J Thromb Haemost. 2014 May;12(5):666-9. doi: 10.1111/jth.12526.
In up to 50% of couples affected by recurrent pregnancy loss, no identifiable cause is established. Fetal and maternal factors may be equally important in the establishment and maintenance of the placental/maternal arteriovenous anastomoses. Therefore,the inheritance of thrombophilia-related genes may be an important factor in the pathophysiology of recurrent pregnancy loss. Most of the research on recurrent pregnancy loss and thrombophilia has focused on maternal factors, but little is known about the paternal contribution.
On that basis, we studied the association between inherited paternal thrombophilias and recurrent pregnancy loss in a narrowly selective group of 42 Argentine males from couples that presented without any known risk factors for recurrent pregnancy loss.
The genotypic distributions of factor (F) V Leiden and prothrombin G20210A among cases were compared with those from a reference group composed of 200 Argentine men.
We found a significant difference in the distribution of FV Leiden between both groups (16.7% vs. 3.0%), but no difference was found in the distribution of prothrombin G20210A (2.4% vs.2.0%). Those couples with paternal FV Leiden carriage would be six times more likely to experience recurrent pregnancy loss despite no other apparent cause (OR = 6.47; 95% CI, 2.06–20.39).
We found evidence of an association between the paternal carriage of FV Leiden and the predisposition to recurrent pregnancy loss, thereby supporting the hypothesis that genetic contributions from both parents are essential factors in the development of this obstetric disorder.
在多达 50%的复发性妊娠丢失夫妇中,无法确定病因。胎儿和母体因素在胎盘/母体动静脉吻合的建立和维持中可能同样重要。因此,血栓形成相关基因的遗传可能是复发性妊娠丢失病理生理学的重要因素。大多数关于复发性妊娠丢失和血栓形成倾向的研究都集中在母体因素上,但对父体的贡献知之甚少。
在此基础上,我们研究了在一组来自无复发性妊娠丢失已知危险因素的夫妇的 42 名阿根廷男性中,遗传的父系血栓形成倾向与复发性妊娠丢失之间的关系。
比较病例组和对照组(由 200 名阿根廷男性组成)中因子(F)V Leiden 和凝血酶原 G20210A 的基因型分布。
我们发现两组之间 FV Leiden 的分布存在显著差异(16.7%比 3.0%),但凝血酶原 G20210A 的分布无差异(2.4%比 2.0%)。尽管没有其他明显的原因,但携带父系 FV Leiden 的夫妇发生复发性妊娠丢失的可能性要高出六倍(OR=6.47;95%CI,2.06-20.39)。
我们发现 FV Leiden 父系携带与复发性妊娠丢失易感性之间存在关联,从而支持遗传因素来自父母双方对这种产科疾病的发展都是重要因素的假设。