Alzheimer's polygenic risk scores are associated with cognitive phenotypes in Down syndrome.

ABSTRACT:

Introduction

This study aimed to investigate the influence of the overall Alzheimer's disease (AD) genetic architecture on Down syndrome (DS) status, cognitive measures, and cerebrospinal fluid (CSF) biomarkers.

Methods

AD polygenic risk scores (PRS) were tested for association with DS-related traits.

Results

The AD risk PRS was associated with disease status in several cohorts of sporadic late- and early-onset and familial late-onset AD, but not in familial early-onset AD or DS. On the other hand, lower DS Mental Status Examination memory scores were associated with higher PRS, independent of intellectual disability and APOE (PRS including APOE, PRS_APOE , p = 2.84 × 10^-4 ; PRS excluding APOE, PRS_nonAPOE , p = 1.60 × 10^-2 ).

SUBMITTER: Gorijala P 

PROVIDER: S-EPMC10916941 | biostudies-literature | 2024 Feb

REPOSITORIES: biostudies-literature