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

UQCRC1基因中的蛋白质截短变异与帕金森病相关:来自50万人的证据

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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.

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