复发性自然流产患者纤溶酶原激活物抑制剂-1、血管紧张素转换酶及凝血因子 XIII 基因的多态性
Polymorphisms of plasminogen activator inhibitor-1, angiotensin converting enzyme and coagulation factor XIII genes in patients with recurrent spontaneous abortion.
作者信息
Aarabi Mahmoud, Memariani Toktam, Arefi Soheila, Aarabi Mohsen, Hantoosh Zadeh Sedigheh, Akhondi Mehdi A, Modarressi Mohammad H
机构信息
Department of Reproductive Genetics, Reproductive Biotechnology Research Center, Avicenna Research Institute, Tehran, Iran.
出版信息
J Matern Fetal Neonatal Med. 2011 Mar;24(3):545-8. doi: 10.3109/14767058.2010.511331. Epub 2010 Sep 7.
We investigated polymorphisms of plasminogen activator inhibitor-1 (PAI-1), angiotensin converting enzyme (ACE ) and coagulation factor XIII (FXIII) genes and their association with recurrent spontaneous abortion (RSA) in Iranian patients and normal healthy controls. Ten (18.5%) patients were homozygote (4G/4G) for PAI-1 polymorphism, in contrast with two (2%) controls (p = 0.001). Patients with homozygote 4G mutation were significantly more prone to RSA in contrast to others (odds ratio: 11.0, 95% CI: 2.3-52.4). Nineteen (30.2%) patients and 25 (26.6%) controls were homozygote (DD) for ACE polymorphism. We observed only two patients and one control with homozygosity (34leu) for FXIII polymorphism. 4G/4G polymorphism for PAI-1 gene could be a thrombophilic mutation leading to abortion in Iranian population.
我们研究了伊朗患者和正常健康对照者中纤溶酶原激活物抑制剂-1（PAI-1）、血管紧张素转换酶（ACE）和凝血因子 XIII（FXIII）基因的多态性及其与复发性自然流产（RSA）的关联。10 名（18.5%）患者为 PAI-1 多态性纯合子（4G/4G），而对照者中有 2 名（2%）（p = 0.001）。与其他患者相比，携带 4G 突变纯合子的患者发生 RSA 的倾向显著更高（优势比：11.0，95%置信区间：2.3 - 52.4）。19 名（30.2%）患者和 25 名（26.6%）对照者为 ACE 多态性纯合子（DD）。我们仅观察到 2 名患者和 1 名对照者为 FXIII 多态性纯合子（34leu）。PAI-1 基因的 4G/4G 多态性可能是导致伊朗人群流产的一种易栓突变。
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