中国当代儿科杂志2016，Vol.18Issue(6)：492-495,4.DOI:10.7499/j.issn.1008-8830.2016.06.005
谷氨酸受体2基因多态性与儿童癫癎的相关性
Association between glutamate receptor 2 polymorphisms and epilepsy in children
王娴 1朱天娇 1万致婷 1朱雪梅1
作者信息
- 1. 咸宁市中心医院/湖北科技学院附属第一医院新生儿科，湖北 咸宁 437100
- 折叠
摘要
Abstract
ObjectiveTo investigate the association between two single nucleotide polymorphisms (SNPs), rs9390754 and rs4840200, in the glutamate receptor 2 (GRIK2) gene and the genetic susceptibility to epilepsy (EP) in the Han population in Central China.MethodsA case-control study was performed in 284 EP children (including 132 children with refractory epilepsy) and 315 normal children from Central China. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was used to determine the genotypes of the two SNPs rs9390754 and rs4840200. The genotype frequency was compared between groups.ResultsThe frequencies of GG, GA, and AA genotypes of SNP rs9390754 showed a signiifcant difference between the EP and normal control groups (P=0.016). The allele frequency also showed a signiifcant difference between the two groups (P=0.002). The frequencies of CC, CT, and TT genotypes of SNP rs4840200 and allele frequency showed no signiifcant differences between the two groups. The C allele frequency of SNP rs4840200 in the refractory EP subgroup was signiifcantly higher than in the non-refractory EP subgroup (OR=1.435, 95%CI: 1.021-2.016,P=0.037).ConclusionsIn the Han population in Central China, the polymorphisms of SNP rs9390754 in the GRIK2 gene may be associated with EP susceptibility, and the C allele of SNP rs4840200 may be a genetic risk factor for the development of drug resistance in children with EP.关键词
癫癎/GRIK2基因/多态性/儿童Key words
Epilepsy/GRIK2 gene/Polymorphism/Child引用本文复制引用
王娴,朱天娇,万致婷,朱雪梅..谷氨酸受体2基因多态性与儿童癫癎的相关性[J].中国当代儿科杂志,2016,18(6):492-495,4.
