title: Association of apolipoprotein E genotype and intronic polymorphism of the presenilin-1 gene with Alzheimer's disease in elderly Taiwan Chinese.
abstract: We studied the apoliprotein E (apo-E) allele frequencies and intronic polymorphism of the presenilin-1 (PS-1) gene in 55 patients with late-onset Alzheimer's disease (AD) and 93 age- and sex-matched controls. The apoE epsilon4 allele frequency was significantly higher in the AD group than in the control group (0.255 versus 0.070, P<0.0001). The odds ratio for AD in individuals with either one or two epsilon4 alleles was 5.22 (95% confidence interval: 2.32-11.70). The polymorphism within the region composing intron 3' to exon 8 of the PS-1 gene showed a similar distribution between AD patients and controls. This is the first study on the intronic polymorphism of the PS-1 gene in Chinese. Our results support an association between apoE epislon4 and AD in Chinese, but not between the intronic polymorphism of the PS-1 gene and AD. However, the allele frequency of apo-E epsilon4 among Chinese is lower than that among Caucasians. The interaction between apo-E and PS-1 genotypes is still unclear.
authors.affiliation: The Department of Neurology, Taipei Municipal Jen-Ai Hospital, Taiwan.
authors.forename: C J
authors.initials: CJ
authors.lastname: Hu
authors.forename: S M
authors.initials: SM
authors.lastname: Sung
authors.forename: H C
authors.initials: HC
authors.lastname: Liu
authors.forename: J G
authors.initials: JG
authors.lastname: Chang
mesh_terms: D000368:Aged; D000544:Alzheimer Disease / Q000097:blood / Q000235:genetics*; D001057:Apolipoproteins E / Q000097:blood / Q000235:genetics*; D044466:Asian People / Q000235:genetics; D005260:Female; D005838:Genotype; D006801:Humans; D007438:Introns; D008297:Male; D008565:Membrane Proteins / Q000097:blood / Q000235:genetics*; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D053764:Presenilin-1; D013624:Taiwan / Q000453:epidemiology
chemical_list: D001057:Apolipoproteins E; D008565:Membrane Proteins; C508853:PSEN1 protein, human; D053764:Presenilin-1