The -491 polymorphism in the promoter region of the apolipoprotein E gene (APOE) has been suggested to be associated with increased risk for Alzheimer's disease (AD) independent of APOE status. We studied the association between the -491 polymorphism and risk for early-onset Alzheimer's disease in 99 Dutch and 78 Spanish patients. In patients with early-onset AD, we found no consistent relationship with a single allele of the -491 polymorphism. Linkage disequilibrium between the polymorphism and the APOE gene was found which most likely might explain the inconsistent findings.

*Point Mutation, *Polymorphism (Genetics), *Regulatory Sequences, Nucleic Acid, 0 (Apolipoproteins E), Age of Onset, Alleles, Alzheimer Disease/*epidemiology/*genetics, Apolipoproteins E/*genetics, Chromosomes, Human, Pair 19/genetics, Gene Frequency, Genetic Screening, Genotype, Human, Linkage (Genetics), Linkage Disequilibrium, Middle Aged, Support, Non-U.S. Gov't, dementia,
Neuroscience Letters
Erasmus MC: University Medical Center Rotterdam

Roks, C.M.A.A, Cruts, M, Bullido, M.J, Backhovens, H, Artiga, M.J, Hofman, A, … van Duijn, C.M. (1998). The -491 A/T polymorphism in the regulatory region of the apolipoprotein E gene and early-onset Alzheimer's disease. Neuroscience Letters, 258(2), 65–68. doi:10.1016/S0304-3940(98)00857-X