Association of KEAP1 and NFE2L2 polymorphisms with temporal lobe epilepsy and drug resistant epilepsy
Association of KEAP1 and NFE2L2 polymorphisms with temporal lobe epilepsy and drug resistant epilepsy
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KEAP1和NFE2L2多态性与颞叶癫痫和耐药性癫痫的关联
DOI：
10.1016/j.gene.2015.06.055
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发表时间：
2015
期刊：
影响因子：
3.5
通讯作者：
Keshen Li
中科院分区：
文献类型：
--
作者：
Zhou Liu;Xiaojian Yin;Lingying Liu;Hua Tao;Haihong Zhou;Guoda Ma;Lili Cui;You Li;Shuyan Zhang;Zhi&39;en Xu;LiFen Yao;Zhiyou Cai;Bin Zhao;Keshen Li
颞叶癫痫（Temporal lobe epilepsy，TLE）是癫痫的一种常见类型。TLE是大多数耐药性癫痫（DRE）病例的原因，与遗传因素有关。Kelch样ECH相关蛋白1（KEAP 1）/核红细胞2相关因子2（称为NFE 2L 2或Nrf 2）的关联已涉及由于诱导抗氧化酶的神经保护作用。为探讨KEAP 1基因单核苷酸多态性（SNP）和NFE 2 L2基因9个SNP与汉族人群TLE和DRE的相关性，对184例TLE患者（包括72例DRE患者）和183例对照者进行了研究。结果ANFE 2L 2基因单倍型是TLE的危险因素（OR = 7.11，95%CI 1.53-32.98）。另外，NFE 2L 2基因的rs 2706110 G > A和KEAP 1基因的rs 1048290 C > G分别对DRE具有显著的危险性和保护作用。结论NFE 2L 2基因的变异增加了TLE和DRE的危险性，而KEAP 1基因的变异对DRE具有保护作用。
Background and aimsTemporal lobe epilepsy (TLE) is a prevalent form of epilepsy. TLE contributes to the majority of drug resistant epilepsy (DRE) cases and is associated with genetic factors. Kelch-like ECH-associated protein 1 (KEAP1)/Nuclear erythroid 2-related factor 2 (known as NFE2L2 or Nrf2) association has been implicated in neuroprotection due to induction of antioxidant enzymes. The association of one singleKEAP1gene nucleotide polymorphism (SNP) and nineNFE2L2gene SNPs with TLE and DRE were examined to determine whether these SNPs influenced the risk of TLE and DRE in a Han population.Subjects and methodsA total of 184 TLE patients (including 72 DRE patients) and 183 controls were included in this analysis. The SNaPshot Multiplex kit was used to assess the genotypes.ResultsANFE2L2gene haplotype was identified as a risk factor for TLE (OR = 7.11, 95% CI 1.53–32.98). Additionally, rs2706110 G > A in theNFE2L2gene and rs1048290 C > G in theKEAP1gene showed a significant risk for and a protective effect against DRE, respectively.ConclusionOur findings suggest that variations inNFE2L2gene increase the risk of TLE and DRE but that variations inKEAP1gene play a protective role for DRE.