title: Identification of a protective allele against Alzheimer disease in the APOE gene promoter.
abstract: Alzheimer disease (AD) risk is significantly influenced by the APOE2 and APOE4 alleles. In turn, the -491AT and TH1/E47cs polymorphisms alter APOE gene expression levels. To determine whether these two alleles exert any significant effect on AD development we have analysed the genotypes of the APOE promoter -491AT and Th1/E47cs polymorphisms in 163 AD patients and 155 controls divided into three age at onset/age dependent subgroups. Our study has detected a Th1/E47cs-T allele accumulation in healthy individuals over 75 years of age, which suggests it plays a protective role against AD. The Th1/E47cs-T allele may provide greater protection against AD than APOE2, although this awaits proof of Th1/E47cs-T allele overrepresentation in healthy individuals of other populations.
authors.affiliation: Department of Pathology, Hospital Universitari Germans Trias i Pujol, Autonomous University of Barcelona, Ctra. de Canyet s/n, 08916 Badalona, Spain.
authors.forename: Kartrin
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: D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D000544:Alzheimer Disease / Q000235:genetics* / Q000517:prevention & control*; D001057:Apolipoproteins E / Q000235:genetics*; D016009:Chi-Square Distribution; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D016017:Odds Ratio; D011110:Polymorphism, Genetic / Q000235:genetics*; D011401:Promoter Regions, Genetic / Q000235:genetics*
chemical_list: D001057:Apolipoproteins E