ABCC2基因多态性与耐药性癫痫的相关性分析  

The role of ABCC2 gene in drug-resistant epilepsy

作　　者：杨艳丽[1] 胡曦[1] 舒东[1] 罗秋香[1] 郑福容 吴宗倩 谢冬琼 Yang Yanli;Hu Xi;Shu Dong;Luo Qiuxiang;Zheng Furong;Wu Zongqian;Xie Dongqiong(Department of Neurology, Sichuan Science City Hospital, Mianyang 621000, China)

机构地区：[1]四川省科学城医院神经内科,四川省绵阳621000

出　　处：《中国医师杂志》2018年第6期836-838,843,共4页Journal of Chinese Physician

基　　金：四川省卫生和计划生育委员会科研课题(17PJ097)~~

摘　　要：目的探讨ATP结合盒C亚家族2转运蛋白(ABCC2)基因多态性与耐药性癫痫的关系。方法选取2014年2月至2018年2月在本院治疗的癫痫患者204例,其中耐药性癫痫41例(耐药组),非耐药性癫痫163例(敏感组),检测两组ABCC2基因rs717620位点多态性以及脑脊液、血清P-糖蛋白(P-gp)水平。结果耐药组基因型TT和基因频率T的比例分别为24.39%和41.46%,明显高于敏感组(P<0.05);耐药组脑脊液中P-gp浓度为(21.03±4.21)ng/ml,明显高于敏感组(P <0. 05);耐药组和敏感组血清中P-gp浓度比较差异无统计学意义(P> 0. 05);耐药组基因TT型患者脑脊液P-gp浓度为(24. 03±3. 57)ng/ml,明显高于CC型和CT型(P <0. 05);耐药组不同基因型患者血清P-gp浓度比较差异无统计学意义(P>0.05)。结论 ABCC2基因rs717620位点多态性可能与耐药性癫痫有关,并可能与患者脑脊液P-gp水平有一定相关性。Objective To investigate the role of the ATP binding box C subfamily 2 transporter protein （ABCC2） gene in drug-resistant epilepsy. Methods From February 2014 to February 2018, 204 epileptic patients were treated in our hospital, including 41 cases of drug resistance epilepsy （ drug resistance group） , 163 cases of non drug resistant epilepsy （sensitive group）. The rs717620 polymorphism of ABCC2 gene and the level of P- glycoprotein （P-gp） in cerebrospinal fluid and serum were detected in two groups. Results The proportion of genotype TY and gene frequency T in the drug resistant group were 24. 39% and 41.46% , respectively, which were significantly higher than those in the sensitive group （P 〈 0. 05 ）. The concentration of P-gp in cerebrospinal fluid of drug resistant group was （21.03 ± 4. 21 ） ng/ml, which was significantly higher than that of the sensitive group （ P 〈 0.05 ）. There was no significant differ- ence in serum P-gp concentration between the drug resistant group and the sensitive group （P 〉 0. 05） ; The concentration of P-gp in cerebrospinal fluid of patients with genotype TF in drug resistance group was （ 24. 03 ± 3.57 ） ng/ml, which was significantly higher than that of type CC and CT （ P 〈 0. 05 ）. There was no significant difference in the concentration of P-gp in the patients with different genotypes in the drug resistant group （P 〉 0. 05）. Conclusions The rs717620 polymorphism of ABCC2 gene may be associated with drug-resistant epilepsy, and may be related to P-gp level in the cerebrospinal fluid.

关 键 词：多药耐药相关蛋白质类/遗传学 多态性 单核苷酸 癫痫/遗传学 

分 类 号：R742.1[医药卫生—神经病学与精神病学]