温州地区汉族人群CYP2C19和CYP2C9基因多态性分析

目的：研究温州地区汉族人群CYP2C19、CYP2C9基因多态性分布。方法：采用聚合酶链式反应和测序方法，对287例健康人群CYP2C19、CYP2C9基因多态性进行分析。结果：温州地区汉族人群的CYP2C19*1、CYP2C19*2和CYP2C19*3三种等位基因的频率分别为65.16%、29.27%和5.57%；CYP2C19*1/*1、CYP2C19*1/*2、CYP2C19*1/*3、CYP2C19*2/*3、CYP2C19*2/*2和CYP2C19*3/*3基因型的频率分别为44.95%、33.45%、6.97%、4.18%、10.45%和0.00%，弱代谢率为14.63%；CYP2C9*1和CYP2C9*3等位基因频率分别为97.74%和2.26%，CYP2C9*1/*1和CYP2C9*1/*3的基因频率为95.47%和4.53%，未发现CYP2C9*3/*3。结论：温州地区汉族人群CYP2C19和CYP2C9弱代谢率与已报道的汉族人群基本一致，与日本人群相近，显著高于欧美人群。

Analysis of genetic polymorphism of CYP2C19 and CYP2C9 in Wenzhou Han population

Objective: To investigate distribution status of CYP2C19 and CYP2C9 genotype in Wenzhou Han population. Methods: The CYP2C19 and CYP2C9 genotype of 287 Wenzhou Han Chinese were determined by sequencing. Results: In Wenzhou Han population, CYP2C19*1, CYP2C19*2 and CYP2C19*3 allele frequencies were 65.16%, 29.27% and 13.6%, respectively; CYP2C19*1/*1, CYP2C19*1/*2, CYP2C19*1/*3, CYP2C19*2/*3, CYP2C19*2/*2 and CYP2C19*3/*3 genotype frequencies were 44.95%, 33.45%, 6.97%, 4.18% and 0.00%, respectively. The frequency of CYP2C19 poor metabolisms was 14.63%; CYP2C9*1 and CYP2C9*3 allele frequencies were 97.74% and 2.26%, respectively; CYP2C9*1/*1 and CYP2C9*1/*3 genotype frequencies were 95.47% and 4.53%, respectively, CYP2C9*3/*3 homozygous genotype was not found in this study. Conclusion: The frequencie of CYP2C19 and CYP2C9 poor metabolisms are similar to those of Japanese population, whereas they are significantly different from America-European populations.