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

发布时间：2018-03-13 18:21

本文选题：癫痫　切入点：基因KCNJ　出处：《中国神经精神疾病杂志》2017年06期 　论文类型：期刊论文

【摘要】：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。
[Abstract]:Objective to investigate the relationship between KCNJ10 gene rs1890532 single nucleotide polymorphism and epilepsy in children of Han nationality in northern China. According to the type of epileptic seizure, 120 cases of partial partial Seizures/ PSgroup and 92 cases of generalized seizuressus group were divided into two groups. 200 cases of non-epileptic children were selected as control group, and general clinical data were collected. Polymerase chain reaction-restriction fragment polymorphism (PCR) was used to detect the single nucleotide polymorphism of KCNJ10 gene rs1890532, and the relationship between rs1890532 polymorphism and susceptibility to epilepsy was analyzed. The single nucleotide polymorphism of rs1890532 locus of KCNJ10 gene and the overall effect of GS in children under allelic and recessive gene models (C / G) and recessive gene models (C / G) and recessive gene models (GGG) were statistically significant. There was significant difference between the control group and the case group in the OR3.17395% 1.09797 10.694 P0.021 ~ (th), the control group was compared with the case group (P < 0.05), and there was no significant difference between the control group and the case group (P < 0.05), and there was no significant difference between the control group and the case group (P < 0.05). There was no significant difference in allele and genotype frequency (all P 0.05). Conclusion the single nucleotide polymorphisms of KCNJ10 gene rs1890532 may be associated with the genetic susceptibility of children with GS.
【作者单位】：渭南市妇幼保健院儿科;
【分类号】：R742.1

【参考文献】