GABAARG2 基因单核苷酸多态性 与儿童癫痫易感性的关系

Association between single nucleotide polymorphisms of GABAARG2 gene and susceptibility to epilepsy in children

摘要:

目的 对我国北方地区汉族儿童GABAARG2 基因C588T 单核苷酸多态性与癫痫易感性的关 系进行研究。方法 选取2013 年3 月—2018 年6 月于延边大学附属医院儿科门诊和/ 或住院治疗的189 例癫痫患儿作为研究对象。根据癫痫发作类型分为部分性发作组和全面性发作组，同时选择113 例非癫痫 儿童作为对照组。收集研究对象一般临床资料，提取外周血基因组DNA，采用PCR 扩增后基因测序鉴定 GABAARG2 基因C588T 多态性，测定该位点基因型频率和等位基因频率，并进行统计学分析。结果 3 组 患儿平均病程、24 h 脑电图中度以上异常比较，差异有统计学意义（P <0.05）。3 组患者CC、CT 和TT 基 因型比较，差异有统计学意义（P <0.05）；3 组患者等位基因C、T 频率比较，差异有统计学意义（P <0.05）。 相比与CC 基因型，CT 基因型引发癫痫的风险是其2.127 倍，TT 基因型则为3.926 倍；相比C 等位基因，T 等位基因引发癫痫的风险是其2.191 倍。结论 GABAARG2 基因C588T 单核苷酸多态性与儿童癫痫的易感 性有关。

Abstract:

Objective To investigate the association between the C588T single nucleotide polymorphism of GABAARG2 gene and epilepsy susceptibility in Han children in northern China. Methods A total of 189 children with epilepsy who came to our pediatric clinic and/or hospitalization from March 2013 to June 2018 were selected as subjects. According to the types of epileptic seizures, subjects were divided into partial seizure group (n = 107) and generalized seizure group (n = 82). At the same time, 113 non-epileptic children were selected as control group. General clinical data of all patients were collected. Genomic DNA was extracted from peripheral blood of all subjects, and the C588T polymorphism of GABAARG2 gene was identified by PCR amplification. Genotype and allele frequencies of this locus were determined and analyzed statistically. Results There were significant differences in the average course of disease and abnormal EEG at 24 hours in three groups (P < 0.05). There were significant differences in genotypes of CC, CT and TT and allele C and T frequencies in three groups (P < 0.05). Compared with CC genotype, the risk of epilepsy induced by CT genotype was 2.127 times (95% CI: 1.23, 3.615, P < 0.05) and TT genotype was 3.926 times (95% CI: 2.019, 7.51, P < 0.05). Compared with the C allele, the risk of epilepsy induced by T allele was 2.191 times (95% CI:1.554, 3.094, P < 0.05). Conclusions The single nucleotide polymorphism of GABAARG2 gene C588T is associated with susceptibility to epilepsy in children.