Association of mammalian target of rapamycin gene polymorphisms with the risk of pediatric epilepsy.
- Author:
Xin YUE
1
;
Pei-Wei ZHAO
;
Zhi-Sheng LIU
;
Ge-Fei WU
;
Fei TU
;
Jia-Sheng HU
;
Xue-Lian HE
Author Information
- Publication Type:Journal Article
- MeSH: Epilepsy; etiology; genetics; Gene Frequency; Genetic Predisposition to Disease; Genotype; Humans; Polymorphism, Single Nucleotide; Risk; TOR Serine-Threonine Kinases; genetics
- From: Chinese Journal of Contemporary Pediatrics 2015;17(6):560-564
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo 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.
METHODSA 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.
RESULTSThere 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).
CONCLUSIONSSNP rs2536 of mTOR gene may be associated with the risk of pediatric epilepsy.
