-Antichymotrypsin