SV2C rs1423099 单核苷酸多态性与中国南方汉族散发性帕金森病的相关性。
Correlation of SV2C rs1423099 single nucleotide polymorphism with sporadic Parkinson's disease in Han population in Southern China.
机构信息
Department of Neurology, The First Affiliated Hospital of Guangzhou Medical University, Guangzhou 510120, China.
Department of Neurology, Shanghai General Hospital, Shanghai 200940, China.
出版信息
Neurosci Lett. 2023 Sep 14;813:137426. doi: 10.1016/j.neulet.2023.137426. Epub 2023 Aug 5.
BACKGROUND
The synaptic vesicle glycoprotein 2 (SV2) has been implicated in synaptic function throughout the brain. Accumulating evidence investigated that SV2C contributed to dopamine release and the disrupted expression of SV2C was considered to be a unique feature of PD that may facilitate dopaminergic neuron dysfunction.
OBJECTIVE
This study aimed to examine the relationship between the SV2C rs1423099 single nucleotide polymorphism and sporadic Parkinson's disease (PD) in the Chinese Han population.
MATERIALS AND METHODS
This study enrolled 351 patients with sporadic PD and 240 normal controls in Chinese Han population. Peripheral blood DNA was extracted by DNA extraction kits and the rs1423099 genotype was analyzed by Agena MassARRAY DNA mass spectrometry. The differences in genotype and allele distribution frequencies between PD patients and control groups were compared using chi-squared tests or Fisher's exact tests.
RESULTS
No statistical difference was revealed in age and sex distribution between the cases and control groups, and the distribution of genotype and allele frequencies was consistent with the Hardy-Weinberg equilibrium test. In SV2C rs1423099 dominant model, the frequency of the CC/CT genotype was significantly higher in the PD group compared to the control group (OR = 4.065,95% CI: 2.801-10.870, p = 0.002). Nevertheless, in the recessive model, CC or CT/TT genotypes have no statistical difference in the two groups (p = 0.09). Additionally, in allelic analysis, the C allele was investigated to increase the risk of PD (OR = 1.346, 95% CI: 1.036-1.745, p = 0.026); Furthermore, subgroup analysis suggested that those carrying the C allele in the male subgroup were at a higher risk to afflicted with PD (OR = 1.637, 95% CI: 1.147-2.336, p = 0.006).
CONCLUSION
SV2C rs1423099 single nucleotide polymorphism was associated with sporadic Parkinson's disease in the Chinese Han population, particularly in males.
背景
突触小泡糖蛋白 2（SV2）已被证实与大脑中的突触功能有关。越来越多的证据表明，SV2C 有助于多巴胺的释放，而 SV2C 的表达紊乱被认为是 PD 的一个独特特征，可能导致多巴胺能神经元功能障碍。
目的
本研究旨在探讨 SV2C rs1423099 单核苷酸多态性与中国汉族人群散发性帕金森病（PD）的关系。
材料与方法
本研究纳入了 351 例中国汉族散发性 PD 患者和 240 例正常对照。采用 DNA 提取试剂盒提取外周血 DNA，采用 Agena MassARRAY DNA 质谱法分析 rs1423099 基因型。采用卡方检验或 Fisher 确切概率法比较病例组和对照组的基因型和等位基因分布频率差异。
结果
病例组和对照组在年龄和性别分布上无统计学差异，且基因型和等位基因频率分布符合 Hardy-Weinberg 平衡检验。在 SV2C rs1423099 显性模型中，PD 组 CC/CT 基因型的频率明显高于对照组（OR=4.065，95%CI：2.801-10.870，p=0.002）。然而，在隐性模型中，CC 或 CT/TT 基因型在两组间无统计学差异（p=0.09）。此外，在等位基因分析中，C 等位基因增加 PD 的发病风险（OR=1.346，95%CI：1.036-1.745，p=0.026）；进一步的亚组分析表明，男性亚组携带 C 等位基因的个体患 PD 的风险更高（OR=1.637，95%CI：1.147-2.336，p=0.006）。
结论
SV2C rs1423099 单核苷酸多态性与中国汉族人群散发性帕金森病相关，尤其是男性。
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