Recently, a novel variant p.Y314S in UQCRC1 has been implicated as pathogenic in Parkinson's disease (PD). In the present study, we aimed to examine the association of UQCRC1 with PD in large cohorts of European origin. We examined common and rare genetic variation in UQCRC1 using genome-wide association study data from the International Parkinson Disease Genomics Consortium, including 14,671 cases and 17,667 controls, and whole-genome sequencing data from the Accelerating Medicines Partnership-Parkinson's disease initiative, including 1647 patients with PD and 1050 controls. No common variants were consistently associated with PD, and a variety of burden analyses did not reveal an association between rare variants in UQCRC1 and PD. Therefore, our results do not support a major role for UQCRC1 in PD in the European population, and additional studies in other populations are warranted.

中文翻译：

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缺乏证据表明 UQCRC1 与欧洲人的帕金森病有关

最近，UQCRC1 中的一种新型变体 p.Y314S 被认为是帕金森病 (PD) 的致病因素。在本研究中，我们旨在检查欧洲血统的大型队列中 UQCRC1 与 PD 的关联。我们使用来自国际帕金森病基因组学联盟的全基因组关联研究数据（包括 14,671 例病例和 17,667 名对照）以及来自加速药物伙伴关系-帕金森病倡议的全基因组测序数据（包括 1647 名患者）检查了 UQCRC1 中常见和罕见的遗传变异带 PD 和 1050 控制。没有常见的变异始终与 PD 相关，并且各种负担分析并未揭示 UQCRC1 中的罕见变异与 PD 之间的关联。因此，我们的结果不支持 UQCRC1 在欧洲人群 PD 中的主要作用，