Abstract

Objective

Epilepsy is a neurologically based disease. Literature data indicate a certain association between the polymorphism of these genes, which participate in the metabolism of drugs (CYP), and drug-resistant epilepsy.

Aim

The reports describe studies in which an association was evaluated between the rs1799853 (430C > T) and rs1057910 (1075A > C) polymorphisms of CYP2C9 gene and the rs4244285 (c.681G > A) polymorphism of CYP2C19 gene on one hand and the incidence of drug-resistant epilepsy in children on the other.

Material and methods

The above-mentioned polymorphisms were assessed by the PCR-RFLP technique in a group of patients with drug-resistant (n = 106) and drug-responsive (n = 80) epilepsy, as well as in non-epileptic children (n = 97), all of them hospitalised at the Department of Neurology of the Institute-Polish Mother’s Memorial Hospital in Lodz.

Results

It was demonstrated that CT genotype of the rs1799853 polymorphism of CYP2C9 gene and GA genotype of the rs4244285 polymorphism of CYP2C19 gene caused an enhanced risk of epilepsy. It was also shown that the occurrence of C-G-A haplotype, when referred to the rs1799853 polymorphism of CYP2C9 gene and the rs4244285 polymorphism of CYP2C19 gene, could be associated with a decreased risk of epilepsy occurrence. In case of the rs1799853 polymorphism in CYP2C9 gene, the occurrence of T allele four times increases the risk of drug-resistance in patients with diagnosed epilepsy.

Conclusion

The obtained results indicated that the rs1799853 and rs1057910 polymorphisms of CYP2C9 gene and the rs4244285 polymorphism of CYP2C19 gene could be associated with the occurrence of drug-resistant epilepsy in children.

中文翻译：

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CYP2C9的rs1799853和rs1057910多态性、CYP2C19的rs4244285多态性与儿童耐药性癫痫患病率之间的关联

摘要

客观的

癫痫是一种以神经系统为基础的疾病。文献数据表明，这些参与药物代谢的基因（CYP）的多态性与耐药性癫痫之间存在一定的关联。

目标

这些报告描述了一项研究，其中评估了CYP2C9基因的 rs1799853 (430C > T) 和 rs1057910 (1075A > C) 多态性与CYP2C19基因的 rs4244285 (c.681G > A) 多态性之间的关联，以及小儿耐药性癫痫则另当别论。

材料与方法

上述多态性通过 PCR-RFLP 技术在一组耐药（n  = 106）和药物反应性（n  = 80）癫痫患者以及非癫痫儿童（n  = 97 ），他们都在罗兹的波兰母亲纪念医院的神经内科住院。

结果

结果表明，CYP2C9基因rs1799853多态性的CT基因型和CYP2C19基因rs4244285多态性的GA基因型导致癫痫风险增加。还表明，当涉及CYP2C9基因的 rs1799853 多态性和CYP2C19基因的 rs4244285 多态性时，CGA 单倍型的发生可能与癫痫发生风险降低有关。在CYP2C9基因 rs1799853 多态性的情况下，T 等位基因的出现四倍增加了确诊癫痫患者的耐药风险。

结论

所得结果表明CYP2C9基因rs1799853和rs1057910多态性和CYP2C19基因rs4244285多态性可能与儿童耐药性癫痫的发生有关。