Polymorphisms in the receptor for advanced glycation end products gene are associated with susceptibility to drug-resistant epilepsy
Polymorphisms in the receptor for advanced glycation end products gene are associated with susceptibility to drug-resistant epilepsy
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晚期糖基化终末产物基因受体多态性与耐药性癫痫易感性相关
DOI：
10.1016/j.neulet.2016.01.043
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发表时间：
2016-04-21
影响因子：
2.5
通讯作者：
Li, Keshen
中科院分区：
文献类型：
--
作者：
Guo, Mingxing;Wang, Jiafeng;Li, Keshen
越来越多的证据表明，炎症在癫痫（EP）中起着重要作用。作为免疫球蛋白超家族的细胞表面分子，晚期糖基化终末产物受体（receptor for advanced glycation end products，RECEPTOR）参与炎症相关疾病的发生。调节元件和/或配体结合区的功能多态性的ESTA可能会改变ESTA的表达和功能，从而影响EP的易感性。在这里，我们已经确定了一个新的关联在ESTG 82 S基因座和EP（p = 0.033）的遗传变异使用病例对照研究在中国人群。进一步分析发现，与对照组相比，耐药癫痫（drug-resistant epilepsy，DRE）患者中82 S+基因型和S等位基因的频率明显高于药物敏感性癫痫（drug-responsive epilepsy，EP）患者。-374 T/A和-429 T/C位点与EP无相关性，但T-A-A单倍型在DRE组和对照组中的频率差异有统计学意义（OR= 1.696，95% CI：1.188-2.420，P=0.003）。我们的研究提供了初步证据表明，G82 S多态性与DRE风险增加，G82 S基因座的GS基因型是中国人群中DRE的危险因素。(C)2016爱思唯尔爱尔兰有限公司版权所有。
Increasing evidence has demonstrated that inflammation plays an important role in epilepsy (EP). As a cell-surface molecule of the immunoglobulin superfamily, the receptor for advanced glycation end products (RAGE) is involved in inflammation-related disease. Functional polymorphisms in the regulatory elements and/or ligand-binding regions of RAGE may alter the expression and function of RAGE, thus affecting EP susceptibility. Here, we have identified a novel association between genetic variants in the RAGE G82S locus and EP (p = 0.033) using a case-control study in a Chinese population. Further analyses showed that the 82S+ genotype and S allele were more common in patients with drug-resistant epilepsy (DRE) than in those with drug-responsive EP compared with controls. The loci-374T/A and -429 T/C did not demonstrate any association with EP, but the haplotype T-A-A exhibited significantly different frequencies between DRE patients and controls (OR= 1.696, 95% CI: 1.188-2.420, P=0.003). Our study provides preliminary evidence that the G82S polymorphism in RAGE is associated with increased DRE risk and that the GS genotype of the G82S locus is a risk factor for DRE in the Chinese population. (C) 2016 Elsevier Ireland Ltd. All rights reserved.