[Association between glutamate receptor 2 polymorphisms and epilepsy in children].
OBJECTIVE
To 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.


METHODS
A 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.


RESULTS
The frequencies of GG, GA, and AA genotypes of SNP rs9390754 showed a significant difference between the EP and normal control groups (P=0.016). The allele frequency also showed a significant difference between the two groups (P=0.002). The frequencies of CC, CT, and TT genotypes of SNP rs4840200 and allele frequency showed no significant differences between the two groups. The C allele frequency of SNP rs4840200 in the refractory EP subgroup was significantly higher than in the non-refractory EP subgroup (OR=1.435, 95% CI: 1.021-2.016, P=0.037).


CONCLUSIONS
In 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.
Department of Pediatrics, Xianning Central Hospital/First Affiliated Hospital of Hubei University of Science and Technology, Xianning, Hubei 437100, China. Wanzt_xn@163.com.
Xian
X
Wang
Tian-Jiao
TJ
Zhu
Zhi-Ting
ZT
Wan
Xue-Mei
XM
Zhu
D002648:Child; D002675:Child, Preschool; D004827:Epilepsy / Q000209:etiology / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008297:Male; D020641:Polymorphism, Single Nucleotide; D018092:Kainic Acid Receptors / Q000235:genetics*; D012307:Risk Factors; D000097806:GluK2 Kainate Receptor
D018092:Kainic Acid Receptors; D000097806:GluK2 Kainate Receptor