Protein-truncating variants in UQCRC1 are associated with Parkinson's disease: evidence from half-million people.

ABSTRACT: Recent studies have suggested a potential but inconsistent link between UQCRC1 and Parkinson's disease (PD). For the first time, we systematically investigated the association between non-synonymous variants in UQCRC1 and PD risk using data from the UK Biobank with half-million participants, which provide evidence supporting the role of UQCRC1 Protein-truncating variants (PTVs) in PD (P = 1.20 × 10^-6, OR = 6.59) and highlight the importance of large-scale population studies in identifying rare genetic risk factors.

SUBMITTER: Jing X 

PROVIDER: S-EPMC12064775 | biostudies-literature | 2025 May

REPOSITORIES: biostudies-literature