The -491A/T polymorphism of the apolipoprotein E gene is associated with the ApoEε4 allele and Alzheimer's Disease

Several studies have attempted to confirm the association between the recently reported polymorphism located at position -491 in the transcriptional regulatory region of the Apolipoprotein E (ApoE) gene and Alzheimer's disease (AD). Results have been inconclusive, possibly due to the use or clinically diagnosed subjects and controls only. In this retrospective case-control study of 149 (96 AD and 53 controls) brain samples we show that homozygosity for the -491A variant is associated with an increased risk of development of AD. The genotype is also strongly associated with the presence of at least one epsilon 4 allele (an established risk factor for AD) in women but not in men. (C) 1999 Elsevier Science Ireland Ltd. All rights reserved.