KCC2 rs2297201基因多态性可能是热性惊厥的预测性遗传标记

IF 3.9 4区 医学 Q2 NEUROSCIENCES ASN NEURO Pub Date : 2022-01-01 DOI:10.1177/17590914221093257
Sanja Dimitrijevic, Biljana Jekic, Suzana Cvjeticanin, Aleksandra Tucovic, Tamara Filipovic, Ivana Novaković, Bojana Ivić, Dimitrije Nikolic
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引用次数: 2

摘要

热性惊厥(FS)是儿童最常见的神经系统疾病。FS的病因学是许多研究的主题,包括关于遗传易感性的研究。目的:本研究旨在分析TRPV1 rs222747和KCC2 rs2297201基因多态性与FS发生的关系。材料与方法:研究纳入112例诊断为FS的患者,分为单纯热性惊厥(SFS)和复杂热性惊厥(CFS)。我们用Real-time PCR方法分析了KCC2和TRPV1基因的多态性。结果:KCC2基因rs2297201多态性的CT和TT基因型在FS组显著高于对照组(p = 0.002),该多态性的等位基因T显著高于对照组(p = 0.045)。此外,与对照组相比,KCC2基因rs2297201多态性的基因型CT和TT在CFS儿童组中更常见(p TRPV1基因多态性与热性惊厥或癫痫的发生无关,也与特定类型的热性惊厥的发生无关(p = .252)。结论:CT和TT基因型以及KCC2基因rs2297201多态性的T等位基因可能是FS的易感因素,也是CFS发生的易感因素。
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KCC2 rs2297201 Gene Polymorphism Might be a Predictive Genetic Marker of Febrile Seizures.

Introduction: Febrile seizures (FS) are the most common neurological disease in childhood. The etiology of FS is the subject of numerous studies including studies regarding genetic predisposition. Aim: The aim of the study was to analyze the association of TRPV1 rs222747 and KCC2 rs2297201 gene polymorphisms with the occurrence of FS. Materials and Methods: The study included 112 patients diagnosed with FS classified as simple febrile seizures (SFS) or complex febrile seizures (CFS). We analyzed selected polymorphisms of KCC2 and TRPV1 genes using the Real-time PCR method. Results: The CT and TT genotypes of the rs2297201 polymorphism of the KCC2 gene are significantly more common in the group of children with FS than the control group (p = .002) as well as the allele T of this polymorphism (p = .045). Additionally, genotypes CT and TT of the rs2297201 polymorphism of the KCC2 gene were more frequent in the group of children with CFS compared to the control group (p < .001). Different genotypes and alleles of the rs222747 TRPV1 gene polymorphism were not associated with the occurrence of febrile seizures or epilepsy, nor were associated with the occurrence of a particular type of febrile seizure (p = .252). Conclusion: These results indicate that the CT and TT genotypes, as well as the T allele of rs2297201 polymorphism of the KCC2 gene, could be a predisposing factor for the FS, as well as the occurrence of CFS.

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来源期刊
ASN NEURO
ASN NEURO NEUROSCIENCES-
CiteScore
7.70
自引率
4.30%
发文量
35
审稿时长
>12 weeks
期刊介绍: ASN NEURO is an open access, peer-reviewed journal uniquely positioned to provide investigators with the most recent advances across the breadth of the cellular and molecular neurosciences. The official journal of the American Society for Neurochemistry, ASN NEURO is dedicated to the promotion, support, and facilitation of communication among cellular and molecular neuroscientists of all specializations.
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