Nur B G, Sahinturk D, Coskun M, Duman O, Yavuzer U, Haspolat S
Division of Pediatric Genetics, Department of Pediatrics, Akdeniz University School of Medicine, Antalya, Turkey.
Neuropediatrics. 2012 Aug;43(4):194-200. doi: 10.1055/s-0032-1323849. Epub 2012 Aug 21.
Inflammation and genetics may play a role in the pathogenesis of febrile seizures. The aim of this study was to investigate the spontaneous and lipopolysaccharide (LPS)-induced production of IL-1β and IL-10, and the association between IL-1β (-511) and IL-10 (-1082) single nucleotide polymorphisms with LPS-induced cytokine production. The study included 92 febrile seizure patients and 132 healthy controls. First, we isolated genomic DNA and by using PCR-RFLP we genotyped the individuals for the cytokines gene polymorphism. Second, peripheral mononuclear cells of the individuals were isolated and stimulated with LPS to measure secretion capacity of IL-1β and IL-10 using specific ELISA kits. We found that both the IL-1β and IL-10 production was increased in febrile seizures. The rapid increase of IL-1β production in the supernatants of the LPS-induced cells was significantly higher at the fourth and the twenty-fourth hours in febrile and complex febrile seizures, respectively. The distribution of IL-10 (-1082) G allele differs significantly between cases and controls. The IL-1β (-511) G/A and the IL-10 (-1082) G/A genotype combination was found to be higher in patients with febrile seizure. Our results showed that IL-1β and IL-10 production was not influenced by the single nucleotide polymorphisms in the pathogenesis of febrile seizures.
炎症和遗传因素可能在热性惊厥的发病机制中起作用。本研究的目的是调查白细胞介素-1β（IL-1β）和白细胞介素-10（IL-10）的自发产生及脂多糖（LPS）诱导的产生情况，以及IL-1β（-511）和IL-10（-1082）单核苷酸多态性与LPS诱导的细胞因子产生之间的关联。该研究纳入了92例热性惊厥患者和132例健康对照者。首先，我们提取基因组DNA，并使用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）对个体进行细胞因子基因多态性基因分型。其次，分离个体的外周血单个核细胞，并用LPS刺激，使用特异性酶联免疫吸附测定（ELISA）试剂盒测量IL-1β和IL-10的分泌能力。我们发现热性惊厥患者中IL-1β和IL-10的产生均增加。在LPS诱导的细胞上清液中，IL-1β产生的快速增加在单纯热性惊厥和复杂性热性惊厥中分别在第4小时和第24小时显著更高。IL-10（-1082）G等位基因在病例组和对照组之间的分布有显著差异。在热性惊厥患者中发现IL-1β（-511）G/A和IL-10（-1082）G/A基因型组合更高。我们的结果表明，在热性惊厥的发病机制中，IL-1β和IL-10的产生不受单核苷酸多态性的影响。
