血栓前状态基因多态性与复发性流产的相关性

Association of prethrombotic state gene polymorphisms with recurrent spontaneous abortion

目的复发性流产(recurrent spontaneous abortion,RSA)被认为与血栓形成有关,血栓形成相关的基因主要包括F2、F5、F13A1、MTHFR等。探讨RSA妇女F2、F5、F13A1、MTHFR、CENPH和CCDC68基因多态性与RSA的关系。方法通过数据库查阅文献筛选出和RSA可能相关的F2、F5、F13A1、MTHFR、CENPH和CCDC68总计6个基因位点,采用SNP飞行质谱仪(MassARRAY检测系统)方法,检测60例RSA患者(研究组)和60例健康对照者(对照组)6个位点的多态性及其频率。结果在F2、F5、F13A1、MTHFR、CENPH和CCDC68共6个基因位点中,1个基因位点:MTHFR基因C677T(rs1801133)位点被发现在研究组和对照组之间有明显差异,其余5个基因位点无统计学意义。结论MTHFR基因C677T(rs1801133)位点多态性在研究组和对照组之间有明显差异,其基因位点多态性可能与RSA有关联。其余5个基因位点在研究组和对照组之间无显著性差异,其基因多态性可能与RSA无相关性。

Objective Recurrent spontaneous abortion(RSA)is thought to be associated with thrombosis,and the main thrombosis-related genes include F2,F5,F13A1,MTHFR,etc.To investigate the association of F2,F5,F13A1,MTHFR,CENPH and CCDC68 gene polymorphisms with RSA in women with recurrent spontaneous abortion.Methods A total of six loci,F2,F5,F13A1,MTHFR,CENPH and CCDC68,that may be associated with RSA were screened by database review of the literature,and the polymorphisms and their frequencies of the six loci were detected in 60 women with RSA(research group)and 60 healthy women(control group)using the SNP flight mass spectrometry(MassARRAY detection system)method.Results Among a total of six loci,F2,F5,F13A1,MTHFR,CENPH and CCDC68,one locus:the C677T(rs1801133)locus of the MTHFR gene was found to be significantly different between the RSA and control groups,and the remaining five loci were not statistically significant.Conclusion The MTHFR gene C677T(rs1801133)locus polymorphism was found to be significantly different between the case and control groups,and its locus polymorphism may be associated with RSA.The remaining five loci were not significantly different between the case and control groups,and their gene polymorphisms may not be associated with RSA.