STAT3基因多态性与儿童癫痫易感性的相关性

Polymorphism in signal transducer and activator of transcription 3 (STAT3) gene and susceptibility of epilepsy in children

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rs 1053005和rs 744166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rs 1053005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（P＞0.05）。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（P＞0.05）。结论 STAT 3基因SNP位点rs 1053005与癫痫的遗传易感性相关。

Objective To explore the association between two single nucleotide polymorphisms （SNP）, rs1053005 and rs744166, in signal transducer and activator of transcription 3 （STAT3） gene and their susceptibility to childhood epilepsy. MethodsA case control study was performed, in which 462 children with epilepsy including 121 children with intractable epilepsy were recruited. 493 healthy children were include as control group. PCR-RFLP was performed to investigate the two SNPs’ polymorphism. The relationship between the risk of children epilepsy and different genotypes and allelic genes was compared.ResultsStatistical differences of SNP rs1053005 genotype frequencies （AA, AG, GG） were found in epilepsy children as compared with control group （χ^2=9.705,P=0.008）. While the frequency of G allele in epilepsy children was obviously lower than that in the control group （OR=0.734,P=0.002, 95%CI： 0.604-0.892）. There was no significant differences of SNP rs744166 genotype frequencies and C allele frequencies between epilepsy children and controls （P〉0.05）. ConclusionSNP rs1053005 ofSTAT3 gene was associated with the risk of childhood epilepsy.