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

IF 6.7 1区医学 Q1 NEUROSCIENCES

NPJ Parkinson's Disease Pub Date : 2025-05-09 DOI:10.1038/s41531-025-00987-0

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

引用次数: 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 × 10⁻⁶, OR = 6.59) and highlight the importance of large-scale population studies in identifying rare genetic risk factors.

查看原文本刊更多论文

UQCRC1蛋白截断变异与帕金森病相关：来自50万人的证据

最近的研究表明，UQCRC1与帕金森病（PD）之间存在潜在但不一致的联系。我们首次系统地研究了UQCRC1非同意变异与PD风险之间的关系，使用来自英国生物银行的50万参与者的数据，提供了支持UQCRC1蛋白截断变异（PTVs）在PD中的作用的证据（P = 1.20 × 10−6,OR = 6.59），并强调了大规模人群研究在识别罕见遗传风险因素方面的重要性。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

求助全文

约1分钟内获得全文求助全文

来源期刊

NPJ Parkinson's Disease Medicine-Neurology (clinical)

CiteScore

9.80

自引率

5.70%

发文量

156

审稿时长

11 weeks

期刊介绍： npj Parkinson's Disease is a comprehensive open access journal that covers a wide range of research areas related to Parkinson's disease. It publishes original studies in basic science, translational research, and clinical investigations. The journal is dedicated to advancing our understanding of Parkinson's disease by exploring various aspects such as anatomy, etiology, genetics, cellular and molecular physiology, neurophysiology, epidemiology, and therapeutic development. By providing free and immediate access to the scientific and Parkinson's disease community, npj Parkinson's Disease promotes collaboration and knowledge sharing among researchers and healthcare professionals.