Polygenic risk score predicts pathologically confirmed cerebral amyloid angiopathy.

ABSTRACT:

Introduction

Cerebral amyloid angiopathy (CAA) and Alzheimer's disease (AD) both involve amyloid beta (Aβ) accumulation in vessels and brain parenchyma, respectively. As Aβ-targeting therapies emerge, CAA draws attention due to its link with amyloid-related imaging abnormalities (ARIA), underscoring the need for biomarkers beyond magnetic resonance imaging (MRI).

Methods

CAA polygenic risk scores (CAA-PRS) were generated in 105 ADNI participants, and their predictive ability for pathological CAA was evaluated, including in subgroups with high amyloid burden or without MRI-visible CAA markers.

Results

CAA-PRS was significantly associated with pathological CAA (OR = 1.766, p < 0.001), with an AUC of 0.783 overall and 0.766 (OR = 1.780, p = 0.002) in those with high amyl

SUBMITTER: Pyun JM 

PROVIDER: S-EPMC12698935 | biostudies-literature | 2025 Dec

REPOSITORIES: biostudies-literature