CYP2C9基因多态性及其功能意义研究进展

细胞色素氧化酶P450 2C9（CYP2C9）是人类肝脏中一种重要药物代谢酶系统,代谢约10%临床上常用药物,特别是包括一些治疗指数较窄的药物。CYP2C9基因具有高度多态性,在基因编码区和非编码存在许多单碱基突变。到目前为止,新发现并已被命名的有CYP2C9＊7-＊30。本综述从基因结构-功能关系、突变等位基因在体内和体外的功能意义以及突变等位基因在人群和种族间的分布频率等方面总结了目前已知的突变等位基因最新研究进展。

Advances in study of CYP2C9 gene polymorphisms and its functional significances

Cytochrome P-450 2C9（CYP2C9） is a major drug-metabolizing enzyme in human liver and contributes to metabolism of about 10% of therapeutically usual drugs,including one with narrow therapeutic index.The human CYP2C9 gene is highly polymorphic,having many single nucleotide polymorphisms in promoters and coding regions.To date,at least 30 non-synonymous CYP2C9 alleles have been identified.This review summarizes recent advances in the study of CYP2C9 about the structure-function relationship,the functional significance of various CYP2C9 alleles in vitro and in vivo,and the frequency of CYP2C9 alleles among different populations.