凝血因子IIIA亚基Glu651Gln和Pro564Leu多态性与冠状动脉粥样硬化性心脏病的关系研究

Study on the Relationship Between the Glu651Gln and Pro564Leu Polymorphisms of FXIIIA Gene and Coronary Heart Disease

目的:探讨凝血因子XIIIA(Coagulation factor XIII,FXIIIA)亚基Glu651Gln和Pro564Leu多态性与血瘀型冠状动脉粥样硬化性心脏病的关系。方法:应用等位基因特异性PCR(allele-specific polymerase chain reaction,AS-PCR)和核苷酸序列测定技术分析154名正常人和144例血瘀型冠状动脉粥样硬化性心脏病患者FXIIIA亚基Glu651Gln和Pro564Leu多态性。结果:正常对照组FXIIIA亚基Glu651Gln多态性GG、GC、CC基因型的频率分别为0.754、0.192、0.054,FXIIIA亚基Pro564Leu多态性CC、CT、TT基因型频率分别为0.409、0.429、0.162,FXIIIA亚基Glu651、651Gln、Pro564和564Leu的等位基因频率分别为0.850、0.150、0.623和0.377。血瘀型冠状动脉粥样硬化性心脏病患者中FXIIIA亚基Glu651Gln多态性GG、GC、CC基因型的频率分别为0.728、0.219、0.053,Pro564Leu多态性CC、CT、TT基因型频率分别为0.421,0.386,0.193,FXIIIA亚基Glu651、651Gln、Pro564和564Leu的等位基因频率分别为0.838、0.162、0.614和0.386;正常对照组和病例组FXIIIA亚基Glu651Gln和Pro564Leu两个多态性位点的基因型分布和等位基因频率无显著性差异(P>0.05)。结论:FXIIIA亚基Glu651Gln和Pro564Leu多态性存在于正常人和血瘀型冠状动脉粥样硬化性心脏病患者中,但与血瘀型冠状动脉粥样硬化性心脏病没有关联性。

Objective：To investigate the Glu651Gln and Pro564Leu polymorphisms of FXⅢA gene and coronary heart disease. Methods： The Glu651Gln and Pro564Leu polymorphisms were detected by allele-specific polymerase chain reaction and nucleotide sequencing in the 154 normal controls and 114 coronary heart disease patients. Results：In normal controls, the frequencies of genotype GG, GC and CC of Glu651Gln polymorphism were 0. 754,0. 192,0. 054 respectively and the frequencies of genotypes CC, CT and TF of Pro564Leu poly- morphism were 0. 409,0. 429,0. 162 respectively. The allelic frequencies of the FXⅢA 651Glu, 651Gin, 564Pro and 564Leu were 0. 838,0. 162,0. 614 and 0. 386 respectively in the normal controls. In patients of coronary heart disease, the frequencies of genotype GG, GC and CC of Glu651Gln polymorphism were 0. 728,0. 219,0.053 respectively and the frequencies of genotypes CC, CT and TT of Pro564Leu polymorphism were 0. 421,0. 386,0. 193 respectively. The allelic frequencies of the FXⅢA 651Glu, 651 Gin, 564Pro and 56dLeu were 0. 838,0. 162,0. 614 and 0. 386 respectively in the Group of coronary heart disease. The frequencies of alleles and geno- type distribution of the FXⅢA Glu651Gln, Pro564Leu were not significant differences between control group and coronary heart disease group（P 〉 0.05 ）. Conclusion： There are Glu651Gtn and Pro564Leu polymorphisms of FXⅢA gene in normal controls and coronary heart disease patients. The two polymorphisms were not associated with coronary heart disease.