MDR1基因多态性与癫痫性脑病耐药相关性研究  

A Study between the Association of MDR1 Gene Polymorphism and drug resistance in Epileptic Encephalopathy

作　　者：殷小静[1] 李岩[2] 乔平云 张君[1] 肖海[2] 高丽[2] Yin Xiaojing;Li Yan;Qiao Pingyun(Affiliated Children’s Hospital of Zhengzhou University,Henan children's Hospital,Department of Neurology;Department of Pediatrics,Henan Provincial People's Hospital)

机构地区：[1]郑州大学附属儿童医院、河南省儿童医院、郑州儿童医院神经内科,郑州45000 [2]河南省人民医院儿科

出　　处：《立体定向和功能性神经外科杂志》2021年第2期79-85,共7页Chinese Journal of Stereotactic and Functional Neurosurgery

摘　　要：目的探讨多药耐药基因1(MDR1)单核苷酸多态性与癫痫性脑病耐药的相关性。方法收集2015年12月至2018年3月就诊的癫痫性脑病患儿71例及药物敏感患儿75例,应用PCR技术及DNA测序方法对rsl922242、rs2235048、rsl0808072、rs868755、rsl202184单核苷酸位点进行基因分型。结果5个基因单核苷酸多态性位点等位基因频率比较,P值均>0.05,差异均无统计学意义。5个基因单核苷酸多态性位点基因型在三种模型:共显性模型、显型模型、隐性模型比较后发现P值均>0.05,差异也无统计学意义。在SHEsis软件进行单体型分析时发现9种常见的单体型,其中T-T-G-C-A单体型频率风险明显偏高,P=0.002<0.05,差异有统计学意义,OR值[95%CI]为3.261[1.513~7.030],该单体型可能与癫痫性脑病耐药存在相关性。结论MDR1基因多态性位点等位基因频率及基因型频率与癫痫性脑病耐药无关。T-T-G-C-A单体型与癫痫性脑病耐药具有相关性。通过MDR1基因单体型分析可以在药物治疗前预测抗癫痫药物的反应。Objective To investigate the relationship between single nucleotide polymorphism of multidrug resistance gene 1(MDR1) and drug resistance in epileptic encephalopathy.Methods 71 children with epilepsy encephalopathy and 75 children with drug sensitivity were collected from December 2015 to March 2018.The single nucleotide loci of rsl922242,rs2235048,rsl0808072,rs868755 and rsl202184 were genotyped by PCR and DNA sequencing.Results The allele frequencies of 5 SNPs were all higher than 0.05(P>0.05).There was no significant difference among the five genotypes in three models: codominant model, dominant model and implicit model.Nine common haplotypes were found in the haplotype analysis of SHEsis software, among which the frequency risk of T-T-G-C-A haplotype was significantly higher, P= 0.002 <0.05,the difference was statistically significant, OR value[95% CI] was 3.261 [1.513 ~ 7.030],which may be related to the resistance of epileptic encephalopathy.Conclusion The allele frequency and genotype frequency of MDR1 gene polymorphism were not related to drug resistance in epileptic encephalopathy.T-T-G-C-A haplotypes may be associated with drug resistance in epileptic encephalopathy.MDR1 haplotype analysis can predict the response of antiepileptic drugs before drug treatment.

关 键 词：MDR1基因 癫痫性脑病 单体型 相关性 

分 类 号：R742.1[医药卫生—神经病学与精神病学]