组织因子途径抑制物2 (TFPI-2)基因多态性与急性冠脉综合征的关联性

 目的 探讨在中国汉族人群中基因多态性与急性冠脉综合征的关系。方法 采用病例对照研究设计，选择急性冠脉综合征(acute coronary syndrome，ACS)患者140例，其中包括不稳定型心绞痛患者(unstable angina，UA)68例、急性心肌梗死患者(acute myocardium infarction，AMI)72例；另有稳定型心绞痛患者(stable angina，SA)273例；以及正常对照306例。采用聚合酶链反应产物直接测序的方法对所有纳入对象进行组织因子途径抑制物2 (tissue factor pathway inhibitor 2，TFPI-2)基因多态性分析和关联分析。 结果 在所有对象的TFPI-2基因中共检测出8个单核苷酸多态性位点，其中rs59805398和rs34489123位点基因型频率和等位基因频率分布在ACS组和SA组，与对照组间差异有统计学意义。rs3763473、rs59999573、rs59740167、rs34489123位点在ACS组中存在连锁不平衡，与rs59805398位点关联分析提示主要有C-C-G-G-G和T-C-G-G-G两种单倍型。rs59999573、rs59740167、rs34489123位点在SA组中存在连锁不平衡，与rs59805398位点进行关联分析，主要有C-G-G-G和G-A-A-A两种单倍型。ACS组与SA组之间未见明显差异。结论 TFPI-2基因rs59805398位点C等位基因和rs34489123位点A等位基因与冠心病(coronary heart disease，CHD)发病存在关联性,其变异可能是中国人群冠心病发病的危险因子之一。TFPI-2基因SNP在冠心病患者中存在连锁不平衡。

Clinical study of the association between tissue factor pathway inhibitor 2 (TFPI-2) gene polymorphisms and acute coronary syndrome

Objective To investigate the relation of tissue factor pathway inhibitor 2 (TFPI-2) gene polymorphism and acute coronary syndrome (ACS) in Chinese Han population. Methods The polymorphism of TFPI-2 gene was detected by PCR-sequencing in all people recruited,and a case control study was carried out in 3 groups, the ACS group consisted of 140 ACS patients (including 68 unstable angina patients and 72 acute myocardial infarction patients), the SA group included 273 stable angina (SA) patients,and the control group consisted of 306 healthy people. Results Eight single nucleotide polymorphism (SNP) sites were identified in TFPI-2 gene in all subjects, the allele and genotype frequencies were different on the two SNP sites: rs59805398 and rs34489123 among case and control group. Linkage disequilibrium among the SNPs of rs3763473, rs59999573, rs59740167, rs34489123 of TFPI-2 gene was found and C-C-G-G-G and T-C-G-G-G were predominant haplotypes in ACS patients. Linkage disequilibrium among the SNPs of rs59999573, rs59740167, rs34489123 of TFPI-2 gene was found and C-G-G-G and G-A-A-A were predominant haplotypes in SA patients. There was no significant difference between ACS group and SA group. Conclusions C allele in rs59805398 and A allele in rs34489123 have correlation with coronary heart disrase (CHD), implying that they might be a higher risk factor of CHD among Chinese Han population. There is apparent linkage disequilibrium among SNPs of TFPI-2 gene in CHD patients.