What is the role of apolipoprotein E (APOE) genotyping in the evaluation of Alzheimer disease (AD)?

Updated: May 09, 2019
  • Author: Shaheen E Lakhan, MD, PhD, MS, MEd; Chief Editor: Jasvinder Chawla, MD, MBA  more...
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Investigators from the Copenhagen General Population Study and the Copenhagen City Heart Study have reported that plasma levels of APOE epsilon 4 (APOE ε4) are associated with the risk of dementia, independent of the APOE genotype. [96, 97] The risk of Alzheimer disease increased with decreasing levels of APOE levels, with a highly significant 3-fold increased risk for the lowest tertile of APOE levels relative to the highest tertile—an association that remained even after adjusting for the APOE genotype. [96, 97] The APOE genotypes with highest risks of Alzheimer disease were ε43 and ε44, whereas those with the lowest risks were ε22, ε32, ε42, and ε33. [97]

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