The -491A/T polymorphism of the apolipoprotein E gene is associated with the ApoE epsilon 4 allele and Alzheimer's Disease

Several studies have attempted to confirm the association between the recen tly reported polymorphism located at position -491 in the transcriptional r egulatory region of the Apolipoprotein E (ApoE) gene and Alzheimer's diseas e (AD). Results have been inconclusive, possibly due to the use or clinical ly diagnosed subjects and controls only. In this retrospective case-control study of 149 (96 AD and 53 controls) brain samples we show that homozygosi ty for the -491A variant is associated with an increased risk of developmen t of AD. The genotype is also strongly associated with the presence of at l east 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.