1043例汉族双相情感障碍患者CYP2C19基因多态性及代谢表型分析

Analysis of CYP2C19 gene polymorphism and metabolic phenotype in 1043 bipolar disorder patients of Han nationality

目的探讨汉族双相情感障碍患者CYP2C19基因多态性及代谢表型的分布,为临床合理用药提供理论参考和指导。方法以DNA微阵列技术检测1 043例双相情感障碍患者的CYP2C19基因多态性及代谢表型(快代谢型,中等代谢型,慢代谢型),用基因计数法计算基因型频率和等位基因频率,同时分析基因多态性发生频率与性别的相关性。结果所有检测对象中,CYP2C19*1/*1、*1/*2、*1/*3、*2/*2、*2/*3、*3/*3基因型的频率分别为40.6%、40.5%、5.2%、9.9%、3.4%、0.5%;CYP2C19基因快代谢型、中等代谢型、慢代谢型3种代谢表型所占比例分别为40.5%、45.8%、13.7%;不同性别之间CYP2C19基因型及代谢表型差异无统计学意义(P>0.05)。结论汉族双相情感障碍人群CYP2C19基因多态性以*1/*1及*1/*2为主,681位点的变异率高于636位点,检测CYP2C19基因多态性及代谢表型有助于临床合理用药。

Objective To investigate the polymorphism of CYP2C19 gene and the distribution of metabolic phenotypes in bipolar disorder patients of Han nationality in Southern China,and the relationship between sex and CYP2C19 gene polymorphism will be explored.Methods DNA microarray was used to detect the CYP2C19 gene polymorphism and metabolic phenotype in 1 043 bipolar disorder patients,gene counting methods were used to calculate the genotype frequency and allele frequency,and the relationship between different gender and the frequency of genetic polymorphism was analyzed.Results Six detected genotype(CYP2C19*1/*1,*1/*2,*1/*3,*2/*2,*2/*3,*3/*3)frequency were 40.6%,40.5%,5.2%,9.9%,3.4%,0.5%,the frequency of 3 metabolic phenotypes(extensive metabolizer,intermediate metabolizer,poor metabolizer)were 40.5%,45.8%,13.7%respectively.There was no significant difference in CYP2C19 genotype and metabolic phenotype between different gender groups.Conclusion *1/*1 and *1/*2 are the main polymorphism of CYP2C19 in bipolar disorder patients of Han nationality,681 loci′s mutation frequency is higher than that of 636,detection of the CYP2C19 gene polymorphism and metabolic phenotypes contribute to the clinical reasonable medication.