Kir4.1和AQP4基因多态性与颞叶癫痫遗传易感性的关系

 目的 探讨在星形胶质细胞中高表达的两个基因Kir4.1和AQP4多态性与颞叶癫痫遗传易感性的关系。方法 采用病例-对照研究策略，以中国汉族人群438例颞叶癫痫患者和695例非癫痫受试者为研究对象，应用TaqMan法检测Kir4.1和AQP4基因的多态性.。结果 共选择Kir4.1基因上的5个SNP位点以及AQP4基因上的7个SNP位点，在病例组和对照组的基因型分布均符合Hardy-Weinberg平衡，这些多态性位点与颞叶癫痫之间并无相关性，基因单倍型与疾病的关联无显著性的差异，结合临床表型进行分层分析，亦未有显著差异。结论 在中国汉族人群中，Kir4.1和AQP4基因多态性在颞叶癫痫的发生和发展过程中无重要作用。

Relationship between polymorphism of Kir4.1 and AQP4 and temporal lobe epilepsy in a Chinese Han Population

Objective To investigate the relationship between the genetic polymorphisms of Kir4.1 and AQP4 and the susceptibility to temporal lobe epilepsy (TLE). Methods A real time polymerase chain reaction based on TaqMan-BHQ probes was used to identify the SNPs in the two genes in 438 TLE patients and 695 matched controls from Chinese Han origins. Results Five SNPs in Kir4.1 and seven SNPs in AQP4 were selected. There was no statistically significant difference between TLE and control groups. Haplotype analysis was also performed and no significant difference was found. Whether the single SNP was associated with TLE phenotypes including hippocampus sclerosis and febrile seizure was also investigated, but no significant association was detected. Conclusions These results suggested that polymorphisms of Kir4.1 and AQP4 might have no important roles in TLE occurrence and development.