Genotype-phenotype interaction in Alzheimer's disease immune activation.

ABSTRACT:

Introduction

Alzheimer's disease (AD) is a neurodegenerative disorder influenced by genetic factors, particularly related to immune activation. This study examines genotype-phenotype interactions affecting immune responses in AD as a reaction to neurodegeneration.

Methods

We computed AD polygenic risk scores (PRSs) informed by shared AD-autoimmunity genetics (AD PRS_INFL), AD-independent immune activation score from 10 autoimmune diseases (sum PRS_IMMUNE), and standard AD PRSs for 294 individuals. Cerebrospinal fluid (CSF) immune markers (sTREM2, clusterin, fractalkine, and chitinase 3 like protein (YKL-40)) were regressed on PRSs, and their interaction with neurodegeneration markers (total tau [t-tau] or neurofilament light chain [NfL]).

Results

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SUBMITTER: Knudtzon S 

PROVIDER: S-EPMC12789877 | biostudies-literature | 2026 Jan

REPOSITORIES: biostudies-literature