mTOR基因多态性与小儿癫癎易感性的相关性

Association of mammalian target of rapamycin gene polymorphisms with the risk of pediatric epilepsy

目的：探讨哺乳动物雷帕霉素靶蛋白（mTOR）基因两个SNP位点rs2295080和rs2536的多态性与小儿癫癎易感性的关系。方法采用病例对照研究，选取480例癫癎患儿（包括116例难治性癫癎）以及503例健康儿童作为研究对象。利用PCR-RFLP方法进行两个SNP位点的多态性检测，比较两组儿童基因型及等位基因的分布频率。结果癫癎组SNP位点rs2295080的基因型（TT、TG、GG）频率和等位基因频率与健康对照组比较差异均无统计学意义（P〈0.05）；SNP位点rs2536的基因型（AA、AG、GG）频率两组比较差异亦无统计学意义（P〉0.05），但癫癎组的等位基因G频率显著高于健康对照组（OR=1.344，P=0.042，95%CI：1.010~1.789）。结论 mTOR基因SNP位点rs2536与癫癎的易感性可能相关。

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 signiifcant differences in the genotype and allele frequencies of SNP rs2295080 between the children with epilepsy and healthy controls. There were no signiifcant 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.