Polygenic Risk Score Combined with Transcranial Sonography Refines Parkinson's Disease Risk Prediction.

ABSTRACT:

Background

Dopaminergic neuron depletion in the substantia nigra (SN) and the pathological aggregation of α-synuclein are the neuropathological hallmarks of Parkinson's disease (PD).

Objectives

This study aimed to investigate the association between the polygenic risk score for PD (PD-PRS) and transcranial sonography (TCS)-measured SN hyperechogenicity to enhance the accuracy of PD susceptibility prediction.

Methods

PD-PRSs were calculated for over 41,000 Estonian Biobank participants age 55+ years without a PD diagnosis. Participants in the highest and lowest PD-PRS percentiles (n = 222) underwent TCS measurements and Sniffin' sticks olfactory testing. A multivariable logistic regression model was used to examine the associations between PD-PRS, risk and prodromal ma

SUBMITTER: Kals M 

PROVIDER: S-EPMC12274997 | biostudies-literature | 2025 Jul

REPOSITORIES: biostudies-literature