title: The Th1/E47cs-G apolipoprotein E (APOE) promoter allele is a risk factor for Alzheimer disease of very later onset.
abstract: Several polymorphisms in the apolipoprotein E (APOE) promoter region have been recently described. Of interest, APOE gene expression is increased in association with the -491AT polymorphism T-allele and decreased in relation to the Th1/E47cs polymorphism G-allele. In the present study we have investigated both polymorphisms in a series of 183 Alzheimer disease (AD) patients and 169 controls divided into age at onset/age dependent subgroups and the data obtained have been corrected for the presence of both expression-changing alleles in APOE homozygous individuals. Subsequently, the associations among APOE promoter polymorphisms, APOE4, and AD were assessed by chi-square and logistic regression analyses. Significantly, patients whose age at onset of AD was 80 years or more showed an association between the Th1/E47cs-G allele and AD that was independent of the APOE4 allele.
authors.affiliation: Department of Pathology, Hospital Universitari Germans Trias i Pujol, Autonomous University of Barcelona, Ctra. de Canyet s/n, 08916 Badalona, Barcelona, Spain. jilaov@hotmail.com
authors.forename: Katrin
authors.initials: K
authors.lastname: Beyer
authors.forename: José I
authors.initials: JI
authors.lastname: Lao
authors.forename: Milagros
authors.initials: M
authors.lastname: Gómez
authors.forename: Nadal
authors.initials: N
authors.lastname: Riutort
authors.forename: Pilar
authors.initials: P
authors.lastname: Latorre
authors.forename: José L
authors.initials: JL
authors.lastname: Mate
authors.forename: Aurelio
authors.initials: A
authors.lastname: Ariza
mesh_terms: D017668:Age of Onset; D000368:Aged; D000369:Aged, 80 and over; D000544:Alzheimer Disease / Q000235:genetics*; D001057:Apolipoproteins E / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008875:Middle Aged; D011110:Polymorphism, Genetic; D011401:Promoter Regions, Genetic; D012307:Risk Factors
chemical_list: D001057:Apolipoproteins E