title: Association between a PS-1 intronic polymorphism and late onset Alzheimer's disease.
abstract: Previous work suggests an association between allele 1 and the 1-1 genotype of an intronic polymorphism in the presenilin-1 (PS-1) gene and late onset Alzheimer's disease. We found an excess of the 1-1 genotype in our late onset clinical sample (p = 0.006, one-tailed) but not in our postmortem confirmed sample, which instead exhibited an excess of allele 1 (p = 0.02, one-tailed). No interaction between PS-1 and ApoE genotype was detected and the findings remained significant when the effects of ApoE were taken into account (p = 0.03, one-tailed). These results suggest that the PS-1 polymorphism, or a locus in linkage disequilibrium with it, acts as a risk factor for late onset AD.
authors.affiliation: Institute of Medical Genetics, University of Wales College of Medicine, Cardiff, UK.
authors.forename: P
authors.initials: P
authors.lastname: Kehoe
authors.forename: J
authors.initials: J
authors.lastname: Williams
authors.forename: P
authors.initials: P
authors.lastname: Holmans
authors.forename: M
authors.initials: M
authors.lastname: Liddell
authors.forename: S
authors.initials: S
authors.lastname: Lovestone
authors.forename: C
authors.initials: C
authors.lastname: Holmes
authors.forename: J
authors.initials: J
authors.lastname: Powell
authors.forename: J
authors.initials: J
authors.lastname: Neal
authors.forename: G
authors.initials: G
authors.lastname: Wilcock
authors.forename: M J
authors.initials: MJ
authors.lastname: Owen
mesh_terms: D017668:Age of Onset; D000368:Aged; D000483:Alleles; D000544:Alzheimer Disease / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology; D001057:Apolipoproteins E / Q000235:genetics; D005190:Family; D005260:Female; D005838:Genotype; D006801:Humans; D007438:Introns; D015810:Linkage Disequilibrium; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D011110:Polymorphism, Genetic; D053764:Presenilin-1; D012044:Regression Analysis; D012307:Risk Factors
chemical_list: D001057:Apolipoproteins E; D008565:Membrane Proteins; C508853:PSEN1 protein, human; D053764:Presenilin-1