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SCN1A 和 SCN2A 基因多态性对丙戊酸治疗中国儿童癫痫疗效的影响。

Effect of SCN1Aand SCN2A gene polymorphisms on the efficacy of valproic acid treatment in Chinese children with epilepsy.

机构信息

Changzhou Children's Hospital Affiliated to Nantong University, Changzhou, Jiangsu, China.

出版信息

PLoS One. 2024 Jun 5;19(6):e0304869. doi: 10.1371/journal.pone.0304869. eCollection 2024.

DOI:10.1371/journal.pone.0304869
PMID:38837984
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11152251/
Abstract

OBJECTIVE

Epilepsy patients exhibit considerable differences in their response to sodium valproate (VPA) therapy, a phenomenon that might be attributed to individual genetic variances. The role of genetic variations, specifically in sodium channels encoded by SCN1A and SCN2A genes, in influencing the effectiveness of VPA in treating epilepsy is still debated. This research focuses on examining the impact of these genetic polymorphisms on the efficacy of VPA therapy among pediatric epilepsy patients in China.

METHODS

Five single nucleotide polymorphisms (SNPs), including SCN1A (rs10188577, rs2298771, rs3812718) and SCN2A (rs2304016, rs17183814), were genotyped in 233 epilepsy patients undergoing VPA therapy. The associations between genotypes and the antiepileptic effects of VPA were assessed, with 128 patients categorized as VPA responders and 105 as VPA non-responders.

RESULTS

In the context of VPA monotherapy, SCN1A rs2298771 and SCN2A rs17183814 were found to be significantly associated with VPA response (P< 0.05).

CONCLUSION

Our study suggests the findings of this investigation indicate that the polymorphisms SCN1A rs2298771 and SCN2A rs17183814 could potentially act as predictive biomarkers for the responsiveness to VPA among Chinese epilepsy patients.

摘要

目的

癫痫患者对丙戊酸钠（VPA）治疗的反应存在显著差异，这种现象可能归因于个体遗传变异。SCN1A 和 SCN2A 基因编码的钠离子通道的遗传变异在影响 VPA 治疗癫痫的有效性方面的作用仍存在争议。本研究旨在探讨这些遗传多态性对中国儿科癫痫患者 VPA 治疗效果的影响。

方法

对 233 例接受 VPA 治疗的癫痫患者进行了 5 个单核苷酸多态性（SNPs），包括 SCN1A（rs10188577、rs2298771、rs3812718）和 SCN2A（rs2304016、rs17183814）的基因分型。评估基因型与 VPA 抗癫痫作用之间的关联，其中 128 例患者被归类为 VPA 反应者，105 例为 VPA 非反应者。

结果

在 VPA 单药治疗中，SCN1A rs2298771 和 SCN2A rs17183814 与 VPA 反应显著相关（P<0.05）。

结论

我们的研究表明，这项研究的发现表明，SCN1A rs2298771 和 SCN2A rs17183814 多态性可能成为中国癫痫患者对 VPA 反应性的预测生物标志物。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9b54/11152251/b7a5b8a5cfec/pone.0304869.g007.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9b54/11152251/904d313fdc87/pone.0304869.g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9b54/11152251/bc2d972d7b8d/pone.0304869.g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9b54/11152251/bc38d3ed6345/pone.0304869.g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9b54/11152251/558936fef05c/pone.0304869.g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9b54/11152251/74fc7b5acf5c/pone.0304869.g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9b54/11152251/39b23b687002/pone.0304869.g006.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9b54/11152251/b7a5b8a5cfec/pone.0304869.g007.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9b54/11152251/904d313fdc87/pone.0304869.g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9b54/11152251/bc2d972d7b8d/pone.0304869.g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9b54/11152251/bc38d3ed6345/pone.0304869.g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9b54/11152251/558936fef05c/pone.0304869.g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9b54/11152251/74fc7b5acf5c/pone.0304869.g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9b54/11152251/39b23b687002/pone.0304869.g006.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9b54/11152251/b7a5b8a5cfec/pone.0304869.g007.jpg

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