title: No association of presenilin-1 intronic polymorphism and Alzheimer's disease in Australia.
abstract: We screened 703 Australian subjects for an intronic polymorphism in the presenilin-1 (PS-1) gene. PS-1 intronic allele 1 homozygosity was not associated with individuals with early- or late-onset sporadic Alzheimer's disease (EOAD or LOAD). Carriers for the PS-1 intronic allele 1 were also not associated with significantly increased risk for AD regardless of gender. Our results for the Australian population are consistent with those of recent reports for other populations and do not support the conclusion that the PS-1 intronic polymorphism is associated with AD.
authors.affiliation: Department of Surgery, University of Western Australia, Hollywood Private Hospital, Nedlands, Perth, Australia.
authors.forename: K
authors.initials: K
authors.lastname: Taddei
authors.forename: D
authors.initials: D
authors.lastname: Yang
authors.forename: C
authors.initials: C
authors.lastname: Fisher
authors.forename: R
authors.initials: R
authors.lastname: Clarnette
authors.forename: J
authors.initials: J
authors.lastname: Hallmayer
authors.forename: R
authors.initials: R
authors.lastname: Barnetson
authors.forename: R
authors.initials: R
authors.lastname: Maller
authors.forename: W S
authors.initials: WS
authors.lastname: Brooks
authors.forename: S
authors.initials: S
authors.lastname: Whyte
authors.forename: G A
authors.initials: GA
authors.lastname: Nicholson
authors.forename: C L
authors.initials: CL
authors.lastname: Masters
authors.forename: G A
authors.initials: GA
authors.lastname: Broe
authors.forename: S E
authors.initials: SE
authors.lastname: Gandy
authors.forename: R N
authors.initials: RN
authors.lastname: Martins
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D000544:Alzheimer Disease / Q000235:genetics*; D053327:Apolipoprotein E4; D001057:Apolipoproteins E / Q000235:genetics; D001315:Australia; D004247:DNA / Q000032:analysis; D004252:DNA Mutational Analysis / Q000706:statistics & numerical data; D005260:Female; D005787:Gene Frequency; D008040:Genetic Linkage; D005820:Genetic Testing; D005838:Genotype; D006801:Humans; D007438:Introns / Q000235:genetics*; D007962:Leukocytes / Q000737:chemistry; D016015:Logistic Models; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D011110:Polymorphism, Genetic; D053764:Presenilin-1
chemical_list: D053327:Apolipoprotein E4; D001057:Apolipoproteins E; D008565:Membrane Proteins; C508853:PSEN1 protein, human; D053764:Presenilin-1; D004247:DNA