Parkinson's disease (PD) is a complex neurodegenerative disorder in which both rare and common genetic variants contribute to disease risk. Multiple genes have been reported to be linked to monogenic PD but these only explain a fraction of the observed familial aggregation. Rare variants in RIC3 have been suggested to be associated with PD in the Indian population. However, replication studies yielded inconsistent results. We further investigate the role of RIC3 variants in PD in European cohorts using individual-level genotyping data from 14,671 PD patients and 17,667 controls, as well as whole-genome sequencing data from 1,615 patients and 961 controls. We also investigated RIC3 using summary statistics from a Latin American cohort of 1,481 individuals, and from a cohort of 31,575 individuals of East Asian ancestry. We did not identify any association between RIC3 and PD in any of the cohorts. However, more studies of rare variants in non-European ancestry populations, in particular South Asian populations, are necessary to further evaluate the world-wide role of RIC3 in PD etiology.

帕金森病 (PD) 是一种复杂的神经退行性疾病，其中罕见和常见的遗传变异都会导致疾病风险。据报道，多个基因与单基因 PD 相关，但这些仅解释了观察到的家族聚集的一小部分。RIC3中的罕见变异被认为与印度人群中的 PD 相关。然而，复制研究产生了不一致的结果。我们使用来自 14,671 名 PD 患者和 17,667 名对照的个体水平基因分型数据，以及来自 1,615 名患者和 961 名对照的全基因组测序数据，进一步研究RIC3变异在欧洲队列中的作用。我们还研究了 RIC3使用来自拉丁美洲 1,481 人队列和东亚血统 31,575 人队列的汇总统计数据。我们没有发现任何队列中RIC3和 PD 之间的任何关联。然而，有必要对非欧洲血统人群，特别是南亚人群中的罕见变异进行更多研究，以进一步评估RIC3在 PD 病因学中的全球作用。