静脉血栓患者FⅫC46T基因多态性分析

Analysis of C46T gene polymorphism of FⅫ in patients with venous thrombosis patients

目的：探讨凝血因子Ⅻ（FⅫ）基因第一外显子C46T基因多态性与静脉血栓形成的关联性。方法：应用PCR-RFLP分析方法检测87例静脉血栓患者和129例健康对照的FⅫ基因外显子C46T基因型及其频数分布，采用多元Logistic非条件回归方法分析FⅫ基因第一外显子C46T基因多态性与静脉血栓形成的关联性。结果：在研究人群中存在有FⅫ46C/C、C/T、T/T 3种基因型，静脉血栓患者中的FⅫ46C/C基因型频数分布（6.90%）高于健康对照人群（4.65%）。经多元Logistic非条件回归分析，FⅫ46C/C基因型与深静脉血栓无关联性（2χ=1.036，P=0.309，OR=1.86，95%CI：0.57-6.12）。结论：不能确定FⅫ基因第一外显子C46T基因多态性是静脉血栓形成的危险因素，静脉血栓形成与FⅫ基因第一外显子C46T基因多态性的关联性有待于深入研究。

Objective To explore the association between the C46T gene polymorphism in the exon-1 region of the coagulation factorⅫ （F Ⅻ） and venous thrombosis. Methods PCR-RFLP method was used to investigate the distribution frequency of the C46T gene polymorphism in the 87 venous thrombosis patients and 129 healthy controls. The relation of the C46T gene polymorphism with venous thrombosis was analyzed by Logistic unconditional regression. Results There were three kinds of genotypes including 46C/C, 46C/T, 46T/T in the study population. The distribution frequency of 46C/C genotype in the venous thrombosis patients （6.9%） was higher than that in the healthy controls （4.65%）. There was no relativity between 46C/C genotype and venous thrombosis. （X^2=1. 036, P=0. 309, OR=I. 86, 95%CI： 0. 57-6.12）. Conclusion It is not deemed that the C46T gene polymorphism of FⅫ is an independent risk factor in the venous thrombosis and the relativity between the deep venous thrombosis and C46T gene polymorphism is going on research.