Hefler Lukas, Jirecek Stefan, Heim Kurt, Grimm Christoph, Antensteiner Gisella, Zeillinger Robert, Husslein Peter, Tempfer Clemens
Department of Obstetrics and Gynecology, Vienna University Medical School, Vienna, Austria.
J Soc Gynecol Investig. 2004 Jan;11(1):42-4. doi: 10.1016/j.jsgi.2003.07.008.
We determined whether gene polymorphisms associated with thrombophilia and vascular disease as etiologic factors were involved in the pathogenesis of pregnancy-associated complications.
We conducted a multicenter case-control study in which we studied 94 women with late unexplained intrauterine fetal death (IUFD) and 94 healthy women with at least one uncomplicated full-term pregnancy and no history of IUFD. We obtained blood samples from all subjects and analyzed their DNA for 12 common polymorphisms of thrombophilic and vascular genes (factor V Leiden, factor V H1299R, prothrombin G20210A, factor XIII V34L, MTHFR C677T, MTHFR A1298C, beta-fibrinogen-455 G to A, PAI-1 4G/5G, GPIIIa L33P, HFE C282Y, apolipoprotein B R3500Q, and apolipoprotein E2/E3/E4).
We found no significant association between any of the polymorphisms investigated and IUFD. Subgroup analyses involving various combinations of polymorphisms and in which gestational age and fetal weight were corrected for also showed no significant results.
Our data represent the largest study to date with respect to thrombophilic and vascular gene polymorphisms in IUFD. In accordance with others, we challenge the importance of thrombophilic and vascular gene polymorphisms in the pathogenesis of this condition.
我们确定与血栓形成倾向和血管疾病相关的基因多态性作为病因是否参与妊娠相关并发症的发病机制。
我们进行了一项多中心病例对照研究，研究了94例晚期不明原因宫内胎儿死亡（IUFD）的女性和94例至少有一次足月妊娠且无并发症且无IUFD病史的健康女性。我们从所有受试者中采集血样，并分析其DNA中的12种血栓形成倾向和血管基因的常见多态性（凝血因子V莱顿突变、凝血因子V H1299R、凝血酶原G20210A、凝血因子XIII V34L、亚甲基四氢叶酸还原酶C677T、亚甲基四氢叶酸还原酶A1298C、β-纤维蛋白原-455 G至A、纤溶酶原激活物抑制剂-1 4G/5G、糖蛋白IIIa L33P、遗传性血色素沉着症基因C282Y、载脂蛋白B R3500Q和载脂蛋白E2/E3/E4）。
我们发现所研究的任何多态性与IUFD之间均无显著关联。涉及多态性各种组合且校正了孕周和胎儿体重的亚组分析也未显示出显著结果。
就IUFD中的血栓形成倾向和血管基因多态性而言，我们的数据是迄今为止规模最大的研究。与其他研究一致，我们对血栓形成倾向和血管基因多态性在这种情况发病机制中的重要性提出质疑。
