Genome-wide association studies identify genetic determinants of synucleinopathy biomarkers.

ABSTRACT:

Objective

α-synucleinopathies are clinically and biologically heterogeneous disorders lacking reliable biomarkers to assist with early diagnosis, disease progression, patient stratification, and therapeutic targeting. Genetic variation is known to impact biomarker levels, influencing their utility and interpretation in research and clinical settings. We aimed to identify common genetic modulators of biomarker levels implicated in α-synucleinopathy pathogenesis.

Methods

Genome-wide association studies (GWASs) were conducted on 63 CSF, plasma, and urine biomarkers in 581 individuals from the Parkinson's Progression Markers Initiative (PPMI). Analyses were adjusted for age, sex, disease status, and principal components. PD- and DLB-risk loci associations were separately assesse

SUBMITTER: Somerville EN 

PROVIDER: S-EPMC12772658 | biostudies-literature | 2025 Dec

REPOSITORIES: biostudies-literature