Association of apolipoprotein E genotype and intronic polymorphism of the presenilin-1 gene with Alzheimer's disease in elderly Taiwan Chinese.

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.