Relation of apolipoprotein E polymorphism to clinically diagnosed Alzheimer's disease in the Korean population

The gene for human apolipoprotein E (APOE) is found on the long arm of chromosome 19 (19q13.2) and exists in three common allelic forms, epsilon2, epsilon3, and epsilon4. The APOE epsilon4 allele is overrepresented in Alzheimer's disease (AD) and is accepted as a genetic risk factor. Some studies reported a protective effect of the APOE epsilon2 allele for AD. However, there are some ethnic variations in the proportion of different APOE alleles and their relationship to AD. We examine the distribution of APOE alleles from 30 AD patients and 158 controls in Korea. The control subjects were all cognitively intact unrelated Koreans. The frequencies of APOE alleles in AD patients were 18.3% (epsilon2), 58.3% (epsilon3), and 23.3% (epsilon4). The corresponding frequencies in controls were 13.3% (epsilon2), 72.5% (epsilon3), and 14.2% (epsilon4). The frequency of the APOE epsilon2 allele in AD patients was not significantly different from that in controls. When statistical analysis was conducted after the exclusion of the APOE epsilon2 allele, the frequency of the APOE epsilon4 allele in AD patients was significantly higher than that in controls (P < 0.05). These results support that the APOE epsilon4 allele plays a role as a risk factor for AD in Koreans and suggest that the APOE epsilon2 allele may not play a protective role in the development of AD in Koreans.