title: [Association of mammalian target of rapamycin gene polymorphisms with the risk of pediatric epilepsy].
abstract: OBJECTIVE
  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.
  
  
  METHODS
  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.
  
  
  RESULTS
  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).
  
  
  CONCLUSIONS
  SNP rs2536 of mTOR gene may be associated with the risk of pediatric epilepsy.
authors.affiliation: Clinical Research Center, Wuhan Children's Hospital, Wuhan 430016, China. hexuelian2013@hotmail.com.
authors.forename: Xin
authors.initials: X
authors.lastname: Yue
authors.forename: Pei-Wei
authors.initials: PW
authors.lastname: Zhao
authors.forename: Zhi-Sheng
authors.initials: ZS
authors.lastname: Liu
authors.forename: Ge-Fei
authors.initials: GF
authors.lastname: Wu
authors.forename: Fei
authors.initials: F
authors.lastname: Tu
authors.forename: Jia-Sheng
authors.initials: JS
authors.lastname: Hu
authors.forename: Xue-Lian
authors.initials: XL
authors.lastname: He
mesh_terms: D004827:Epilepsy / Q000209:etiology / Q000235:genetics*; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D020641:Polymorphism, Single Nucleotide; D012306:Risk; D058570:TOR Serine-Threonine Kinases / Q000235:genetics*
chemical_list: C546842:MTOR protein, human; D058570:TOR Serine-Threonine Kinases