Association of mammalian target of rapamycin gene polymorphisms with the risk of pediatric epilepsy / 中国当代儿科杂志
Chinese Journal of Contemporary Pediatrics
;
(12): 560-564, 2015.
Artigo
em Chinês
| WPRIM
| ID: wpr-346106
ABSTRACT
<p><b>OBJECTIVE</b>To study the association between two single nucleotide polymorphisms (SNP), rs2295080 and rs2536, in mammalian target of rapamycin (mTOR) gene and the susceptibility to pediatric epilepsy.</p><p><b>METHODS</b>A case- control study was performed on 480 children with epilepsy (116 cases of refractory epilepsy) and 503 healthy children. SNP rs2295080 and rs2536 in the mTOR gene were detected by polymerase chain reaction restriction and fragment length polymorphisms (PCR-RFLP). Genotype and allele frequencies of SNP rs2295080 and rs2536 were compared between the children with epilepsy and healthy controls.</p><p><b>RESULTS</b>There were no significant differences in the genotype and allele frequencies of SNP rs2295080 between the children with epilepsy and healthy controls. There were no significant differences in the genotype frequencies of SNP rs2536 between the two groups either, but the frequency of G allele of SNP rs2536 was higher in children with epilepsy than that in healthy controls (P=0.042, OR=1.344, 95%CI 1.010-1.789).</p><p><b>CONCLUSIONS</b>SNP rs2536 of mTOR gene may be associated with the risk of pediatric epilepsy.</p>
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Risco
/
Predisposição Genética para Doença
/
Polimorfismo de Nucleotídeo Único
/
Epilepsia
/
Serina-Treonina Quinases TOR
/
Frequência do Gene
/
Genética
/
Genótipo
Tipo de estudo:
Estudo de etiologia
/
Estudo observacional
/
Fatores de risco
Limite:
Humanos
Idioma:
Chinês
Revista:
Chinese Journal of Contemporary Pediatrics
Ano de publicação:
2015
Tipo de documento:
Artigo
Similares
MEDLINE
...
LILACS
LIS