RAB32 Ser71Arg in Chinese patients with Parkinson's disease.

IF 2.7 4区 医学 Q2 CLINICAL NEUROLOGY
Neurological Sciences Pub Date : 2025-03-01 Epub Date: 2024-12-09 DOI:10.1007/s10072-024-07910-0
Yinge Xue, Minglei Liu, Kaixin Chen, Yuming Xu, Jing Yang
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引用次数: 0

Abstract

Background: The RAB32 Ser71Arg variant has been identified as a novel risk locus for Parkinson's disease (PD) in North American, European and North African populations. However, its pathogenicity in Asian populations remains unclear.

Method: To investigate this, we screened for the RAB32 c.213C > G (Ser71Arg) variant using Sanger sequencing in 1,099 PD patients and 1,549 controls. And we search for the RAB32 Ser71Arg variant in public databases to identified its mutant frequency.

Results: Our results show that no individuals carrying the RAB32 Ser71Arg variant were identified in our cohort. Additionally, this variant rarely appears in Asian population databases.

Conclusion: Our findings suggest that the RAB32 Ser71Arg variant is unlikely to be a risk locus for PD in Chinese patients, which is potentially attributed to racial or ethnic differences.

中国帕金森病患者的RAB32 Ser71Arg
背景:RAB32 Ser71Arg变异已被确定为北美、欧洲和北非人群中帕金森病(PD)的一个新的风险位点。然而,其在亚洲人群中的致病性尚不清楚。方法:为了研究这一点,我们使用Sanger测序方法筛选了1,099名PD患者和1,549名对照者的RAB32 c.213C > G (Ser71Arg)变体。我们在公共数据库中搜索RAB32 Ser71Arg变体,以确定其突变频率。结果:我们的研究结果显示,在我们的队列中没有发现携带RAB32 Ser71Arg变异的个体。此外,这种变异很少出现在亚洲人口数据库中。结论:我们的研究结果表明,RAB32 Ser71Arg变异不太可能是中国PD患者的风险位点,这可能归因于种族或民族差异。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
Neurological Sciences
Neurological Sciences 医学-临床神经学
CiteScore
6.10
自引率
3.00%
发文量
743
审稿时长
4 months
期刊介绍: Neurological Sciences is intended to provide a medium for the communication of results and ideas in the field of neuroscience. The journal welcomes contributions in both the basic and clinical aspects of the neurosciences. The official language of the journal is English. Reports are published in the form of original articles, short communications, editorials, reviews and letters to the editor. Original articles present the results of experimental or clinical studies in the neurosciences, while short communications are succinct reports permitting the rapid publication of novel results. Original contributions may be submitted for the special sections History of Neurology, Health Care and Neurological Digressions - a forum for cultural topics related to the neurosciences. The journal also publishes correspondence book reviews, meeting reports and announcements.
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