title: Polymorphisms of the human apolipoprotein E promoter and bleomycin hydrolase gene: risk factors for Alzheimer's dementia?
abstract: In addition to the apolipoprotein E (ApoE) tri-allele polymorphism, genetic variants of the apolipoprotein E promoter (-491A/T) and the bleomycin hydrolase (BH-PEN) gene have also been proposed as genetic risk factors for Alzheimer's dementia (AD). Since reports about the relevance of these polymorphisms for the pathogenesis of AD have been contradictory, we performed an association study with some modifications. First, the control group in this study was made up of non-demented psychiatric inpatients, rather than healthy subjects. This procedure allows the specificity of the relationship between a given genotype and AD (as opposed to other psychiatric disorders) to be determined. Second, as an alternative to preexisting relatively time consuming techniques, BH-PEN polymorphism was determined using a simplified method based on PCR genotyping. We found a significant linkage disequilibrium between the -491A/T and ApoE polymorphisms. However, no direct association was observed between the -491A/T or BH-PEN polymorphism and AD.
authors.affiliation: Division of Molecular Psychiatry, Yale University School of Medicine, New Haven, CT 06508, USA. thome@as200.zi-mannheim.de
authors.forename: J
authors.initials: J
authors.lastname: Thome
authors.forename: J C
authors.initials: JC
authors.lastname: Gewirtz
authors.forename: N
authors.initials: N
authors.lastname: Sakai
authors.forename: V
authors.initials: V
authors.lastname: Zachariou
authors.forename: P
authors.initials: P
authors.lastname: Retz-Junginger
authors.forename: W
authors.initials: W
authors.lastname: Retz
authors.forename: R S
authors.initials: RS
authors.lastname: Duman
authors.forename: M
authors.initials: M
authors.lastname: Rösler
mesh_terms: D000483:Alleles; D000544:Alzheimer Disease / Q000235:genetics*; D001057:Apolipoproteins E / Q000235:genetics*; D003546:Cysteine Endopeptidases / Q000235:genetics*; D005819:Genetic Markers; D020022:Genetic Predisposition to Disease; D006801:Humans; D015810:Linkage Disequilibrium; D011110:Polymorphism, Genetic / Q000235:genetics*; D011401:Promoter Regions, Genetic / Q000235:genetics*; D012307:Risk Factors
chemical_list: D001057:Apolipoproteins E; D005819:Genetic Markers; D003546:Cysteine Endopeptidases; C031262:bleomycin hydrolase