NRG1基因多态性与部分性癫痫易感性关系的研究  

Association between NRG1 polymorphisms and partial epilepsy

作　　者：朱文叶 江沛[1,2] 李焕德[1] 何昕[1,2] 张丽虹[1,2] 党瑞丽[1,2] 

机构地区：[1]中南大学湘雅二医院临床药学研究所,长沙410011 [2]中南大学药学院,长沙410013

出　　处：《中南药学》2015年第5期464-468,共5页Central South Pharmacy

基　　金：中南大学中央高校基本科研业务费专项资金资助(No.2014zzts322)

摘　　要：目的研究湖南地区汉族人群神经调节因子1(NRG1)基因多态性与部分性癫痫易感性的关系。方法应用病例对照遗传关联研究设计,采用PCR-LDR技术检测方法,检测并分析167例部分性癫痫患者和150例性别、民族匹配的正常对照者中NRG1基因的3个单核苷酸多态性(SNPs)位点与部分性癫痫发病的关联。结果 NRG1基因的1个SNP多态性位点与部分性癫痫关联(rs35753505,T>C,P=0.018),且突变纯合子C/C携带者患部分性癫痫的危险是野生型纯合子T/T的2.217倍。然而,其余2个SNPs与部分性癫痫不相关。结论携带SNP rs35753505突变纯合子型C/C基因型者部分性癫痫的易感性增加,NRG1基因多态性可能与部分性癫痫发病机制相关。Objective To determine the effect of the Neuregulin-1 （NRG1） polymorphisms on partial epilepsy. Methods Three single nucleotide polymorphisms （SNPs） of NRG1 gene in 167 patients with partial epilepsy and 150 healthy persons were analyzed by the PCR-LDR genotyping methods. Results One SNP was found to be associated with partial epilepsy, rs35753505, T 〉 C （P = 0.018）. The risk of C/C genotype suffering from partial epilepsy was 2.217-folds higher than that of T/T. However, no statistically significant association was found between rs6994992, rs62510682 polymorphisms and partial epilepsy. Conclusion The susceptibility of partial epilepsy carrying SNP rs35753505 mutation homozygous has increased. NRG1 polymorphisms might play an important role in the susceptibility to partial epilepsy.

关 键 词：神经调节因子1 部分性癫痫 颞叶癫痫 基因多态性 

分 类 号：R742.1[医药卫生—神经病学与精神病学]