【摘要】 目的:观察凝血因子Ⅻ(FⅫ)C46T基因多态性在中国汉族人群中的分布及其与冠心病和急性冠脉综合征的关系。方法:应用突变分离聚合酶链反应技术方法检测378例冠状动脉造影患者的凝血因子ⅫC46T基因多态性。结果:FⅫC46T基因多态性的等位基因C、T频率在冠心病组(168人)和对照组(210人)分别为29.8%、70.2%和31.4%、68.6%,基因频率分布符合Hardy-Weinberg平衡定律(2=0.244,P>0.05)。CC基因型、CT基因型、TT基因型在冠心病组和对照组的频率分别为9.5%、40.5%、50.0%和5.2%、52.6%、42.2%,其分布差异显著(2=6.393,P<0.05)。与CC基因型比较,CT基因型降低冠心病危险度57%(OR=0.43,95%CI0.19-0.97)。TT基因型在冠心病组ACS亚组和非ACS亚组的频率分别为46.3%和64.3%,其分布差异显著(2=4.200,P<0.05)。C46T基因型频率在冠脉狭窄支数之间比较无显著差异(P>0.05)。结论:汉族人群中FⅫC46T基因多态性与冠心病存在相关性,其C→T突变可能有预防冠心病和急性冠脉事件发生的保护作用。更多还原

【Abstract】 AIM:To study the distribution of C46T polymorphism of factor Ⅻ(FⅫ) in Chinese Han population and the association of the polymorphism with coronary artery disease(CAD) and acute coronary syndrome(ACS). METHODS:Selected coronary angiography was performed in 168 CAD patients and 210 controls. Genetype of FⅫ was typed by mutagenically separated polymerase chain reaction assay(MSPCR). RESULTS:FⅫ allelic frequencies of C and T were 29.8%,70.2% and 31.4%,68.6% in CAD and controls,respectively(P>0.05). Genetype distribution was in accordance with Hardy-Weinberg equilibrium. The frequency of CC,CT,TT in CAD and control was 8.7%,40.5%,50.0% and 5.2%,52.6%,42.2%. The association between FⅫ genetype and CAD(2=6.393,P<0.05) was observed. As compared with the CC group,the CT genetype was a protective factor for CAD(OR 0.43,95% CI 0.19-0.97). When compared to stable coronary artery disease,the frequency of TT genetype is significant less in ACS group(45.0% vs 62.5%,2=4.200,P<0.05). The distribution of genetype in C46T was no significant difference among the numbers of stenosed coronary artery. CONCLUSION:The C46T polymorphism of FⅫ is association with CAD in Chinese Han population. The C→T mutation may be a protective factor against CAD and ACS.更多还原