title: No association between the intronic presenilin-1 polymorphism and Alzheimer's disease in clinic and population-based samples.
abstract: Mutations in the Presenilin 1 (PS1) gene on chromosome 14 cause most early-onset familial Alzheimer's disease (AD). An intronic polymorphism in the PS1 gene was recently identified and reported to be associated with late-onset AD [Wragg et al., Lancet 347: 509-512, 1996]. The authors found an excess of homozygotes for the more common allele (allele 1) in AD cases, associated with an approximate doubling of risk. In the present study, we report the PS1 polymorphism distributions in clinic and population-based samples. We were not able to replicate the findings of Wragg et al. [1996]. Our results are consistent with those of other researchers and do not support the conclusion that the PS1 polymorphism is associated with late-onset AD.
authors.affiliation: Roskamp Laboratories, Department of Psychiatry, University of South Florida, Tampa 33613, USA.
authors.forename: X
authors.initials: X
authors.lastname: Cai
authors.forename: J
authors.initials: J
authors.lastname: Stanton
authors.forename: D
authors.initials: D
authors.lastname: Fallin
authors.forename: J
authors.initials: J
authors.lastname: Hoyne
authors.forename: R
authors.initials: R
authors.lastname: Duara
authors.forename: M
authors.initials: M
authors.lastname: Gold
authors.forename: S
authors.initials: S
authors.lastname: Sevush
authors.forename: P
authors.initials: P
authors.lastname: Scibelli
authors.forename: F
authors.initials: F
authors.lastname: Crawford
authors.forename: M
authors.initials: M
authors.lastname: Mullan
mesh_terms: D000483:Alleles; D000544:Alzheimer Disease / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D007438:Introns; D008565:Membrane Proteins / Q000235:genetics*; D011110:Polymorphism, Genetic; D053764:Presenilin-1
chemical_list: D008565:Membrane Proteins; C508853:PSEN1 protein, human; D053764:Presenilin-1