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Association between glutamate receptor 2 polymorphisms and epilepsy in children / 中国当代儿科杂志
Chinese Journal of Contemporary Pediatrics ; (12): 492-495, 2016.
Artículo en Chino | WPRIM | ID: wpr-261203
ABSTRACT
<p><b>OBJECTIVE</b>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.</p><p><b>METHODS</b>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.</p><p><b>RESULTS</b>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).</p><p><b>CONCLUSIONS</b>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.</p>
Asunto(s)
Texto completo: Disponible Índice: WPRIM (Pacífico Occidental) Asunto principal: Factores de Riesgo / Receptores de Ácido Kaínico / Predisposición Genética a la Enfermedad / Polimorfismo de Nucleótido Simple / Epilepsia / Frecuencia de los Genes / Genética / Genotipo Tipo de estudio: Estudio de etiología / Estudio observacional / Factores de riesgo Límite: Niño / Child, preschool / Femenino / Humanos / Masculino Idioma: Chino Revista: Chinese Journal of Contemporary Pediatrics Año: 2016 Tipo del documento: Artículo

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Texto completo: Disponible Índice: WPRIM (Pacífico Occidental) Asunto principal: Factores de Riesgo / Receptores de Ácido Kaínico / Predisposición Genética a la Enfermedad / Polimorfismo de Nucleótido Simple / Epilepsia / Frecuencia de los Genes / Genética / Genotipo Tipo de estudio: Estudio de etiología / Estudio observacional / Factores de riesgo Límite: Niño / Child, preschool / Femenino / Humanos / Masculino Idioma: Chino Revista: Chinese Journal of Contemporary Pediatrics Año: 2016 Tipo del documento: Artículo