As a part of the WHO Age-Associated Dementia Project, Chile has been participating in a cross-national survey on dementia frequency and determinants since 1989. In the present study, apolipoprotein E (ApoE) polymorphism genotypes have been compared in 95 patients with Alzheimer's disease (AD) (mean age 80.7; 95% CI 79.2-82.2, range 66-97) and 187 healthy people (mean age 78.2; 95% CI 77.2-79.2, range 65-93). Isoelectric focusing and immunoblotting with anti-human ApoE polyclonal antibody were used to determine the distribution of ApoE genotypes. Dementia was diagnosed according to DSM-III-R and ICD-10 clinical criteria. The diagnosis of probable or possible AD was made according to the NINCDS-ADRDA criteria. The ApoE allele frequencies in healthy people were calculated to be epsilon2 = 0.07, epsilon3 = 0.74 and epsilon4 = 0.19. In the probable AD disease group, the frequencies were epsilon2 = 0.08, epsilon3 = 0.52 and epsilon4 = 0.40. The odds ratio (OR) for epsilon4 carriers compared with non-epsilon4 carriers was estimated to be 2.9 (95% CI 1.7-5.1). Taking the genotype epsilon3/epsilon3 as the reference group, the OR for the epsilon4/epsilon4 genotype was estimated to be 12.8 (95% CI 3.9-47.6) and for epsilon3/epsilon4 subjects it was 2.4 (1.3-4.5). These results support the association between ApoE epsilon4 allele with late-onset AD in a Chilean population.