APOE genotype in the diagnosis of Alzheimer's disease in patients with cognitive impairment

Xiaoyan Sun, Joyce Nicholas, Aljoeson Walker, Mark T. Wagner, David Bachman

Research output: Contribution to journalReview articlepeer-review

14 Scopus citations


Background: Although an association between the apolipoprotein E (APOE) e4 allele and increased risk of Alzheimers disease (AD) is established, the utility of APOE genotyping in the clinical diagnosis of AD is still under investigation. Methods: Medical records of 89 patients with cognitive impairment and APOE genotype data underwent a retrospective review. Results: Comparison of age, age at onset, education, Mini-Mental State Examination, months of follow-up, and family history of dementia did not reveal statistical difference among the patients with different APOE genotypes. The APOE ε4 carriers had a higher percentage of AD diagnoses after a median 16 months follow-up than non-APOE ε4 carriers. The APOE e4 designation had a high sensitivity and high positive predictive value for the diagnosis of AD but a low negative predictive value and specificity. Conclusions: The APOE genotyping may be helpful in diagnosing AD especially in patients presenting with atypical features or early age of onset of dementia.

Original languageEnglish (US)
Pages (from-to)315-320
Number of pages6
JournalAmerican Journal of Alzheimer's Disease and other Dementias
Issue number5
StatePublished - Aug 2012
Externally publishedYes


  • APOE
  • APOE ?4
  • Alzheimer's disease
  • positive predictive value
  • sensitivity

ASJC Scopus subject areas

  • Neuroscience(all)
  • Clinical Psychology
  • Geriatrics and Gerontology
  • Psychiatry and Mental health


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