中国帕金森病患者中的RAB32 Ser71Arg
RAB32 Ser71Arg in Chinese patients with Parkinson's disease.
作者信息
Xue Yinge, Liu Minglei, Chen Kaixin, Xu Yuming, Yang Jing
机构信息
Department of Neurology, The First Affiliated Hospital of Zhengzhou University, No. 1 Eastern Jianshe Road, Zhengzhou, 450052, Henan, China.
出版信息
Neurol Sci. 2025 Mar;46(3):1379-1381. doi: 10.1007/s10072-024-07910-0. Epub 2024 Dec 9.
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.
背景
RAB32基因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仍不清楚。
方法
为了对此进行研究，我们使用桑格测序法在1099例PD患者和1549例对照中筛查RAB32基因c.213C＞G（Ser71Arg）变异。并且我们在公共数据库中搜索RAB32基因Ser71Arg变异以确定其突变频率。
结果
我们的结果显示，在我们的队列中未发现携带RAB32基因Ser71Arg变异的个体。此外，该变异在亚洲人群数据库中很少出现。
结论
我们的研究结果表明，RAB32基因Ser71Arg变异不太可能是中国患者患PD的风险位点，这可能归因于种族或民族差异。
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