Determining the association of thrombophilic gene polymorphisms with recurrent pregnancy loss in Iranian women

Abstract

Objective

Thrombophilia is known to be associated with poor pregnancy outcomes. In this study, three thrombophilic gene polymorphisms, including EPCR (Ser219Gly), F11 (rs4253417) and F7 (323 Ins10) were investigated in an Iranian population of women in order to determine the correlation between thrombophilia and recurrent pregnancy loss (RPL).

Methods

Polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP) were used to evaluate the frequency of three candidate thrombophilic risk factors for recurrent pregnancy loss. The frequencies of the polymorphisms were compared between the case (144 patients with a history of at least two miscarriages) and the control (150 healthy women with no abortion) group.

Results

Our results show that EPCR and FVII polymorphisms of the patient and control group have the same genotype frequency, and the difference is not statistically significant (p-value > .05). Regarding FXI polymorphism, TT genotype frequency was higher in the patient group than the control group (p-value < .05); however, CT heterozygote form was higher in the control group compared to the patient group (p-value < .05).

Conclusion

In FXI polymorphism, T allele is possibly an RPL risk factor and C allele has a protective role. Thus, wild type FXI could be related to RPL, but EPCR and FVII polymorphism have no such correlation.

摘要

目的：众所周知, 血栓形成与不良妊娠结局有关。本研究以伊朗女性为研究对象, 对EPCR（Ser219Gly）、FXI（rs4253417）和FVII（323 Ins10）三个易栓基因多态性进行了研究, 以确定血栓形成与反复妊娠丢失（RPL）的相关性。

方法：采用聚合酶链式反应-限制性片段长度多态性（PCR-RFLP）分析方法, 对反复妊娠丢失的3个候选易栓危险因素的频率进行评估。比较病例组（144例, 有至少两次流产史）和对照组（150例健康未流产女性）的基因多态性频率。

结果：我们的结果表明, 患者组和对照组的EPCR和FVII基因多态性具有相同的基因型频率, 差异无统计学意义（p值>0.05）。在FXI基因多态性方面, 患者组TT基因型频率高于对照组（p值<0.05）, 而对照组CT杂合子频率高于患者组（p值<0.05）。

结论：在FXI基因多态性中, T等位基因可能是RPL的危险因素, C等位基因具有保护作用。因此, 野生型FXI可能与RPL相关, 但EPCR和FVII多态性与RPL无关。

Keywords:

• RPL
• pregnancy loss
• single nucleotide polymorphism
• thrombophilia
• factor XI

Acknowledgments

The authors would like to thank the technical staff of Rouyesh Institute and Tehran University of Medical Sciences for their invaluable support.

Disclosure statement

The authors declared no potential conflict of interest with respect to the research, authorship, and/or publication of this article.

Additional information

Funding

The authors disclosed receipt of the following financial support for the research, authorship, and/or publication of this article: This work was funded by Tehran University of Medical Sciences [grant no: 95-01-103-31451].