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首页> 外文期刊>Advanced Biomedical Research >Lack of association between TNF-α gene polymorphisms at position -308 A, -850T and risk of simple febrile convulsion in pediatric patients
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Lack of association between TNF-α gene polymorphisms at position -308 A, -850T and risk of simple febrile convulsion in pediatric patients

机译：小儿患者-308 A，-850T位的TNF-α基因多态性与单纯性高热惊厥风险之间缺乏关联

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Background: Febrile convulsions (FCs), occurring between 6 months and 6 years of age is the most common seizure disorder during childhood. The febrile response is thought to be mediated by the release of pyrogenic cytokines, such as tumor necrosis factor and interleukin-1 (IL-1). There is a significant relationship between genetic components for susceptibility of FCs and different report mutation. We investigated association between two polymorphisms in the tumor necrosis factor (TNF)-α promoter region (G-308A, C-850T) and FCs in the southwest area of Iran. Materials and Methods: In this matched case-control study, 100 patients with febrile convulsion as case group and 130 healthy children as control group were enrolled in the study. Peripheral blood samples were collected and DNA was extracted by standard phenol-chloroform method. The genotype and allele frequencies of TNF- α polymorphisms in case and control groups were determined by using PCR-RFLP (polymerase chain reaction restriction fragment length polymorphism) method. Statistical analysis was done using Chi-square test. Results: The average age of case and control groups were 3.4 ± 1.4 and 3.4 ± 1.2 years, respectively. There was no significant difference between age and sex in both the groups ( P > 0.05). A family history of febrile convulsion was detected in 44% of patients. Moreover, the simple febrile convulsion was detected in 85% of the case group. Conclusion: RFLP analysis of TNF- α promoter region polymorphisms, considering P = 0.146 and P = 0.084 for G-308A and C-850T, respectively, showed no correlation between TNF- α polymorphisms and predisposition to simple febrile, based on the kind of convulsion (atypical and simple febrile convulsion). We found a significant relation between genotype distribution of G-308A and atypical febrile convulsion in case group ( P = 0.04). A significant correlation between genotype distribution of G-308A and atypical febrile convulsion in the case group was found, but there was no correlation between TNF- α polymorphisms at positions of -308A, and 850T and predisposition to simple febrile convulsion. Further studies are needed to understand clinical usefulness of this correlation.
机译：背景：高热惊厥（FCs）发生在6个月至6岁之间，是儿童时期最常见的癫痫发作疾病。发热反应被认为是由释放热原性细胞因子介导的，例如肿瘤坏死因子和白介素-1（IL-1）。 FC易感性的遗传成分与不同报告突变之间存在显着关系。我们调查了肿瘤坏死因子（TNF）-α启动子区域（G-308A，C-850T）和伊朗西南地区的FC之间的两个多态性之间的关联。资料和方法：在该配对病例对照研究中，将100例高热惊厥患者作为病例组，将130例健康儿童作为对照组。收集外周血样品，并通过标准苯酚-氯仿方法提取DNA。病例组和对照组的TNF-α基因多态性的基因型和等位基因频率通过PCR-RFLP（聚合酶链反应限制片段长度多态性）方法确定。使用卡方检验进行统计分析。结果：病例组和对照组的平均年龄分别为3.4±1.4岁和3.4±1.2岁。两组的年龄和性别均无显着性差异（P> 0.05）。在44％的患者中发现了高热惊厥家族史。此外，在85％的病例组中检测到简单的高热惊厥。结论：分别考虑G-308A和C-850T的P = 0.146和P = 0.084的TNF-α启动子区多态性的RFLP分析显示，TNF-α启动子区多态性与单纯发热的易感性之间没有相关性。惊厥（非典型和简单的高热惊厥）。我们发现病例组中G-308A的基因型分布与非典型性高热惊厥之间存在显着相关性（P = 0.04）。发现病例组中G-308A的基因型分布与非典型性高热惊厥之间存在显着相关性，但-308A和850T部位的TNF-α多态性与单纯性高热惊厥的易感性之间没有相关性。需要进一步的研究来了解这种相关性的临床实用性。

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