ApoE -491A/T promoter polymorphism is not an independent risk factor, but associated with the ε4 allele in Hungarian Alzheimer's dementia population

Anna Juhász, András Palotás, Zoltán Janka, Ágnes Rimanóczy, Miklós Palotás, Nikoletta Bódi, Krisztina Boda, Marianna Zana, Gábor Vincze, János Kálmán

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Apolipoprotein E gene (Apoε) has three common alleles (ε2, ε3, and ε4), of which ε4 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 ε4 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 ε4 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.

Original languageEnglish
Pages (from-to)591-596
Number of pages6
JournalNeurochemical research
Issue number5
Publication statusPublished - May 1 2005



  • Alzheimer's disease
  • ApoE promoter
  • Apolipoprotein E
  • Genetic risk factor
  • Hungarian population

ASJC Scopus subject areas

  • Biochemistry
  • Cellular and Molecular Neuroscience

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