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基因多态性与苯妥英治疗后癫痫疗效之间的关联。

Association between genetic polymorphism and the effect on epilepsy following phenytoin treatment.

作者信息

Sun Fei, Cao Bo-Qiang, Wang Bo, Wu Shi-Qiang, Jiang De-Hua

机构信息

Department of Neurosurgery, Xuzhou Central Hospital, Xuzhou, Jiangsu 221009, P.R. China.

Department of Pharmacy, Xuzhou Central Hospital, Xuzhou, Jiangsu 221009, P.R. China.

出版信息

Exp Ther Med. 2016 Sep;12(3):1780-1784. doi: 10.3892/etm.2016.3553. Epub 2016 Jul 27.

Abstract

The aim of the study was to analyze the effect of genetic polymorphisms on the efficacy of phenytoin (PHT) treatment in epilepsy patients. In total, 200 epilepsy patients who were administered PHT were divided into the responsive and pharmaco-resistance groups depending on the clinical data of PHT treatment in epilepsy patients. The serum concentration of PHT was detected by high-performance liquid chromatography (HPLC). polymorphisms were analyzed by the polymerase chain reaction restriction-fragment length polymorphism method. The C1236T, C3435T and G2677T/A haplotypes were reconstructed for the gene using SHEsis programs. One-way analysis of variance was used for data analysis. In C1236T, the rate of the CC genotype in pharmaco-resistance (17.5%) was higher than that of the responsive group (2.1%), while the rate of the TT genotype in pharmaco-resistance (41.6%) was lower than that of the responsive group (55.4%) (P<0.05). In G2677T/A, the rate of the GG genotype in pharmaco-resistance (29.6%) was higher than that of the responsive group (9.7%), while the rate of the TT genotype in pharmaco-resistance (4.6%) was lower than that of the responsive group (30.4%) (P<0.05). The rate of the TTC haploid in pharmaco-resistance (24.1%) was higher than that of the responsive group (8.8%) (P<0.05). The PHT serum concentration had no statistical significance in the patients with different genotypes. In conclusion, there was no association between genetic polymorphism and PHT serum concentration, although the polymorphisms affected the efficacy of PHT treatment in patients with epilepsy.

摘要

本研究旨在分析基因多态性对癫痫患者苯妥英钠(PHT)治疗疗效的影响。总共200例接受PHT治疗的癫痫患者根据癫痫患者PHT治疗的临床数据分为反应性组和药物抵抗组。采用高效液相色谱法(HPLC)检测PHT的血清浓度。通过聚合酶链反应-限制性片段长度多态性方法分析多态性。使用SHEsis软件重建该基因的C1236T、C3435T和G2677T/A单倍型。采用单因素方差分析进行数据分析。在C1236T中,药物抵抗组CC基因型的比例(17.5%)高于反应性组(2.1%),而药物抵抗组TT基因型的比例(41.6%)低于反应性组(55.4%)(P<0.05)。在G2677T/A中,药物抵抗组GG基因型的比例(29.6%)高于反应性组(9.7%),而药物抵抗组TT基因型的比例(4.6%)低于反应性组(30.4%)(P<0.05)。药物抵抗组TTC单倍型的比例(24.1%)高于反应性组(8.8%)(P<0.05)。不同基因型患者的PHT血清浓度无统计学意义。总之,基因多态性与PHT血清浓度之间无关联,尽管这些多态性影响癫痫患者PHT治疗的疗效。

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