Abstract
Thrombophilia gene variants have been shown to be associated with higher risk of recurrent pregnancy loss (RPL). Due to the role of human platelets antigen 1 (HPA-1) and fibrinogen β chain (FGB) as critical players in the coagulation process, their most important variants including rs5918 T > C and rs1800790 G > A were selected to be studied in women affected by RPL. Three milliliters of peripheral blood were drawn from 110 women with history of at least two consecutive spontaneous abortion and 110 healthy women controls. rs5918 T > C and rs1800790 G > A of HPA-1 and FGB genes, respectively, were selected to be analyzed through polymerase chain reaction-restriction fragment length polymorphism (PCR_RFLP) following DNA isolation using QIAamp DNA Blood Mini Kit. Heterozygote genotype (TC) of HPA-1 gene rs5918 polymorphism was significantly associated with risk of RPL (p-value = 0.02). Although, rs1800790 G > A of FGB gene was not associated with RPL, its combination with rs5918 polymorphism was associated with increased risk of RPL. Owing to the critical roles of FGB and HPA-1 genes in coagulation, and thrombosis and several confinements on the meaningful association between the combination of those polymorphism with risk of RPL, including them in the thrombophilia panel may increase detection rate of hereditary thrombophilia patients. However, further studies with larger sample sizes are required to shed light on the exact role of the studied gene polymorphism, especially rs1800790 G > A of FGB gene variant in pathogenesis of RPL.
Highlights
Recurrent abortion, which is known as recurrent pregnancy loss (RPL), is defined as the occurrence of two or more consecutive spontaneous abortions before the 22nd week of gestation.RPL has a general frequency of about 5% among all pregnancies
The most important genetic variations have been identified in methylenetetrahydrofolate reductase (MTHFR), factor V Leiden (FVL), factor II prothrombine and less importantly factor VIII genes, which are included in the thrombophilia panel of RPL in most genetic laboratories around the world
To make clearer the role thrombophilia genetic alterations on the mechanism of recurrent abortion, we included the patients with history of 2 ≥ primary abortions and the case and control groups were matched for age and ethnicity
Summary
Recurrent abortion, which is known as recurrent pregnancy loss (RPL), is defined as the occurrence of two or more consecutive spontaneous abortions before the 22nd week of gestation.RPL has a general frequency of about 5% among all pregnancies (and, 1% of all couples). Genetic alterations in all the genes involved in the blood coagulation process can impair corresponding encoded proteins and eventually lead to undesired thrombosis within the placental vessels, detachment of placenta and abortion [3]. In this regard, the most important genetic variations have been identified in methylenetetrahydrofolate reductase (MTHFR), factor V Leiden (FVL), factor II prothrombine and less importantly factor VIII genes, which are included in the thrombophilia panel of RPL in most genetic laboratories around the world.
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