Protein-truncating variants in UQCRC1 are associated with Parkinson’s disease: evidence from half-million people
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<sup>-6</sup>, OR = 6.59) and highlight the importance of large-scale population studies in identifying rare genetic risk factors.
Authors
- Zongzhi Liu (ORCID: https://orcid.org/0000-0003-1578-9967)
- Jiecong Lin (ORCID: https://orcid.org/0000-0003-3347-837X)
- John R. B. Perry (ORCID: https://orcid.org/0000-0001-6483-3771)
- K. Ma
- Yajie Zhao (ORCID: https://orcid.org/0000-0002-2747-0219)
- Zhihui Yan (ORCID: https://orcid.org/0000-0003-3367-7125)
- Xiaoxi Jing
- Shuo Zhang (ORCID: https://orcid.org/0000-0003-2213-3624)
- Wen Li (ORCID: https://orcid.org/0000-0002-3756-4243)
- Jiaxiang Zhang
- Ken K Ong
- Junpeng Zhao
Institutions
- Capital Medical University (CN)
- University of Cambridge (GB)
- National Clinical Research Center for Digestive Diseases (CN)
- Wellcome/MRC Institute of Metabolic Science (GB)
- Science & Technology Park (Czechia) (CZ)
- MRC Epidemiology Unit (GB)
Publication Details
- Journal
- npj Parkinson s Disease
- Published
- 2025-05-09
- DOI
- https://doi.org/10.1038/s41531-025-00987-0
- Citations
- 2
- Primary Topic
- Genetics and Neurodevelopmental Disorders
- Type
- article
- Field-Weighted Citation Impact
- 3.63
Funders
- Medical Research Council