Is ApoE ɛ 4 a good biomarker for amyloid pathology in late onset Alzheimer's disease?

Transl Neurodegener. 2016 Nov 16;5:20. doi: 10.1186/s40035-016-0067-z. eCollection 2016.


Amyloid plaques are pathological hallmarks of Alzheimer's Disease (AD) and biomarkers such as cerebrospinal fluid (CSF) β-amyloid 1-42 (Aβ1-42) and amyloid positron emission tomographic (PET) imaging are important in diagnosing amyloid pathology in vivo. ɛ4 allele of the Apolipoprotein E gene (ApoE ɛ 4), which is a major genetic risk factor for late onset AD, is an important genetic biomarker for AD pathophysiology. It has been shown that ApoE ɛ 4 is involved in Aβ deposition and formation of amyloid plaques. Studies have suggested the utility of peripheral blood ApoE ɛ 4 in AD diagnosis and risk assessment. However it is still a matter of debate whether ApoE ɛ 4 status would improve prediction of amyloid pathology and represent a cost-effective alternative to amyloid PET or CSF Aβ in resource-limited settings in late onset AD. Recent research suggest that the mean prevalence of PET amyloid-positivity is 95% in ApoE ɛ 4-positive AD patients. This short review aims to provide an updated information on the relationship between ApoE ɛ 4 and amyloid biomarkers.

Keywords: Alzheimer’s disease; Amyloid; Apolipoprotein E ɛ4.

Publication types

  • Review