STAT3基因多态性与儿童癫痫易感性的相关性

发布时间：2018-06-08 12:49

本文选题：癫痫 + 信号转导和转录活化因子　；参考：《临床儿科杂志》2016年11期

【摘要】：目的探讨信号转导和转录活化因子3(STAT 3)基因两个SNP位点rs1053005和rs744166多态性与儿童癫痫易感性的关系。方法采用病例对照研究,选取462例癫痫患儿,其中包括121例难治性癫痫(RE)患儿,以493例健康儿童作为对照组。利用PCR-RFLP方法进行两个SNP位点的多态性检测,比较不同基因型及等位基因与儿童癫痫患病风险的关系。结果癫痫患儿SNP位点rs1053005的基因型(AA,AG,GG)频率与对照组比较,差异有统计学意义(χ~2=9.705,P?=0.008);癫痫患儿的等位基因G频率明显低于对照组(OR=0.734,P=0.002,95%CI:0.604~0.892);SNP位点rs744166的基因型(TT,TC,CC)频率和等位基因频率与对照组比较,差异均无统计学意义(P0.05)。在癫痫患儿中,RE患儿与非RE患儿比较,SNP位点rs1053005和rs744166的基因型频率和等位基因频率的差异均无统计学意义(P0.05)。结论 STAT3基因SNP位点rs1053005与癫痫的遗传易感性相关。
[Abstract]:Objective to investigate the relationship between rs1053005 and rs744166 polymorphisms in two SNPs of signal transduction and transcription activator 3STAT3 gene and susceptibility to epilepsy in children. Methods A case-control study was conducted in 462 children with epilepsy including 121 children with refractory epilepsy and 493 healthy children as control group. The polymorphism of two SNP loci was detected by PCR-RFLP to compare the relationship between different genotypes and alleles and the risk of epilepsy in children. Results compared with the control group, the frequency of rs1053005 genotypic rs1053005 in epileptic children was significantly higher than that in the control group (蠂 2 / 9.705), and the frequency of allele G was significantly lower in children with epilepsy than that in the control group (P < 0. 734) or 0. 734 / 0. 002 / 95 CIW / 0.604 / 0. 892SNP / C), and the frequency of rs744166 allele was significantly lower than that in the control group (P < 0. 604, P = 0. 604, P = 0. 604, P > 0. 892), and there was no significant difference between the control group and the control group. The difference was not statistically significant (P 0.05). There was no significant difference in genotype frequency and allele frequency of rs1053005 and rs744166 between RE and non-RE children in epileptic children (P 0.05). Conclusion rs1053005 of STAT3 gene is associated with genetic susceptibility to epilepsy.
【作者单位】：武汉市妇女儿童医疗保健中心(武汉市儿童医院)中心实验室;武汉市妇女儿童医疗保健中心(武汉市儿童医院)神经内科;
【基金】：武汉市科技创新平台-儿童神经疾病临床医学研究中心资助项目(No.2014-160)
【分类号】：R742.1

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