EPHX1基因多态性与中国汉族癫痫患者服用卡马西平所致肝损伤的关联分析
Correlation between EPHX1 polymorphisms and the susceptibility of hepatic injury induced by carbamazepine in Chinese Han-ethnic epileptic patients
何晓静 1菅凌燕 1肇丽梅1
作者信息
- 1. 中国医科大学附属盛京医院药学部,辽宁沈阳,110004
- 折叠
摘要
目的:检测中国汉族癫痫患者EPHX1基因型分布特征,探讨EPHX1基因多态性与中国汉族癫痫患者服用卡马西平所致肝损伤的相关性.方法:中国汉族癫痫患者325例,卡马西平(CBZ)耐受患者200例,CBZ不良反应125例;应用聚合酶链反应(PCR)后酶切或直接测序的方法检测EPHX1基因型分布及等位基因频率.结果:中国汉族癫痫患者EPHX1基因型分布均符合H-W平衡.与CBZ耐受患者比较,CBZ不良反应患者EPHX1 T＞C (rs:1051740)突变频率显著升高(P＜0.01)EPHX1 T＞C(rs:1051740)突变是CBZ不良反应的独立危险因素.结论:EPHX1多态性与中国汉族癫痫患者服用卡马西平所致肝损伤有关.
Abstract
OBJECTIVE To study the frequency distribution patterns of EPHX1 polymorphisms and explore the correlation between EPHX1 polymorphisms and the susceptibility of hepatic injury induced by carbamazepine (CBZ) in Chinese Han-ethnic epileptic patients.METHODS We totally collect 325 cases of Chinese Han-ethnic epileptic patients,200 cases with no adverse reactions (CBZ-tolerant group) and 125 cases with adverse reactions (CBZ-ADR group).Polymerase chain reaction-direct sequencing or enzyme-cut methods were used to detect the genotype of EPHX1.RESULTS The distribution of genotypes and genetic frequencies of EPHX1 were all accord to H-W balances (P＞0.05).There was a significant difference in the distribution of genotype of EPHX1 (rs:1051740) between the groups of CBZ-tolerant and CBZ-ADR (P＜0.05).CONCLUSION The patients with EPHX1 T＞C (rs:1051740) might be contributed to the susceptibility of hepatic injury induced by CBZ in Chinese Han-ethnic epileptic patients.
关键词
汉族癫痫患者/卡马西平/肝损伤/EPHX1/基因多态性Key words
Chinese Han-ethnic epileptic patients/carbamazepine/hepatic injury/EPHX1/polymorphism引用本文复制引用
出版年
2014
NETL
NSTL
维普
万方数据