Apolipoprotein E proteotyping as a valid alternative to genotyping in clinical practice

Abstract

The apolipoprotein E ε4 allele (APOE ε4) is associated with higher incidence of amyloid-related imaging abnormalities in patients with Alzheimer's disease undergoing anti-amyloid therapy, underscoring the importance of allele status testing. In this study, plasma ApoE4 levels were measured in 70 participants using Lumipulse^®G Pan-ApoE and ApoE4 assays and compared with traditional genotyping. ApoE4 concentrations and ratio ApoE4/Pan-ApoE differed significantly across non-ε4, ε3/ε4, and ε4/ε4 groups. No correlation was observed with age, sex, creatinine levels, or AD cerebrospinal fluid biomarkers. Diagnostic performance was excellent, indicating that proteotyping of ApoE can accurately classify the main APOE haplotypes.