Aarabi Mahmoud, Memariani Toktam, Arefi Soheila, Aarabi Mohsen, Hantoosh Zadeh Sedigheh, Akhondi Mehdi A, Modarressi Mohammad H
Department of Reproductive Genetics, Reproductive Biotechnology Research Center, Avicenna Research Institute, Tehran, Iran.
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。
