重庆地区汉族人群CYP2C19基因多态性分布与不同种族间比较

Distribution of CYP2C19 gene polymorphism of Chinese Han population in Chongqing district and comparison among different races

目的了解重庆地区汉族人群CYP2C19基因多态性分布,比较不同种族间CYP2C19代谢型的分布。方法用基因芯片法检测140例重庆地区汉族健康人群CYP2C19基因多态性,并比较分析不同种族间的CYP2C19代谢型分布。结果在140例重庆地区汉族人群中,*1/*1基因型(636GG,681GG)62例(44.3%),*1/*2基因型(636GG,681GA)57例(40.7%),*1/*3基因型(636GA,681GG)8例(5.7%),*2/*2基因型(636GG,681AA)10例(7.1%),*3/*3基因型(636AA,681GG)0例,*2/*3基因型(636GA,681GA)3例(2.1%);快代谢型62例(44.3%),中代谢型65例(46.4%),慢代谢型13例(9.3%)。CYP2C19代谢型(快、中、慢代谢型)与美洲印第安人、高加索血统种人、黑白混血人种分布比较差异有统计学意义(χ2分别为46.78,24.45,12.29,P均<0.05),与非洲人差异无统计学意义(χ2=3.21,P>0.05)。结论重庆地区汉族人群CYP2C19位点存在基因多态性,与其他种族比较,代谢型分布有差异。

Objective To explore the distribution of CYP2C19 gene polymorphism in healthy Han population and compare the frequen- cies of CYP2C19 gene polymorphism between Han and other ethnic groups. Methods The polymorphism of CYP2C19 gene of 140 subjects were genotyped by gene-ehip method and the metabolic phenotypes of different ethnic groups were analyzed. Results In Han population, the frequencies of CYP2C19 genotype were as follows： ＊ 1/＊ 1 genotype 44.3% （62 cases） , ＊ 1/＊ 2 genotype 40.7% （57 cases）, ＊1/.3 genotype 5. 7% （8 cases）, .2/.2 genotype 7.1% （10 cases）, .3/.3 genotype0, .2/.3 genotype 2.1% （3 eases）. The frequencies of different metabolizer were as follows： extensive metabolizer 44.3% （62 cases）, intermediate metabolizer 46.4% （65 cases） , poor metabolizer 9.3% （ 13 cases）. Compared with Amerindian, Caucasian descent and Mulatto, the frequency distributions of CYP2C19 metabolic phenotype showed statistically significant difference （X2 = 46.78, 24.45, 12.29, P 〈 0.05）. Conclusion CYP2 C19 polymorphism existed in Han population of Chongqing district, and its frequency distributions were dif- ferent from other ethnic groups,