Pietropolli A, Giuliani E, Bruno V, Patrizi L, Piccione E, Ticconi C
Section of Gynecology and Obstetrics, Academic Department of Biomedicine and Prevention, University Tor Vergata , Rome , Italy.
J Obstet Gynaecol. 2014 Apr;34(3):229-34. doi: 10.3109/01443615.2013.836476. Epub 2014 Jan 31.
The present study investigated the association between genetic polymorphisms of selected thrombophilic factors with recurrent miscarriage (RM). The genetic polymorphisms for plasminogen activator inhibitor-1 4G/5G (PAI-1), Factor V Leiden (FVL), Factor II G20210A (FII) and methylenetetrahydrofolate reductase MTHFR C677T were determined in 186 RM women and 129 healthy women. In RM women, the frequency of heterozygosity for PAI-1 5G/4G (31%) was significantly higher than in controls (5G/4G: 22%) whereas no difference was found in the case of homozygosity 4G/4G and 5G/5G. The frequencies of genotype G/A for FVL and FII were significantly higher in RM women (FVL, 10%; FII, 8%) than in controls (FVL, 3%; FII, 2%). No difference was found in the case of MTHFR C677T. The polymorphisms of FVL and FII should be screened in RM women, whereas PAI-1 seems to be weakly associated with RM. The role of MTHFR C677T polymorphisms without hyperhomocysteinemia appears negligible.
本研究调查了所选血栓形成倾向因素的基因多态性与复发性流产（RM）之间的关联。在186例复发性流产女性和129例健康女性中测定了纤溶酶原激活物抑制剂-1 4G/5G（PAI-1）、凝血因子V莱顿突变（FVL）、凝血因子II G20210A（FII）和亚甲基四氢叶酸还原酶MTHFR C677T的基因多态性。在复发性流产女性中，PAI-1 5G/4G杂合子频率（31%）显著高于对照组（5G/4G：22%），而纯合子4G/4G和5G/5G情况无差异。复发性流产女性中FVL和FII的基因型G/A频率（FVL，10%；FII，8%）显著高于对照组（FVL，3%；FII，2%）。MTHFR C677T情况无差异。对于复发性流产女性应筛查FVL和FII的多态性，而PAI-1似乎与复发性流产弱相关。无高同型半胱氨酸血症时MTHFR C677T多态性的作用似乎可忽略不计。
