Neuroimaging PheWAS and molecular phenotyping implicate <i>PSMC3</i> in Alzheimer's Disease.

ABSTRACT:

Introduction

Neuroimaging genetics have advanced Alzheimer's disease (AD) research, yet frameworks mechanistically connecting genes to neurological outcomes via functional genomics are needed to elucidate genetic associations. To address this challenge, we assessed relationships between AD-associated variants and disease via their impact on gene expression and neuroimaging phenotypes.

Methods

We mapped established AD genes to neuroimaging traits using NeuroimaGene atlas and predicted transcript-driven AD neurological features by comparing gene-derived neuroimaging features to clinical neuroimaging data. Genetic correlation and covariance analyses characterized shared genetic architecture between AD endophenotypes and neuroimaging features and identified neuroimaging features

SUBMITTER: Bledsoe X 

PROVIDER: S-EPMC12458493 | biostudies-literature | 2025 Sep

REPOSITORIES: biostudies-literature