Whole-genome sequencing reveals an association between small genomic deletions and an increased risk of developing Parkinson's disease.

ABSTRACT: Single-nucleotide variants (SNVs) associated with Parkinson's disease (PD) have been investigated mainly through genome-wide association studies. However, other genomic alterations, including copy number variations, remain less explored. In this study, we conducted whole-genome sequencing of primary (310 PD patients and 100 healthy individuals) and independent (100 PD patients and 100 healthy individuals) cohorts from the Korean population to identify high-resolution small genomic deletions, gains, and SNVs. Global small genomic deletions and gains were found to be associated with an increased and decreased risk of PD development, respectively. Thirty significant locus deletions were identified in PD, with most being associated with an increased PD risk in both cohorts. Small genomic delet

SUBMITTER: Oh JH 

PROVIDER: S-EPMC10073127 | biostudies-literature | 2023 Mar

REPOSITORIES: biostudies-literature