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Degener Neurol Neuromuscul Dis. 2015 Jun 12;5:9-18. doi: 10.2147/DNND.S41721. eCollection 2015.

Apolipoprotein E ε-4 as a genetic determinant of Alzheimer's disease heterogeneity.

Degenerative neurological and neuromuscular disease

M J Kotze, H K Lückhoff, T Brand, J Pretorius, S J van Rensburg

Affiliations

  1. Division of Anatomical Pathology, Department of Pathology, Faculty of Medicine and Health Sciences, Stellenbosch University, Tygerberg, South Africa.
  2. Division of Chemical Pathology, Department of Pathology, Faculty of Medicine and Health Sciences, Stellenbosch University and the National Health Laboratory Service, Tygerberg Hospital, Tygerberg, South Africa.

PMID: 32669910 PMCID: PMC7337157 DOI: 10.2147/DNND.S41721

Abstract

Alzheimer's disease (AD) displays a high degree of heterogeneity in terms of its etiology, presentation, prognosis, and treatment response. This can partly be explained by high-penetrance mutations in the amyloid precursor protein, presenilin 1 and presenilin 2 genes causing amyloid beta aggregation, which is a major pathogenic mechanism in the development of early-onset AD in a small subgroup of patients. Late-onset AD is considered a polygenic disorder in which cumulative risk resulting from interaction with modifiable environmental risk factors may be responsible for the majority of cases. The ε-4 allele of the apolipoprotein E (

© 2015 Kotze et al.

Keywords: APOE; Alzheimer’s disease; cholesterol; heterogeneity; pharmacogenetics; polymorphism

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