Torabi Raheleh, Zarei Saeed, Zeraati Hojjat, Zarnani Amir Hassan, Akhondi Mohammad Mehdi, Hadavi Reza, Shiraz Elham Savadi, Jeddi-Tehrani Mahmood
Department of Medical Genetics, National Institute for Genetic Engineering and Biotechnology (NIGEB), Tehran, Iran.
J Reprod Infertil. 2012 Apr;13(2):89-94.
Recurrent pregnancy loss is (RPL) a heterogeneous condition. While the role of acquired thrombophilia has been accepted as an etiology for RPL, the contribution of specific inherited thrombophilic gene polymorphisms to the disorder has been remained controversial.
One hundred women with a history of two or more consecutive abortions and 100 women with at least two live births and no miscarriages were included in the study and evaluated for the presence of 11 thrombophilic gene polymorphisms (Factor V LEIDEN, Factor V 4070 A/G, Factor V 5279 A/G, Factor XIII 103 G/T, Factor XIII 614 A/T, Factor XIII 1694 C/T, PAI-1 -675 4G/5G, ITGB3 1565 T/C, β-Fibrinogen -455G/A, MTHFR 677 C/T, MTHFR 1298 A/C) using PCR-RFLP technique. The data were statistically analyzed using Mann-Whitney test and logistic regression model.
There was no relation between factor XIII 103G/T gene polymorphism with increased risk of RPL. However, the other 10 gene polymorphisms were found to be associated with increased/decreased risk of RPL. Multiple logistic regression model for analyzing the simultaneous effects of these polymorphisms on the risk of RPL showed that six of these 11 polymorphisms (Factor V 1691G/A, Factor V 5279A/G, Factor XIII 614A/T, β-Fibrinogen -455G/A, ITGB3 1565T/C, and MTHFR 1298A/ C) were associated with RPL.
It is possible to calculate the risk of abortion in a patient with RPL by determining only six of the 10 polymorphisms that are individually associated with RPL.
复发性流产（RPL）是一种异质性疾病。虽然获得性血栓形成倾向的作用已被公认为RPL的病因，但特定遗传性血栓形成倾向基因多态性对该疾病的影响仍存在争议。
本研究纳入了100名有两次或更多次连续流产史的女性和100名至少有两次活产且无流产史的女性，并使用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）技术评估了11种血栓形成倾向基因多态性（凝血因子V Leiden、凝血因子V 4070 A/G、凝血因子V 5279 A/G、凝血因子XIII 103 G/T、凝血因子XIII 614 A/T、凝血因子XIII 1694 C/T、纤溶酶原激活物抑制剂-1（PAI-1）-675 4G/5G、整合素β3（ITGB3）1565 T/C、β-纤维蛋白原-455G/A、亚甲基四氢叶酸还原酶（MTHFR）677 C/T、MTHFR 1298 A/C）的存在情况。使用曼-惠特尼检验和逻辑回归模型对数据进行统计学分析。
凝血因子XIII 103G/T基因多态性与RPL风险增加无关。然而，发现其他10种基因多态性与RPL风险增加/降低有关。分析这些多态性对RPL风险的同时影响的多元逻辑回归模型显示，这11种多态性中的6种（凝血因子V 1691G/A、凝血因子V 5279A/G、凝血因子XIII 614A/T、β-纤维蛋白原-455G/A、ITGB3 1565T/C和MTHFR 1298A/C）与RPL有关。
仅通过确定与RPL个体相关的10种多态性中的6种，就有可能计算RPL患者的流产风险。
