Association between Thrombophilic Gene Polymor-phisms and Recurrent Pregnancy Loss in Iranian Women


1 Department of Genetics, Faculty of Basic Sciences, Islamic Azad University, Zanjan Branch, Zanjan, Iran

2 Department of Genetics, School of Medicine, Zanjan Branch, Islamic Azad University, Etemadeyeh, Zanjan, Iran


Background: Recurrent pregnancy loss (RPL) is a common problem among couples, and acquired thrombophilia is the well-known etiology of RPL. The aim of this study was to establish the association between inherited thrombophilic gene polymorphisms and RPL.
Methods: This case-control study was conducted on 50 women with unexplained RPL and 50 parous women with no history of miscarriage (age range: 17–48 years). The data were collected during 2013–2015 in Sarem Hospital, Tehran, Iran. Genotyping was performed using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) for glycoprotein IIIa (PLA1/PLA2), KDR (Q472H), and β-fibrinogen (-455G/A); tetra-primer amplification refractory mutation system (ARMS)-PCR for glycoprotein Ia (807c/t) and vascular endothelial growth factor (VEGF) (2578c/a), and ins/del PCR for angiotensin I-converting enzyme (ACE) (intron 16 I/D). The association between the frequency of the genotypes and RPL was determined by Chi-square and Fisher’s exact tests.
Results: The results of the present study revealed a significant relationship between glycoprotein Ia (807C/T), VEGF (2578C/A), and ACE (intron 16 I/D) polymorphisms and RPL (P=0.00, 0.02, and 0.00, respectively). In contrast, no relationship was observed between β-fibrinogen (-455G/A), KDR (Q472H), and glycoprotein IIIa (PLA1/PLA2) polymorphisms and increased risk of RPL (P>0.05).
Conclusion: This study demonstrated that glycoprotein Ia (807C/T), VEGF (2578C/A), and ACE (intron 16 I/D) polymorphisms may be a risk factor for the women with a history of RPL.


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