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Alzheimer's Disease: Overview01:26

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Genetic polymorphisms in drug targets have emerged as critical determinants of interindividual variability in drug response and toxicity. Pharmacogenomic investigations increasingly focus on identifying these variations to personalize and optimize therapeutic interventions. A drug target may be a receptor, enzyme, or signaling protein involved in pharmacologic responses or disease-related pathways. While early pharmacogenetic studies focused primarily on drug metabolism, current research...
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Related Experiment Video

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Generalized Psychophysiological Interaction PPI Analysis of Memory Related Connectivity in Individuals at Genetic Risk for Alzheimer's Disease
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The algorithm for Alzheimer risk assessment based on APOE promoter polymorphisms.

Anna Limon-Sztencel1, Beata S Lipska-Ziętkiewicz2, Magdalena Chmara2

  • 1Copernicus Hospital, Nowe Ogrody 1-6 Street, 80-803, Gdansk, Poland.

Alzheimer'S Research & Therapy
|May 20, 2016
PubMed
Summary

A novel "preventive score" combining multiple APOE gene polymorphisms may improve Alzheimer disease (AD) risk assessment. This score, based on synergistic effects of single nucleotide polymorphisms, shows potential for enhanced clinical prediction of AD.

Keywords:
APOEAPOE promoter polymorphismsAlzheimer’s diseaseApolipoprotein E isoformsRisk factor

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Area of Science:

  • Genetics
  • Neuroscience
  • Biochemistry

Background:

  • The apolipoprotein E (APOE) gene is a key Alzheimer disease (AD) risk factor, but study discrepancies limit its clinical utility.
  • Current guidelines do not include APOE genotype evaluation for AD diagnosis.
  • This study investigates APOE promoter polymorphisms and allele E genotypes' influence on dementia risk.

Purpose of the Study:

  • To assess the impact of multiple APOE gene polymorphisms in the promoter region on dementia risk.
  • To evaluate the correlation between APOE genotypes and serum apolipoprotein E concentrations.
  • To develop a novel risk assessment approach integrating multiple genetic markers.

Main Methods:

  • Comprehensive analysis of APOE gene polymorphisms in 110 Polish AD patients and 110 controls.
  • Genotyping of four specific APOE polymorphisms: -491A/T, -427T/C, -219T/G, and +113G/C.
  • Calculation of a 'preventive score' based on synergistic effects of individual single-nucleotide polymorphisms.

Main Results:

  • The -219G allele demonstrated a protective effect against AD development.
  • The -491T and -219G alleles were underrepresented in APOE E4 variant carriers.
  • A 'preventive score' was developed, indicating an independent predictive factor for AD risk based on combined polymorphisms.

Conclusions:

  • A new, complex approach to AD risk assessment using the additive effect of multiple APOE promoter polymorphisms is proposed.
  • This method may enhance the informative value of APOE testing in clinical settings.
  • Further validation in large, multi-ethnic cohorts is required to establish clinical utility.