A variant of the RAB32 gene is a risk factor for developing Parkinson disease (PD), according to a report published in Nature Genetics. Exome-wide analyses of 2,184 individuals with familial PD and 69,775 control individuals revealed that the p.S71R variant of RAB32 was present in around 0.7% of the PD group, compared with 0.004% of control individuals, and it segregated with PD in three families. RAB32 encodes a small GTPase that interacts with the PD-associated protein leucine-rich repeat kinase 2 (LRRK2), and the researchers showed that mutant RAB32 enhanced LRRK2 activity, which suggests a plausible mechanism through which the p.S71R variant could increase PD risk.

根据《自然遗传学》发表的一份报告， RAB32基因的变异是患帕金森病 (PD) 的危险因素。对 2,184 名家族性 PD 个体和 69,775 名对照个体进行的全外显子组分析显示， RAB32的 p.S71R 变体存在于 PD 组中约 0.7%，而对照个体中这一比例为 0.004%，并且在三个家族中与 PD 分离。 RAB32编码一种小 GTP 酶，可与 PD 相关蛋白富含亮氨酸重复激酶 2 (LRRK2) 相互作用，研究人员表明突变的 RAB32 增强了 LRRK2 活性，这表明 p.S71R 变体可能通过该机制增加 PD 风险。