CYP2C19基因多态性与中国汉族人群急性冠脉综合征的相关性研究

目的：探讨细胞色素 P450（CYP）2C19基因常见多态性位点与中国汉族人群急性冠脉综合征（ACS）的相关性。方法提取206例 ACS 患者和232例对照者外周血 DNA，采用 DNA 微阵列芯片法对 CYP2C19*2（681G ＞A）、CYP2C19*3（636G ＞ A）进行基因型检测，对比2组间及不同 ACS 分型患者间基因型及等位基因突变频率的分布差异，同时运用 Logistic 回归分析探讨 ACS 发生的独立危险因素。结果 CYP2C19*1、*2、*3分布比例依次为64.38％、29.46％和6.16％，不同性别人群的等位基因及基因型分布差异无统计学意义（ P ＞0.05）。ACS 组CYP2C19*1/*1的分布频率明显少于对照组（ P ＜0.05），但 CYP2C19*1/*2与 CYP2C19*1/*3的分布频率之和明显高于对照组（ P ＜0.05）。CYP2C19*1/*1所占比例 STEMI 组明显低于 NSTEMI 组（ P ＜0.01），CYP2C19*1/*2的分布频率 NSTEMI 组最低，且与 STEMI 及 UA 组间差异均有统计学意义（ P ＜0.01）。Logistic 回归分析显示CYP2C19*2（681G ＞ A）GA 基因型是中国汉族人群 ACS 发生的独立危险因素（OR ＝5.97，95％ CI 为1.09～12.35， P ＝0.007）。结论 CYP2C19*2（681G ＞ A）GA 基因型可能与中国汉族人群 ACS 风险增高有关。

Correlation between genetic polymorphism of cytochrome P450 2C19 and acute coronary syndromes in Chinese Han population

Objective To investigate the correlation between the genetic polymorphism of cytochrome P450 2C19 and acute coronary syndromes(ACS)in Chinese Han population. Methods The peripheral blood DNA was extracted from 206 patients with ACS(ACS group)and 232 healthy subjects(control group). The genotypes of CYP2C19*2(681G > A), CYP2C19*3(636G > A)were detected by DNA microarray method,and the differences of genotype and allele distribution were observed and compared between the two groups. At the same time,the independent risk factors of ACS occurrence were analyzed by Logistic regression. Results The distribution rates of CYP2C19*1,*2,*3 were 64. 38% ,29. 46% ,6. 16% , respectively,and there were no significant difference in allele and genotype distribution among different gender groups( P >0. 05). The distribution frequency of CYP2C19 *1 / *1 in ACS group was significantly lower than that in control group (32. 03% vs 47. 71% ,P < 0. 05),but the sum of distribution frequency of CYP2C19*1 / *2 plus CYP2C19*1 / *3 was significantly higher than that in control group(54. 36% vs 43. 09% ,P < 0. 05). The proportion of CYP2C19*1 / *1 in STEMI group was significantly lower than that of NSTEMI group( P < 0. 01). As compared with that in STEMI group and UA group,the distribution frequency of CYP2C19*1 / *2 in NSTEMI group was the lowest( P < 0. 01),moreover,the Logistic regression analysis showed that CYP2C19*2(681G > A)GA genotype was an independent risk factor of ACS occurrence in Chinese Han population(OR = 5. 97,95% CI:1. 09 ~ 12. 35,P < 0. 01). Conclusion CYP2C19*2(681G > A)GA genotype may be correlated to high risk of ACS occurrence in Chinese Han population.