Monoclonal Antibody Research Center, Avicenna Research Institute, ACECR, Shahid Beheshti University, Evin, Tehran, Iran.
Am J Reprod Immunol. 2011 Aug;66(2):149-56. doi: 10.1111/j.1600-0897.2010.00974.x. Epub 2011 Jan 18.
To identify the associations of the plasminogen activator inhibitor-1 (PAI-1) -675 4G/5G, beta fibrinogen (BF) -455G/A, integrin beta 3 (ITGB3) 1565T/C, and methylenetetrahydrofolate reductase (MTHFR) 677C/T and 1298A/C polymorphisms with recurrent pregnancy loss (RPL).
Polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP) were performed to assess the frequency of five candidate genetic risk factors for RPL, and the frequencies of the polymorphisms were calculated and compared between case and control groups.
The BF -455G/A, MTHFR 677C/T, and 1298A/C polymorphisms were found to be positively, and ITGB3 1565T/C polymorphism negatively, associated with RPL. Homozygosity but not heterozygosity for PAI-1 -675 4G/5G polymorphism was significantly higher in patients with RPL than in the control group. The presence of both mutations of MTHFR genes highly increased the risk of RPL.
The data highlight the importance of thrombophilia screening in patients with RPL.
鉴定纤溶酶原激活物抑制剂-1（PAI-1）-675 4G/5G、β纤维蛋白原（BF）-455G/A、整合素β3（ITGB3）1565T/C 和亚甲基四氢叶酸还原酶（MTHFR）677C/T 和 1298A/C 多态性与复发性妊娠丢失（RPL）之间的关联。
聚合酶链反应和限制性片段长度多态性（PCR-RFLP）用于评估 RPL 的五个候选遗传风险因素的频率，计算并比较病例组和对照组之间的多态性频率。
发现 BF-455G/A、MTHFR 677C/T 和 1298A/C 多态性与 RPL 呈正相关，而 ITGB3 1565T/C 多态性与 RPL 呈负相关。与对照组相比，RPL 患者 PAI-1-675 4G/5G 多态性的纯合子而非杂合子的发生率明显更高。MTHFR 基因的两种突变的存在极大地增加了 RPL 的风险。
数据强调了在 RPL 患者中进行血栓形成倾向筛查的重要性。
