The −491 TT apolipoprotein E promoter polymorphism is associated with reduced risk for sporadic Alzheimer's disease

• Published in: Neuroscience letters 2001-05, Vol.304 (3), p.204-208
• Main Authors: Alvarez-Arcaya, Amaya, Combarros, Onofre, Llorca, Javier, Sánchez-Guerra, Marisa, Berciano, José, Fernández-Luna, José Luis
• Format: Article
• Language: English
• Subjects: 491 A/T polymorphism; Adult; Aged; Aged, 80 and over; Alleles; Alzheimer Disease - genetics; Alzheimer's disease; Apolipoprotein E; Apolipoproteins E - genetics; Biological and medical sciences; Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases; Female; Gene Frequency; Genetic Predisposition to Disease; Genotype; Homozygote; Humans; Male; Medical sciences; Middle Aged; Neurology; Odds Ratio; Polymorphism, Genetic - physiology; Polymorphisms; Promoter Regions, Genetic - genetics; Reference Values
• ISSN: 0304-3940; 1872-7972
• DOI: 10.1016/S0304-3940(01)01790-6

Homozygosity for the A allele of the −491 A/T apolipoprotein E (APOE) promoter polymorphism has recently been reported to be associated with sporadic Alzheimer's disease (AD). Two hundred and fifty one patients with AD and an equal number of controls derived from the same region in a Spanish population, were genotyped for −491 A/T and ε2/ ε3/ ε4 APOE polymorphisms. We did not detect an elevated −491 AA genotype frequency when comparing AD cases to controls. In contrast, persons homozygous for the T allele were at a significantly reduced risk of AD (odds ratio of 0.10, P=0.006). Multiple logistic regression analysis indicated that the −491 TT polymorphism added information on the risk of AD which was independent of that of the APOE ε4 allele.