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Updated: May 13, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Protein-truncating variants in UQCRC1 are associated with Parkinson's disease: evidence from half-million people
Xiaoxi Jing1, Zongzhi Liu1, Wenwen Li2
1Changping Laboratory, Yard-28, Science Park Road, Changping District, Beijing, P. R. China.
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.
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