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

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

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年5月9日

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  • 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

摘要

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.