| Title: | Protein-truncating variants in UQCRC1 are associated with Parkinson's disease: evidence from half-million people |
| Journal: | npj Parkinson's Disease |
| Published: | 9 May 2025 |
| Pubmed: | https://pubmed.ncbi.nlm.nih.gov/40346065/ |
| DOI: | https://doi.org/10.1038/s41531-025-00987-0 |
| URL: | https://www.nature.com/articles/s41531-025-00987-0.pdf |
Publication 15389
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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.</p>
12 Authors
- Xiaoxi Jing
- Zongzhi Liu
- Wenwen Li
- Kaiyan Ma
- Jiaxiang Zhang
- Zeqi Yan
- Shuo Zhang
- Jiecong Lin
- Junpeng Zhao
- Ken K. Ong
- John R. B. Perry
- Yajie Zhao
Enabling scientific discoveries that improve human health