title: Presenilin-1 intron 8 polymorphism is not associated with autopsy-confirmed late-onset Alzheimer's disease.
abstract: Mutations in the presenilin-1 (PS-1) gene may account for the majority of familial early-onset Alzheimer's disease (EOAD) cases. However, there is controversy as to whether the bi-allelic intron 8 PS-1 polymorphism plays a role in late-onset AD (LOAD). As previous association studies with this polymorphism have all investigated clinically diagnosed LOAD cases, we have analysed the frequency of the PS-1 intronic polymorphism in a series of autopsy-confirmed early- (n = 54) and late-onset (n = 199) cases and a large control population of non-demented, aged individuals (n = 215). Our sample size should have had the power to reveal effects of the size previously reported for the PS-1 polymorphism, but we detected no significant increase in the 1/1 risk genotype distribution in EOAD or LOAD cases. Thus, we have been unable to find an association between the PS-1 intronic polymorphism and early- or late-onset AD within this autopsy-confirmed population.
authors.affiliation: East Anglian Regional Genetics Service Moleculor Genetics Laboratory, Cambridge, UK.
authors.forename: C
authors.initials: C
authors.lastname: Tysoe
authors.forename: J
authors.initials: J
authors.lastname: Whittaker
authors.forename: N J
authors.initials: NJ
authors.lastname: Cairns
authors.forename: P F
authors.initials: PF
authors.lastname: Atkinson
authors.forename: C R
authors.initials: CR
authors.lastname: Harrington
authors.forename: J
authors.initials: J
authors.lastname: Xuereb
authors.forename: G
authors.initials: G
authors.lastname: Wilcock
authors.forename: D C
authors.initials: DC
authors.lastname: Rubinsztein
mesh_terms: D017668:Age of Onset; D000368:Aged; D000544:Alzheimer Disease / Q000235:genetics* / Q000378:metabolism; D005260:Female; D005838:Genotype; D006801:Humans; D007438:Introns / Q000235:genetics*; D008297:Male; D008565:Membrane Proteins / Q000235:genetics* / Q000378:metabolism; D011110:Polymorphism, Genetic / Q000235:genetics*; D053764:Presenilin-1
chemical_list: D008565:Membrane Proteins; C508853:PSEN1 protein, human; D053764:Presenilin-1