Association of SCN2A single nucleotide polymorphisms with Parkinson's disease: evidence from a case-control study.

IF 1.5 4区 医学 Q4 NEUROSCIENCES
International Journal of Neuroscience Pub Date : 2025-10-01 Epub Date: 2025-06-01 DOI:10.1080/00207454.2025.2501651
Teng Li, Jingxin Wang, Gan Gao, Benzhang Tao, Qishuai Yu, Shiying Huang, Yanyang Zhang, Pei Zhang
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引用次数: 0

Abstract

Background: A growing body of strong evidence shows that voltage-gated sodium channels genes play key roles in the development of sporadic Parkinson's disease (sPD). However, little data have been reported on the association between single nucleotide polymorphisms (SNPs) and sPD. This study aimed to investigate the association between SCN2A gene polymorphisms and sPD.

Methods: 267 patients with sPD and 267 healthy controls were included in this study. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was performed. Reverse transcription-quantitative polymerase chain reaction (RT-qPCR) was used to detect the expression of SCN2A in the serum of patients and healthy individuals.

Results: The distribution of the G allele of rs2304016 or the A allele of rs17183814 in SCN2A was significantly higher in patients with sPD (p = 0.001). In subtype analysis, the frequency of the rs2304016 AG heterozygote significantly differed between the early onset PD (EOPD) and late-onset PD (LOPD) groups (p < 0.001). The frequency of the rs17183814 AG heterozygote was significantly higher in the male patients (p = 0.002). Furthermore, we found that the level of SCN2A mRNA transcription in the serum of sPD patients was significantly lower than that in the control group (p < 0.05). The serum expression level of SCN2A in patients with the AA genotype at rs17183814 was lower (p < 0.05).

Conclusions: This study demonstrated a significant association between SNPs and the expression of SCN2A with sPD. These findings contribute to a better understanding of the role of SCN2A and SCN2A SNPs in sPD.

SCN2A单核苷酸多态性与帕金森病的关联:来自病例对照研究的证据
背景:越来越多的有力证据表明,电压门控钠通道基因在散发性帕金森病(sPD)的发展中起关键作用。然而,关于单核苷酸多态性(snp)与sPD之间关系的数据报道很少。本研究旨在探讨SCN2A基因多态性与sPD之间的关系。方法:选取267例sPD患者和267名健康对照。聚合酶链反应-限制性片段长度多态性(PCR-RFLP)。采用逆转录-定量聚合酶链反应(RT-qPCR)检测SCN2A在患者和健康人血清中的表达。结果:sPD患者SCN2A中rs2304016的G等位基因或rs17183814的A等位基因的分布显著高于sPD患者(P = 0.001)。在亚型分析中,早发性PD (EOPD)组和晚发性PD (LOPD)组rs2304016 AG杂合子频率差异有统计学意义(P = 0.002)。此外,我们发现sPD患者血清中SCN2A mRNA转录水平显著低于对照组(rs17183814位点AA基因型患者的SCN2A mRNA转录水平较低)。结论:本研究表明snp与SCN2A与sPD的表达存在显著相关性。这些发现有助于更好地理解SCN2A和SCN2A snp在sPD中的作用。
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来源期刊
CiteScore
5.10
自引率
0.00%
发文量
132
审稿时长
2 months
期刊介绍: The International Journal of Neuroscience publishes original research articles, reviews, brief scientific reports, case studies, letters to the editor and book reviews concerned with problems of the nervous system and related clinical studies, epidemiology, neuropathology, medical and surgical treatment options and outcomes, neuropsychology and other topics related to the research and care of persons with neurologic disorders.  The focus of the journal is clinical and transitional research. Topics covered include but are not limited to: ALS, ataxia, autism, brain tumors, child neurology, demyelinating diseases, epilepsy, genetics, headache, lysosomal storage disease, mitochondrial dysfunction, movement disorders, multiple sclerosis, myopathy, neurodegenerative diseases, neuromuscular disorders, neuropharmacology, neuropsychiatry, neuropsychology, pain, sleep disorders, stroke, and other areas related to the neurosciences.
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