Montreal Neurological Institute, McGill University, Montréal, Quebec, Canada; Department of Neurology and neurosurgery, McGill University, Montréal, Quebec, Canada.
Molecular Genetics Section, Laboratory of Neurogenetics, NIA, NIH, Bethesda, MD, USA.
Neurobiol Aging. 2021 May;101:297.e1-297.e4. doi: 10.1016/j.neurobiolaging.2020.10.030. Epub 2020 Nov 2.
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.
最近，UQCRC1 中的新型变异 p.Y314S 被认为与帕金森病 (PD) 有关。在本研究中，我们旨在研究 UQCRC1 与欧洲裔大样本队列中 PD 的相关性。我们使用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 14671 例病例和 17667 例对照，以及加速药物合作计划-帕金森病倡议的全基因组测序数据，包括 1647 例 PD 患者和 1050 例对照，来研究 UQCRC1 中的常见和罕见遗传变异。没有常见变异与 PD 持续相关，各种负担分析也没有显示 UQCRC1 中的罕见变异与 PD 之间存在关联。因此，我们的结果不支持 UQCRC1 在欧洲人群中对 PD 有主要作用，需要在其他人群中进行更多研究。
