ApoE -491A/T Promoter Polymorphism is not an Independent Risk Factor, but Associated with the [straight epsilon]4 Allele in Hungarian Alzheimer's Dementia Population

• Published in: Neurochemical research Vol. 30; no. 5; p. 591
• Main Authors: Juhász, Anna, Palotás, András, Janka, Zoltán, Rimanóczy, Ágnes, Palotás, Miklós, Bódi, Nikoletta, Boda, Krisztina, Zana, Marianna, Vincze, Gábor, Kálmán, János
• Format: Journal Article
• Language: English
• Published: New York Springer Nature B.V 01.05.2005
• ISSN: 0364-3190; 1573-6903
• DOI: 10.1007/s11064-005-2745-6

Apolipoprotein E gene (Apo[straight epsilon]) has three common alleles ([straight epsilon]2, [straight epsilon]3, and [straight epsilon]4), of which [straight epsilon]4 has been shown to be associated with an increased risk for Alzheimer's disease (AD). Possible additional genetic factors, like the -491A variant of ApoE promoter may modify the development of AD, independently of the ApoE allele status. The objective of this study was to investigate whether A/T allelic polymorphism at site-491 of the ApoE promoter is associated with AD in a Hungarian population. The genomic DNA isolated from peripheral blood lymphocytes of 52 late-onset AD and 53 control individuals was used as a template for the two examined polymorphisms and PCR assay was applied. The [straight epsilon]4 allele was significantly over-represented in the AD group (28%) as compared with the control population (7%). No significant differences have been found between the control and the AD populations regarding the occurrence of the promoter A allele frequencies (control: 77%, AD: 70%). However, the AA genotype was more frequent in the AD group (48%) than in the control (10%) when the presence of [straight epsilon]4 allele was also considered. It is unlikely therefore that the -491A variant of the ApoE promoter gene is an independent risk factor in the Hungarian AD population, but a linkage disequilibrium exists between the two examined mutations.