Neuroimaging PheWAS and molecular phenotyping implicate PSMC3 in Alzheimer's disease.

ABSTRACT:

Introduction

Neuroimaging genetics has advanced our understanding of Alzheimer's disease (AD); however, frameworks using functional genomics are needed to elucidate mechanisms connecting loci to neurological outcomes. To address this need, we explored relationships between AD-associated variants and disease via their impact on gene expression and neuroanatomical phenotypes.

Methods

We mapped established AD genes to neuroimaging traits using the NeuroimaGene Atlas and predicted transcript-driven neurological features of AD by comparing gene-derived neuroimaging features with clinical neuroimaging data. Genetic covariance analyses were performed to characterize shared genetic architecture between AD endophenotypes and neuroimaging features, and to identify neuroimaging feature

SUBMITTER: Bledsoe X 

PROVIDER: S-EPMC12930104 | biostudies-literature | 2026 Feb

REPOSITORIES: biostudies-literature