title: Apolipoprotein E and alpha-1 antichymotrypsin polymorphism genotyping in Alzheimer's disease and in dementia with Lewy bodies. Distinctions between diseases.
abstract: The possibility of gene interactions in Alzheimer's disease (AD) has been suggested by the finding of an association of the AA genotype of the alpha-1 antichymotrypsin (AACT) gene and the apolipoprotein E (apoE) epsilon 4/4 genotype in AD. We tested this possibility by genotyping a large series of clinically and neuropathologically confirmed cases of AD and a series of cases with dementia with Lewy bodies (DLB) with a matched control group for the AACT locus and apoE. ApoE genotyping showed the established finding of an increased frequency of the apoE epsilon 4 allele in AD and in DLB. The AD and DLB groups differed between each other with a higher epsilon 2 allele frequency and a reduced incidence of the epsilon 4/4 genotype in DLB. Differences in the apoE frequencies may account for some of the differences between the two diseases. No association was found for the AACT A allele in AD or DLB in the groups as a whole or when stratified with respect to apoE, with the exception of a trend showing an increased incidence of the apoE epsilon 4/4 AACT AA genotype combination in AD patients (chi 2 = 3.18, p = 0.07), although in DLB this was not apparent (chi 2 = 0.0, p = 1.0). The AACT A allele is not a major risk factor for late-onset AD or DLB.
authors.affiliation: MRC Neurochemical Pathology Unit, Newcastle General Hospital, Newcastle upon Tyne, UK.
authors.forename: H
authors.initials: H
authors.lastname: Lamb
authors.forename: J
authors.initials: J
authors.lastname: Christie
authors.forename: A B
authors.initials: AB
authors.lastname: Singleton
authors.forename: A
authors.initials: A
authors.lastname: Leake
authors.forename: R H
authors.initials: RH
authors.lastname: Perry
authors.forename: P G
authors.initials: PG
authors.lastname: Ince
authors.forename: I G
authors.initials: IG
authors.lastname: McKeith
authors.forename: L M
authors.initials: LM
authors.lastname: Melton
authors.forename: J A
authors.initials: JA
authors.lastname: Edwardson
authors.forename: C M
authors.initials: CM
authors.lastname: Morris
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D000544:Alzheimer Disease / Q000145:classification / Q000235:genetics*; D001057:Apolipoproteins E / Q000235:genetics*; D003704:Dementia / Q000209:etiology / Q000235:genetics*; D005787:Gene Frequency; D005838:Genotype; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008875:Middle Aged; D009778:Occipital Lobe / Q000737:chemistry; D010300:Parkinson Disease / Q000150:complications / Q000235:genetics*; D011110:Polymorphism, Genetic; D011446:Prospective Studies; D012016:Reference Values; D000514:alpha 1-Antichymotrypsin / Q000235:genetics*
chemical_list: D001057:Apolipoproteins E; D000514:alpha 1-Antichymotrypsin