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

YANG Jing; YANG Chun-song; HUANG Liang; YU Dan

doi:10.3969/j.issn.1672-8157.2018.02.001

Abstract：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.