IL-1β-511T基因rs16944多态性与热性惊厥的关联研究  

Association of IL-1β-511T gene rs16944 polymorphism with febrile seizures

作　　者：任晓暾[1,2] 孙素真[2] 刘芳[3] 王晓明[2] 

机构地区：[1]首都医科大学附属北京儿童医院神经康复中心,北京100045 [2]河北省儿童医院神经内科,河北石家庄050031 [3]北京军区总医院附属八一儿童医院内科,北京100700

出　　处：《中国当代儿科杂志》2014年第2期181-184,共4页Chinese Journal of Contemporary Pediatrics

基　　金：河北省卫生厅重点科研项目(20090002)

摘　　要：目的致热因子白细胞介素1(IL-1β)基因多态性是否参与热性惊厥(FS)的发病目前仍存在争议,该研究将探讨中国北方汉族儿童热点基因IL-1β-511T的单核苷酸(SNP)rs16944多态性与FS发病的关联性。方法用SNaPshot SNP分型技术对141例单纯型FS患儿和130例健康对照进行IL-1β-511T基因rs16944位点分型,比较该SNP基因型和等位基因频率的差异。结果与对照组相比,病例组rs16944多态性的基因型和等位基因频率差异均无统计学意义(P>0.05);rs16944多态性3种基因型A/A、A/G、G/G的FS患儿的临床特征比较,显示首次惊厥的年龄(χ2=19.491,P<0.01)、首次惊厥的体温(χ2=9.317,P<0.05)、有无FS家族史(χ2=26.798,P<0.01)差异均具有统计学意义。结论 IL-1β-511T基因rs16944多态性与北方汉族儿童单纯FS的发病无关联,但其基因型不同可能与患儿FS的发生及预后有关。Objective Despite substantial research efforts worldwide, the role of inflammatory cytokine IL-1β in the onset of febrile seizures （FS） remains controversial. The aim of this study was to assess the relationship between rs16944 polymorphism of the IL-1β-5l1T gene and occurrence of simple FS in a sample of Han children in northern China. Methods The IL-1β-511T gene rs16944 was genotyped by SNaPshot SNP technique in 141 FS children and 130 healthy control subjects. The genotypic and allelic frequencies in the two groups were comparatively analyzed. Results There were no significant differences in genotypic and allelic frequencies ofrs16944 polymorphism of the IL- 1β-5l1T gene between FS patients and control subjects （P〉0.05）.When the clinical data onA/A, A/G and GIG genotypes of the rs16944 polymorphism in FS patients, there was statistically significant difference in age of first onset （x2=19.491, P〈0.01）, temperature of first onset （x2=9.317, P〈0.05） and family history of FS （x2=26.798, P〈0.01）. Conclusions There is no association between rs 16944 polymorphism of the IL-1β-511 T gene and the incidence of FS in Han children in Northern China. However, the differences in genotypes of this polymorphism might be associated with pathogenesis and prognosis of simple FS in the population studied.

关 键 词：热性惊厥 白细胞介素1Β 单核苷酸多态性 儿童 

分 类 号：R720.597[医药卫生—急诊医学]