复发性流产患者中的TAFI基因编码区+1040C/T的多态性

Polymorphism of Thrombin-Activatable Fibrinolysis Inhibitor Gene+1040C/T in Women with Recurrent Spontaneous Abortion

目的:探讨复发性流产(RSA)患者中凝血酶激活纤溶抑制物(TAFI)的基因编码区+1040C/T的多态性(rs1926447)。方法:对137例RSA患者(RSA组)和103例同期常规体检、无自然流产史的育龄妇女(对照组)抽取外周血并提取DNA后应用SNaPshot法SNP分型检测两组TAFI-rs1926447的多态性,比较两组基因型和等位基因频率,并分析与血浆纤维蛋白原(Fib)、D-二聚体(D-dimer)的相关性。结果:RSA组rs1926447-C/C和C/T的Fib与D-dimer水平均显著高于对照组(P<0.05)。结论:人群中存在TAFI基因的遗传易感性,RSA患者组中C/T与T/T基因型的频率增加,暗示等位基因T可能是发生RSA的潜在危险因素。

Objective:To investigate the polymorphism(rs1926447)of thrombin activated fibrinolysis inhibitor(TAFI)+1040C/T in patients with recurrent spontaneous abortion(RSA).Methods:A total of 137 RSA patients(RSA group)and 103 women(control group)of childbearing age without history of spontaneous abortion in the same period were enrolled in this study.DNA was extracted from peripheral blood of two groups of patients.The polymorphism of TAFI-rs1926447 was detected by snapshot SNP typing.The genotype and allele frequency of the two groups were compared,and the correlation between plasma fibrinogen(FIB)and D-Dimer(D-dimer)was analyzed.Results:The Fib and D-dimer levels of rs1926447-C/C and C/T in RSA group were significantly higher than those in control group(P<0.05).Conclusion:There is a genetic susceptibility of TAFI gene in the population.The frequency of C/T and T/T genotypes in RSA patients increases,suggesting that allele T may be a potential risk factor for RSA.