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.
Article
en Zh
| WPRIM
| ID: wpr-346106
Biblioteca responsable:
WPRO
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:
1
Base de datos:
WPRIM
Asunto principal:
Riesgo
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Predisposición Genética a la Enfermedad
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Polimorfismo de Nucleótido Simple
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Epilepsia
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Serina-Treonina Quinasas TOR
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Frecuencia de los Genes
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Genética
/
Genotipo
Tipo de estudio:
Etiology_studies
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Observational_studies
/
Risk_factors_studies
Límite:
Humans
Idioma:
Zh
Revista:
Chinese Journal of Contemporary Pediatrics
Año:
2015
Tipo del documento:
Article