Protein-truncating variants in UQCRC1 are associated with Parkinson's disease: evidence from half-million people.
NPJ Parkinson's disease 2025 ; 11: 120.
Jing X, Liu Z, Li W, Ma K, Zhang J, Yan Z, Zhang S, Lin J, Zhao J, Ong KK, Perry JRB, Zhao Y
DOI : 10.1038/s41531-025-00987-0
PubMed ID : 40346065
PMCID : PMC12064775
URL : https://www.nature.com/articles/s41531-025-00987-0
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, OR = 6.59) and highlight the importance of large-scale population studies in identifying rare genetic risk factors.