腺苷A1受体基因多态性与浙南汉族人群部分性发作癫痫耐药的相关性  

The association of adenosine A1 receptor gene variants with the multidrug-resistant partial seizure epilepsy

作　　者：徐惠琴[1] 欧福勇[2] 那仁.满都拉 涂东佩[1] 郑荣远[1] 陈江帆[3] 陈必成[4] 陈玉军[1] 

机构地区：[1]温州医科大学附属第一医院神经内科,浙江温州325015 [2]郴州市第一人民医院神经内科,湖南郴州423000 [3]温州医科大学附属眼视光医院,浙江温州325027 [4]温州医科大学附属第一医院移植科,浙江温州325015

出　　处：《温州医学院学报》2014年第2期100-104,共5页Journal of Wenzhou Medical College

基　　金：温州医学院校外引进人才基金资助项目(QTJ11011)

摘　　要：目的:探讨腺苷A1受体(A1AR)基因rs903361、rs10920573及rs3766553多态性与浙南汉族人群部分性发作癫痫耐药的相关性。方法:选取120例部分性发作癫痫患者(癫痫耐药组和非耐药组各60例)及正常对照组(正常组)60例。采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)法检测A1AR基因rs903361、rs10920573和rs3766553的多态性,并通过病例对照研究及logistic回归分析方法分析其与癫痫耐药的相关性。结果:所有入组人群三个位点等位基因C和T分布,正常组与非耐药组三个位点各基因型分布差异均无统计学意义;耐药组rs903361 CT型分布频率低于非耐药组(P=0.017),而rs10920573 CT型分布频率高于非耐药组(P=0.010),差异均具有统计学意义;rs3766553基因型分布各组差异均无统计学意义;rs903361 CC型、TT型耐药的危险性分别为CT型的2.730倍和2.609倍,P值分别为0.043和0.047;rs10920573的CT型耐药危险性为TT型的2.572倍(P=0.036);rs903361 CC型、rs903361 TT型、rs10920573 CT型均为耐药的独立危险因素。结论:A1AR基因的rs903361 CC型、TT型和rs10920573 CT型为浙南汉族人群部分性发作癫痫耐药产生的独立危险因素。Objective： To explore the association of the single-nucleotide polymorphisms （SNP） of adenos-ine A 1 receptor （A 1AR） gene with partial pharmacoresistance seizure in south of Zhejiang province Han population. Methods： One hundred and twenty cases of partial seizure patients were obtained for this study, multidrug- resistant group and full controlled with no seizures group （followed： named the none pharmacoresistance group） each 60 cases, and 60 healthy patients as normal control group. A polymerase chain reaction-restriction fragment length polymorphism （PCR-RFLP） was used for the detection of rs903361, rs10920573, rs3766553 SNP, via the retrospective case-control study and multiple logistic regression analysis methods to explore its correlation of drug resistance epilepsy. Rusuits： Both the frequencies of the allelic of all SNPs among the three group and genotypes of three SNPs between the normal control and none pharmacoresistance group had no statistical difference. The frequency of rs903361 CT genotype in pharmacoresistance epilepsy patients was obviously lower than in the none pharmacoresistance group, P=0.017. The frequency of rs10920573 CT genotypes in pharmacoresistance epilepsy patients was obviously higher than in the none pharmacoresistance group, P=0.010. According to the multiple logistic regression analysis, the CC and TT genotypes in rs903361 were both the independent risk factor for pharmcoresistance in epileptic patients and associated with a 2.73 and 2.609 times added risk for pharmacoresistance than CT genotype, P=0.043 and 0.047 respectively. In rs10920573, CT genotype was also anindependent risk factor for pharmcoresistance in epileptic patients,and associated with a 2.572 times increased risk for pharmacoresistance than TT genotype, P=0.037. There was no difference among all rs3766553 genotypes. Conclusion： The CC and TT genotypes of rs903361 and the CT of rs10920573 are both the independent risk factors associated with mulltidrug-resistant partial seizure epilepsy.

关 键 词：多态性 单核苷酸 癫痫 耐药 腺苷A1受体 

分 类 号：R742.1[医药卫生—神经病学与精神病学]