KCNJ10基因rs1890532单核苷酸多态性与儿童癫痫易感性的相关性研究

目的探讨中国北方汉族儿童中KCNJ10基因rs1890532单核苷酸多态性与癫痫的关系。方法 212例癫痫患儿作为病例组,按照癫痫发作类型分为部分性发作(partial Seizures,PS)组120例和全面性发作(generalized seizures,GS)组和92例,同时选择200例非癫痫儿童作为对照组,收集一般临床资料,采用聚合酶链反应-限制性片段多态性法检测KCNJ10基因rs1890532单核苷酸多态性,分析其与癫痫易感性的关系。结果校正年龄、性别等混杂因素后,KCNJ10基因rs1890532位点单核苷酸多态性与儿童GS在等位基因模型(C/G)和隐性基因模型[(CC+CG)/GG)]下整体效应具有统计学意义(OR=1.325,95%CI:1.014~2.461,P=0.043;OR=3.173,95%CI:1.097~10.694,P=0.021)。对照组与病例组、PS组比较,等位基因和基因型频率差异均无统计学意义(均P0.05)。结论 KCNJ10基因rs1890532单核苷酸多态性可能与儿童GS遗传易感性相关。

Association between polymorphism of KCNJ10 rs1890532 and susceptibility of epilepsy in children

Objective To investigate the genetic association between KCNJ10 rs1890532 gene polymorphism and susceptibility to children epilepsy in the Han descent population in the Northern China. Methods Two hundred twelve children with epilepsy were recruited as the epilepsy group. According to seizure types, they were divided?into partial seizures (PS) group (120 cases) and generalized seizures (GS) group (92 cases). Two hundred healthy volunteers without epilepsy were randomly selected from our hospital during the same period as the control group. General clini-cal data was collected and genotype was determined by polymerase chain reaction- restriction fragment length poly-morphism for the polymorphism of the KCNJ10 gene. Results Results showed that KCNJ10 rs1890532 gene polymor-phism was significantly associated with GS in children in both allelic association analysis (OR=1.325, 95%CI 1.014~2.461, P=0.043) and recessive model (OR=3.173, 95%CI 1.097~10.694, P=0.021) after adjustment for sex and age. There was no significant difference in any genetic model between the control group and epilepsy group, neither be-tween the control group and PS group. Conclusion Polymorphism of the KCNJ10 (rs1890532) gene may be associated with the risk of GS in children.