小儿热性惊厥与IL-6基因多态性的关联性研究

目的:探讨白细胞介素-6(Interleukin-6,IL-6)基因-572C/G、-174G/C多态性与小儿热性惊厥(fe-brile seizures,FS)的关联。方法:选择2009年6月～2010年6月热性惊厥患儿50例为FS组,同期门诊健康体检儿童30例为对照组(所有研究对象均为汉族,无血缘关系)。采用PCR/RFLP对病例组与对照组小儿的IL-6基因的-572、-174位点基因进行分析。结果:IL-6基因-572位点基因型和等位基因频率在FS组与对照组间分布差异有统计学意义,FS组-572 GG基因型和G等位基因频率均显著高于对照组(P<0.05);携带G等位基因个体患FS的风险约是C等位基因型个体的7.64倍(95%CI:2.89～18.13,P<0.05);IL-6基因启动子-174位点未发现基因多态性。结论:IL-6基因-572C/G多态性可能是中国汉族儿童FS发病的遗传危险因素之一。

Association of interleukin-6 polymorphism and febrile seizures in children

Objective:To investigate the relationship between the interleukin-6(IL-6)-572 C/G,-174G/C single nueleotide polymorphism(SNP) and febrile seizures(FS) in children.Methods:A total of 50 pediatric patients with FS were studied together with 30 healthy controls.The polymorphism of IL-6 was detected by polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP) method.Results:The frequency of the genotype GG of the IL-6(-572) site in the FS group was significantly higher than that of the control group.The risk of FS of the G allele carriers was 7.64 times that of the C allele carriers(OR95%CI: 2.89~18.13,P<0.05).No polymorphism at position-174 was found in two groups.Conclusion:IL-6 gene-572C /G polymorphism could be the predictor of FS in the Chinese children.