Title:Assessment of apolipoprotein E genotype for β-amyloid status prediction
Volume: 18
Issue: 13
关键词:
阿尔茨海默病，载脂蛋白 E，诊断，淀粉样蛋白，筛查，β-淀粉样蛋白。
摘要: Background: Apolipoprotein E (ApoE) is the major genetic risk factor for sporadic
Alzheimer's Disease (AD). Some studies showed a relationship between ApoE4 genotype and the
cerebrospinal fluid (CSF) biomarkers (β-amyloid42, p-Tau, t-Tau), as well as with cognitive status.
In this sense, it could be interesting to develop an approach to establish amyloid status in a minimally
invasive way.
Methods: The present study assessed the ApoE genotype in different participant groups (mild cognitive
impairment due to AD (MCI-AD), mild/moderate dementia due to AD, MCI not due to AD
(MCI not AD), other neurological diseases, healthy participants) (n = 342).
Results: As expected, the ApoE4 allele was more prevalent in AD patients, characterized by impairment
in CSF β-amyloid42 levels (Aβ +), than in the other groups (Aβ -). In this sense, ApoE4-carrier
subjects showed lower CSF levels for β-amyloid42 and higher CSF levels for t-Tau and p-Tau.
From this, a multivariate model to predict Aβ status was developed by means of partial least square
analysis (PLS) and predictive variables (ApoE genotype, cognitive score, sex, age). This model
showed suitable AUC-ROC 0.792 (95% CI, 0.744-0.840) and predictive negative value (81.6%).
Conclusion: ApoE genotype could be useful in detecting CSF β-amyloid42 impairment associated
with early AD development.
