鉴定该基因作为癫痫治疗的潜在靶点和 rs10496964 与表达的关联。
Identification of the gene as a potential target for epilepsy therapy and the association between rs10496964 and expression.
机构信息
Department of Neurology, First Affiliated Hospital of Kunming Medical University, Kunming, China.
Department of Clinical Laboratory, First Affiliated Hospital of Kunming Medical University, Kunming, China.
出版信息
J Int Med Res. 2020 Dec;48(12):300060520980527. doi: 10.1177/0300060520980527.
OBJECTIVE
An association between the rs10496964 polymorphism and the gene has not yet been reported, and the role of in epilepsy therapy is also unclear. The aims of this research were to evaluate the role of in the therapy of epilepsy and to explore the association between rs10496964 and expression.
METHODS
We used the expression quantitative trait loci (eQTL) dataset resource from the Brain eQTL Almanac to evaluate the association between rs10496964 and expression in human brain tissue. Pathway and process enrichment analysis, protein-protein interaction analysis, and PhosphoSitePlus® analysis were then performed to further evaluate the role of in the therapy of epilepsy.
RESULTS
The rs10496964 polymorphism was found to regulate the expression of in human brain tissue. The ZEB2 protein interacts with the targets of approved antiepileptic drugs, and a post-translational acetylation modification of ZEB2 was associated with an epilepsy drug therapy.
CONCLUSION
Our findings suggest that may be involved in the therapy of epilepsy, and rs10496964 regulates expression in human brain tissue.
目的
尚未有研究报道 rs10496964 多态性与基因之间的关联，并且基因在癫痫治疗中的作用也不清楚。本研究旨在评估基因在癫痫治疗中的作用，并探讨 rs10496964 与基因表达之间的关系。
方法
我们使用 Brain eQTL Almanac 的表达数量性状基因座 (eQTL) 数据集资源，评估 rs10496964 与人类脑组织中基因表达之间的关联。然后进行通路和过程富集分析、蛋白质-蛋白质相互作用分析和 PhosphoSitePlus® 分析，以进一步评估基因在癫痫治疗中的作用。
结果
发现 rs10496964 多态性调节人类脑组织中基因的表达。ZEB2 蛋白与已批准的抗癫痫药物的靶标相互作用，并且 ZEB2 的翻译后乙酰化修饰与癫痫药物治疗相关。
结论
我们的研究结果表明，基因可能参与癫痫的治疗，并且 rs10496964 调节人类脑组织中基因的表达。
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