CAJ | 학술논문

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Ⅻ C46T基因多态性.结果:FⅫ C46T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(χ~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(χ~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%CI 0.19-0.97).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(χ~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FⅫ C46T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.
목적:관찰응혈인자Ⅻ(FⅫ)C46T기인다태성재중국한족인군중적분포급기여관심병화급성관맥종합정적관계.방법:응용돌변분리취합매련반응기술방법검측378례관상동맥조영환자적응혈인자Ⅻ C46T기인다태성.결과:FⅫ C46T기인다태성적등위기인C、T빈솔재관심병조(168인)화대조조(210인)분별위29.8%、70.2%화31.4%、68.6%,기인빈솔분포부합Hardy-Weinberg 평형정률(χ~2=0.244,P>0.05).CC기인형、CT기인형、TT기인형재관심병조화대조조적빈솔분별위9.5%、40.5%、50.0%화5.2%、52.6%、42.2%,기분포차이현저(χ~2=6.393,P<0.05).여CC기인형비교,CT기인형강저관심병위험도57%(OR=0.43,95%CI 0.19-0.97).TT기인형재관심병조ACS아조화비ACS아조적빈솔분별위46.3%화64.3%,기분포차이현저(χ~2=4.200,P<0.05).C46T기인형빈솔재관맥협착지수지간비교무현저차이(P>0.05).결론:한족인군중FⅫ C46T기인다태성여관심병존재상관성,기C→T돌변가능유예방관심병화급성관맥사건발생적보호작용.
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(χ~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%, χ~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.