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

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。

Abstract:

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-511T 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 of rs16944 polymorphism of the IL-1β-511T gene between FS patients and control subjects (P>0.05).When the clinical data on A/A, A/G and G/G genotypes of the rs16944 polymorphism in FS patients, there was statistically significant difference in age of first onset (χ²=19.491, P<0.01), temperature of first onset (χ²=9.317, P<0.05) and family history of FS (χ²=26.798, P<0.01). Conclusions There is no association between rs16944 polymorphism of the IL-1β-511T 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.