Genome-wide assessment identifies novel runs of homozygosity linked to Parkinson's disease etiology across diverse ancestral populations.

ABSTRACT:

Objective

We conducted the first large-scale, multi-ancestral investigation of Parkinson's disease (PD) to examine the impact of genome-wide homozygosity on disease risk and age at onset. Using genotyping, imputed, and whole-genome sequencing (WGS) data from 16,599 PD cases and 13,585 controls across nine ancestral populations from the Global Parkinson's Genetics Program, we aimed to identify novel regions of homozygosity contributing to PD heritability.

Methods

We analyzed runs of homozygosity (ROHs) for total length (S_ROH), number (N_ROH), average length (AV_ROH), and genomic inbreeding coefficient (F_ROH). ROHs were intersected with known PD, pallido-pyramidal syndrome, and atypical parkinsonism gene regions and risk loci to assess

SUBMITTER: Step K 

PROVIDER: S-EPMC12140525 | biostudies-literature | 2025 May

REPOSITORIES: biostudies-literature