宁夏回、汉族心肌梗死患者血浆凝血因子Ⅶ基因多态性研究

The coagulation factor Ⅶ gene polymorphisms in patients with myocardial infarction in Ningxia Hui and Han populations

目的探讨血浆凝血因子Ⅶ（coagulationfactorⅦ，FⅧ）水平及其基因多态性在宁夏回、汉族冠心病以及心肌梗死患者中的分布特点。方法采用候选基因及病例一对照研究的方法，以聚合酶链反应及限制性片段长度多态性技术，对420例回族冠心病患者及508名回族健康者，以及600例汉族冠心病患者和604名汉族健康者行FⅦ基因的R353Q、-3230／10bp和HVR4多态性分析，同时采用重组可溶性组织因子法测定血浆FⅦa水平。结果（1）回、汉族冠心病组的血浆FⅦa水平均显著高于对照组（P〈0．01）；回、汉族心肌梗死组的血浆FⅦa水平均显著高于心绞痛组（P〈0．05）。（2）R353Q基因型及等位基因频率分布在回族心肌梗死组与心绞痛组间存在统计学意义（P〈O．01），-3230／10bp基因型及等位基因频率分布在回、汉族心肌梗死组与心绞痛组间存在统计学意义（P〈0．01）。（3）回族人群RR基因型血浆FⅦa水平高于Q等位基因携带者（P〈0．05）。结论回、汉族人群中存在凝血因子Ⅶ基因的R353Q、-3230／10bp和HVR4多态性；Q等位基因是回族人群心肌梗死的遗传保护因子，FⅦa水平受其基因的R353Q多态性影响；10等位基因可能是回、汉族人群心肌梗死的遗传保护因子。

Objective To investigate the characteristics for activated coagulation factor Ⅶ （FⅦa） and the R353Q, -323 0/10 bp, HVR4 polymorphisms in the gene in patients with coronary heart disease （CHD） and myocardial infarction from Ningxia Hui and Han populations. Methods Four hundred and twenty angiographically proven CHD patients in the Hui population, and 508 healthy blood donors were tested for their plasma levels of coagulation factor Ⅶ using recombinant tissue factor method. The coagulation factor Ⅶ gene R353Q, --323 0/10 bp and HVR4 genotypes were identified by polymerase chain reaction. In addition, 600 Han patients with CHD and 604 healthy Han control subjects were also investigated. Results （1） The plasma F Ⅶ a levels was significantly higher in patients with CHD and myocardial infarction than that in healthy control subjects and angor pectoris （P〈0.01） in both Hui and Han populations. （2） There were significant differences in the distribution of genotypes and allelic frequencies of the R353Q between myocardial infarction and angor pectoris disease in the Hui population （P〈0.05）. So was the --323 0/10 bp locus in both the Hui and Han population. （3） The FⅦa level was significantly higher in individuals with RR genotype than those of Q allele carriers in the Hui population. Conclusion There are polymorphisms of the FⅦ gene R353Q, -- 323 0/10 bp and HVR4 in the Hui and Han populations. The Q allele might be a protective factor against myocardial infarction in the Hui, and the plasma FⅦa level may be influenced by the R353Q polymorphism of the FⅦ gene. The 10 allele may be a protective factor against myocardial infarction in both the Hui and Han populations.