Factor V Leiden and prothrombin G20210A mutations, but not methylenetetrahydrofolate reductase C677T, are associated with recurrent miscarriages
Factor V Leiden and prothrombin G20210A mutations, but not methylenetetrahydrofolate reductase C677T, are associated with recurrent miscarriages
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DOI：
10.1093/humrep/15.2.458
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发表时间：
2000-02-01
影响因子：
6.1
通讯作者：
Kotsis, A
中科院分区：
文献类型：
--
作者：
Foka, ZJ;Lambropoulos, AF;Kotsis, A
本研究旨在探讨复发性流产与凝血因子V Leiden、凝血酶原G20210A和C677T亚甲基四氢叶酸还原酶突变的关系。在病例对照研究中，对80例复发性流产患者和100例对照组进行了FV Leiden、凝血酶原G20210A和C677T亚甲基四氢叶酸还原酶突变的检测，其中15例复发性流产患者和4例对照组携带FV Leiden突变(19对4%，P=0.003，优势比5.5，95%可信区间：1.7-17)，80例复发性流产患者中有7例携带凝血酶原基因G20210A突变，100例对照组中有2例携带凝血酶原G20210A突变(9vs2%，P=0.038，优势比4.6，95%CI：0.9~2 3.2)。80例反复流产妇女和15例对照组为C677TMTHFR突变纯合子(8vs15%，P=0.134，优势比0.4，95%可信区间0.1~1.2)。我们的结果表明，凝血因子V Leiden和凝血酶原G20210A多态的存在，而不是MTHFR C677T纯合子的存在，可能是复发性流产的额外危险因素；此外，提示凝血因子V Leiden和凝血酶原G20210A突变的发生率在中期妊娠、原发胎儿损失中更为突出，并且与是否存在易导致复发性胎儿损失的额外病理无关。
The aim of this study was to investigate the relationship between recurrent miscarriages and factor V Leiden, prothrombin G20210A and C677T methylenetetrahydrofolate reductase (MTHFR) mutations, In this case-control study the prevalence of factor V Leiden, prothrombin G20210A and C677T methylenetetrahydrofolate reductase mutations was determined in a consecutive series of 80 recurrent miscarriage patients and 100 controls, Fifteen of 80 recurrent miscarriage patients and four out of 100 controls carried the factor V Leiden mutation (19 versus 4%, P = 0.003, odds ratio 5.5, 95% confidence interval (CI): 1.7-17), Seven of 80 recurrent miscarriage patients and two of 100 controls were carriers of the prothrombin G20210A mutation (9 versus 2%, P = 0.038, odds ratio 4.6, 95% CI: 0.9-23.2). Sis of 80 recurrent miscarriage women and 15 of 100 controls were homozygotes for the C677T MTHFR mutation (8 versus 15%, P = 0.134, odds ratio: 0.4, 95% CI: 0.1-1.2). Our results suggest that the presence of factor V Leiden and prothrombin G20210A polymorphism, but not MTHFR C677T homozygosity; could be additional risk factors for recurrent miscarriages, Furthermore, it was suggested that the prevalence of factor V Leiden and prothrombin G20210A mutations is more prominent in second trimester, primary fetal losses and it is independent of the existence of additional pathology predisposing to recurrent fetal losses.