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The role of the −427T/C apolipoprotein E promoter polymorphism in the pathogenesis of Alzheimer’s disease, vascular dementia and mixed dementia

  • Alzheimer's Disease and Related Disorders - Original Article
  • Published:
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Abstract

In this work, we explored the existence of genetic variant within the apolipoprotein E gene transcriptional regulatory region. Upon a population study, three polymorphic sites (−491, −427 and −219) and two mutations were found. We investigated newly reported −427T/C promoter polymorphism in association with sporadic Alzheimer’s disease (AD), vascular (VD) and mixed dementia (MD) along with APOE genotype and gender. Observed polymorphisms were investigated in 267 subjects, 122 of them formed a control group, the group of patients consisted of 145 subjects. Sixty patients were diagnosed with AD, 41 patients were diagnosed with VD and 35 patients left were diagnosed with MD in Slovak Caucasians (Central Europe). Gene–gene interaction analysis showed increase of the risk to develop AD in subjects carrying both the at least one C allele and the APOE E4 allele (OR = 17.93, 95%CI = 3.50–171.54).

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Abbreviations

AD:

Alzheimer’s disease

APOE:

Apolipoprotein E

CI:

Confidence interval

MD:

Mixed dementia

OR:

Odds ratio

VD:

Vascular dementia

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Acknowledgment

The study was supported by the grant VEGA 1/2319/05 of the Ministry of education of the Slovak Republic.

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Authors and Affiliations

  1. Department of Medical Biophysics, Faculty of Medicine, P.J.Šafárik University, Kosice, Slovakia

    Marianna Trebuňová

  2. Department of Medical Biology, Faculty of Medicine, P.J.Šafárik University, Kosice, Slovakia

    Eva Slabá & Viera Habalová

  3. Department of Neurology, Faculty of Medicine, P.J.Šafárik University, Kosice, Slovakia

    Zuzana Gdovinová

Authors
  1. Marianna Trebuňová
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  2. Eva Slabá
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  3. Viera Habalová
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  4. Zuzana Gdovinová
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Correspondence to Eva Slabá.

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Trebuňová, M., Slabá, E., Habalová, V. et al. The role of the −427T/C apolipoprotein E promoter polymorphism in the pathogenesis of Alzheimer’s disease, vascular dementia and mixed dementia. J Neural Transm 116, 339–344 (2009). https://doi.org/10.1007/s00702-008-0178-5

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  • DOI: https://doi.org/10.1007/s00702-008-0178-5

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