中文摘要：

目的 观察急性冠脉综合征（acute coronary syndrome,ACS）患者CYP2C19＊2、CYP2C19＊3基因多态性与氯吡格雷抵抗及中医证型分布的相关性。方法 2014年6月—2015年3月采集229例ACS患者的外周血,提取基因组DNA,并进行扩增及测序,分别进行CYP2C19＊2、CYP2C19＊3基因多态性与氯吡格雷抵抗及中医证型分布的相关性分析,基因型频率和等位基因频率采用基因计数法及单样本K-S检验,基因型与中医证型分布的关系行Pearson相关性检验。结果 （1）CYP2C19＊2基因多态性分布：CYP2C19＊2（A/A,突变纯合子）12例,占总病例数的5.2%;CYP2C19＊2（G/A,杂合子）93例,占总病例数的40.6%;CYP2C19＊2（G/G,正常纯合子）124例,占总病例数的54.2%。突变等位基因频率为0.255。（2）CYP2C19＊3基因多态性分布：CYP2C19＊3（A/A）0例;CYP2C19＊3（G/A）26例,占总病例数的11.4%;CYP2C19＊3（G/G）203例,占总病例数的88.6%。突变等位基因频率为0.056。（3）CYP2C19基因多态性与氯吡格雷抵抗的相关性：CYP2C19＊2基因突变纯合子较杂合子及正常纯合子更易出现氯吡格雷抵抗（R=0.30,P〈0.01）;CYP2C19＊3基因杂合子与正常纯合子比较,同样易于出现氯吡格雷抵抗（R=0.34,P〈0.01）。（4）229例患者中医证型分布如下：心血瘀阻证33例（14.41%）,气虚血瘀证51例（22.27%）,气滞血瘀证92例（40.18%）,痰阻心脉证17例（7.42%）,阴寒凝滞证8例（3.49%）,气阴两虚证13例（5.68%）,心肾阴虚证5例（2.18%）,阳气虚衰证10例（4.37%）。（5）CYP2C19＊2基因型与中医辨证分型的分布呈显著相关（R=0.26,P〈0.01）,突变纯合子和大多数杂合子患者均辨证为气滞血瘀证。结论 229例ACS患者CYP2C19基因多态性与临床氯吡格雷抵抗关系密切,其发生率与CYP2C19＊2、CYP2C19＊3基因突变频次相关。血瘀证（气滞血瘀证、气虚血瘀证、心血瘀阻证）为ACS的主要表现证型,且气滞血瘀证?

英文摘要：

Objective To observe correlation between CYP2C19＊2/CYP2C19＊ 3 gene polymorphism with clopidogrel resistance and distribution of Chinese medicine （CM） syndrome in acute coronary syndrome （ACS） population. Methods Peripheral blood was collected from 229 ACS patients from June 2014 to March 2015. DNAs were extracted, amplified, and sequenced. Correlations between CYP2C19 ＊2/CYP2C19 ＊3 gene polymorphisms and clopidogrel resistance/distribution of CM syndrome were analyzed. Gene frequency and allele frequency were tested using gene counting and one-sample K-S test. Correlation between gene types and distribution of CM syndrome was tested by Pearson corre-lation test. Results （1） The CYP2C19 92 polymorphism distribution： CYP2C19 ＊2（A/A） （mutant homo- zygous） 12 cases （5.2%）; CYP2C19 92 （G/A） （mutant heterozygote） 93 cases （40.6%）, and CYP2C19 9 2 （G/G） （ normal homozygous） 124 cases （54.2%）. The mutant allele frequency was 0.255. （2） The CYP2C19 93 polymorphism distribution： CYP2C19 93 CA/A） 0 case （0） ; CYP2C19 93 （G/A） 26 cases （11.4%）, and CYP2C19 93 （G/G） 203 cases （88.6%）. The mutant allele frequency was 0.056. （3） Correlation between CYP2C19 gene polymorphism and clopidogrel resistance： Clopidogrel resistance was more liable to occur in mutant homozygous than in mutant heterozygote and normal homozygous （R =0.30, P 〈0.01 ）. Clopidogrel resistance was more liable to occur in mutant heterozygote than in nor- mal homozygous （R =0.34, P 〈0.01 ）. （4） Among the 229 patients, the CM syndrome distribution were distributed as follows. Blockage of Xin vessels syndrome （BXVS, 33 cases, 14.41%）; qi deficiency blood stasis syndrome （QDBSS, 51 cases, 22.27% ）; qi stagnation blood stasis syndrome （QSBSS, 92 cases, 40.18%） ; phlegm obstructing Xin vessel syndrome （POXVS, 17 cases, 7.42%） ; yin-cold coag- ulation syndrome （YCCS, 8 cases, 3.49%）; qi-yin deficiency syndrome （QYDS, 13 cases, 5.68%）; X