华南地区汉族人群心脑血管相关基因多态性分析

摘要

Objective To investigate the genetic polymorphism of cytochrome P450 2C19(CYP2C19) ,cyto‐chrome P450 2C9(CYP2C9) and vitamin K epoxide reductase complex(VKORC1) ,ALDH2 in population of southern China han population .Methods CYP2C19 ,ALDH2 ,CYP2C9 and VKORC1 were detected by microarray method from 252 patients with disease of heart head blood‐vessel .Frequencies of genotypes were calculated ,and those were statisticaled differences between men and women .Results Five genotypes were identified in CYP2C19 ,which were*1/*1(42 .5% ) ,*1/*2(36 .9% ) ,*1/*3(7 .9% ) ,*2/*2(9 .9% ) ,*2/*3(1 .6% ) and *3/*3(1 .2% ) .On‐ly two genotypes were identified in CYP2C9 ,which were *1/*1(98 .6% ) ,*1/*3(1 .4% ) in man and *1/*1 (90 .1% ) ,*1/*3(9 .9% ) in woman .There were statistical difference in men and women in the incidence of geno‐types(P< 0 .05) .Three genotypes were identified in VKORC1 ,which were AA (80 .6% ) ,AG (18 .7% ) and GG (0 .8% ) .Three genotypes were identified in ALDH2 ,which were GG(55 .2% ) ,GL(37 .3% ) ,LL(7 .5% ) .Conclusion Genetic polymorphism distribution related to gender of CYP2C9 ,but distribution of CYP2C19 ,VKORC1 and AL‐DH2 has nothing to do with gender .%目的：了解心脑血管相关基因细胞色素P450酶（CYP）2C19、CYP2C9、维生素K环氧化物还原酶复合体1（VKORC1）和乙醛脱氢酶2（ALDH2）基因的单核苷酸多态性频率在华南地区汉族人群分布的情况。方法采用芯片技术对252例心脑血管疾病患者的CYP2C19、ALDH2、CYP2C9以及 VKORC1位点基因多态性进行检测，并统计男女间基因型频率的差异。结果 CYP2C19的野生型*1／*1占42．5％，突变型*1／*2占36．9％，*1／*3占7．9％，*2／*2占9．9％，*2／*3占1．6％，*3／*3占1．2％，在男女人群间各类基因型的发生率差异无统计学意义（P＞0．05）；CYP2C9只检测到2种等位基因CYP2C9*1／*1和CYP2C9*1／*3，男性基因频率分别为98．6％和1．4％，女性基因频率分别为90．1％和9．9％，在男女人群间的分布差异有统计学意义（P＜0．05）；VKORC1有3种基因型AA、AG和GG ，频率分别为80．6％、18．7％和0．8％，在男女人群间的分布差异无统计学意义（P＞0．05）；ALDH2有3种基因型GG、GL和LL型，频率分别为55．2％、37．3％和7．5％，在男女人群间的分布差异无统计学意义（P＞0．05）。结论 CYP2C9的多态性分布与性别有关，CYP2C19、VKORC1和ALDH2的多态性分布与性别无关。