中国癫痫患者基因组学研究现状的循证评价

Evidence-based evaluation of genomics research for epileptic patient in China

目的:系统评价我国癫痫患者相关基因的研究现状,为癫痫疾病的诊治提供循证医学证据参考。方法:计算机检索CBM,CNKI,VIP和万方等数据库,检索时间为自建库至2017年10月。纳入评价癫痫疾病相关基因的文献,总结与癫痫患者发病、诊断、治疗和预后的相关基因,对研究的结果进行描述性分析。结果:共纳入175篇文献,发表时间为1999–2016年。筛选出相关基因85种。文献类型主要为:基因与疾病的关系(n=81),基因与耐药性的关系(n=37),基因与血药浓度的关系(n=27),基因与药物疗效的关系(n=11),基因与不良反应的关系(n=9),基因定位或测序(n=6),基因与药物剂量的关系(n=2),相关基因的分布频率与癫痫(n=2)。筛选出相关基因85种,研究结果有55.4%(97/175)阳性结论,31.4%(55/175)阴性结论,2.3%(4/175)不确定结论,另外有8篇文献研究结果为一个阴性,一个阳性结果,有2篇文献研究结果为一个阴性结果,一个不确定结论。结论:癫痫药物基因学的研究众多,关于研究的基因类型复杂多样,涉及的内容主要有基因与疾病,基因与药物以及基因自身的定位测序等。关于基因与药物的疗效和安全性有待更深入的研究。

Objective:To systematically evaluate the current status of epilepsy related genes in China and provide evidence-based references for the diagnosis and treatment of epilepsy.Methods:Studies that assessed the association between related genes and incidence of epilepsy,antiepileptic drug resistance,drug efficacy,adverse reactions,serum concentration,drug dosage and so on were collected by searching CBM,CNKI,VIP and Wanfang databases from inception to October 2017 on the computer.And the genes related with the pathogenesis,diagnosis,treatment and prognosis of epilepsy were summarized.Results of included studies were descriptively analyzed.Results:A total of 175 articles published from 1999 to 2016 were included study samples varied from 2 to 1133 cases.A total of 85 related genes were screened.Enrolled literatures mainly focused on the relationship between genes and disease(n=81),genes and antiepileptic drug resistance(n=37),genes and serum concentrations(n=27),genes and efficacy(n=11),genes and adverse reactions(n=9),gene localization or sequencing(n=6),genes and drug dose(n=2)and distribution frequency of related genes and epilepsy(n=2).A total of 85 genes relatd to epilepsy were involved.For the outcome of gene studies,55.4%(97/175)was positive,31.4%(55/175)was negative and 2.3%(4/175)was indeterminate.In addition,8 papers studied the results for a negative and a positive result.There were 2 papers with a negative result,an indeterminate conclusion.Conclusion:Pharmacogenomics researches on epilepsy developed rapidly and the related genes were diverse and complicated.The study contents involved are extensive including gene and disease,gene and drug,gene localization or sequencing and so on.However research on the relationship between genes and antiepileptic drug effect and safety was relatively rare.Most of the studies are needed to be validated by high-quality and large sample clinical studies.