Association Analysis of Interleukin-1β, Interleukin-6, and HMGB1 Variants with Postictal Serum Cytokine Levels in Children with Febrile Seizure and Generalized Epilepsy with Febrile Seizure Plus
Association Analysis of Interleukin-1β, Interleukin-6, and HMGB1 Variants with Postictal Serum Cytokine Levels in Children with Febrile Seizure and Generalized Epilepsy with Febrile Seizure Plus
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DOI：
10.3988/jcn.2019.15.4.555
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发表时间：
2019-10-01
影响因子：
3.1
通讯作者：
Shin, Jeon-Soo
中科院分区：
文献类型：
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作者：
Choi, Jieun;Choi, Sun Ah;Shin, Jeon-Soo
背景与目的热性惊厥是一种独特的癫痫发作类型，仅发生在儿童时期。遗传性癫痫伴热性惊厥(GEFS+)是一种家族性癫痫综合征，与FS和无热性惊厥(AFS)相关。这两种癫痫类型都与发烧有关，但是否与炎症的遗传易感性有关仍不清楚。目的探讨白介素1(IL)-1β、IL-6和高迁移率族蛋白B1(HMGB1)基因突变与FS和GEFS+患者血清细胞因子水平的关系。方法采用基因分型方法，对58例FS患者(FS组57例，GEFS+组43例，对照组108例)的IL-1β-31(Rs1143627)、IL-1β-511(Rs16944)、IL-6-572(Rs1800796)和HMGB1 3814(Rs2249825)进行基因分型。用双抗体夹心法检测68例癫痫发作后2小时内血清IL-β、IL-6和HMGB1水平(38例FS、10例GEFS+和20例对照组)。结果IL-1β-31和IL-1β-511变异体之间存在近完全连锁不平衡。在FS患者中，这些变异型的CT基因型与血清IL-1β水平显著高于CC+TT基因型(均P
Background and Purpose Febrile seizure (FS) is a unique type of seizure that only occurs during childhood. Genelized epilepsy with febrile seizure plus (GEFS+) is a familial epilepsy syndrome associated with FS and afebrile seizure (AFS). Both seizure types are related to fever, but whether genetic susceptibility to inflammation is implicated in them is still unclear. To analyze the associations between postictal serum cytokine levels and genetic variants in the cytokine genes interleukin (IL)-1 beta, IL-6, and high mobility group box-1 (HMGB1) in FS and GEFS+.Methods Genotyping was performed in 208 subjects (57 patients with FS, 43 patients with GEFS+, and 108 controls) with the SNaPshot assay for IL-1 beta-31 (rs1143627), IL-1 beta-511 (rs16944), IL-6-572 (rs1800796), and HMGB1 3814 (rs2249825). Serum IL-beta, IL-6, and HMGB1 levels were analyzed within 2 hours after seizure attacks using the ELISA in only 68 patients (38 FS, 10 GEFS+, and 20 controls). The allele distribution, genotype distribution, and correlations with serum cytokine levels were analyzed.Results Near-complete linkage disequilibrium exists between IL-1 beta-31 and IL-1 beta-511 variants. CT genotypes of these variants were associated with significantly higher postictal serum IL-1 beta levels than were CC+TT genotypes in FS (both p