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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。
Objective: To investigate the association of Interleukin-6 (IL-6) -572C / G and -174G / C polymorphisms with febrile seizures (FS) in children. Methods: Fifty children with febrile seizures from June 2009 to June 2010 were selected as the FS group. Thirty healthy children were selected as the control group during the same period (all subjects were Han nationality, unrelated). The genes of -572 and -174 of IL-6 gene in pediatric and control children were analyzed by PCR / RFLP. Results: The frequency of genotype and allele at -572 locus in IL-6 gene was significantly different between FS group and control group. The frequencies of -572 GG genotype and G allele in FS group were significantly higher than those in control group (P <0.05). The risk of FS with G allele was 7.64 times (95% CI: 2.89-18.13, P <0.05) in subjects with C allele. IL-6 gene promoter -174 Point did not find the gene polymorphism. Conclusion: The -572C / G polymorphism of IL-6 gene may be one of the genetic risk factors for FS in Chinese Han children.