The relationship between FXIII Val34Leu and PAI-1 4G/5G gene polymorphisms and recurrent miscarriage in women from Golestan province

The main purpose of this study was to work out the relationship between different polymorphisms of PAI (Plasminogen Activator Inhibitor type 1) 4G/5G and XIII Val34Leu genes in women with first-semester recurrent miscarriage (RM) syndrome. Recurrent miscarriage (RM) is an obstetric challenge. Polymorphisms of factor XIII (FXIII)and plasminogen activator inhibitor-1 (PAI-1) may cause an imbalance between coagulation and fibrinolysis that can end in RM.  This case-control study enclosed 48 women with at least two or three abortions and 50 women with at least one pregnancy as a control.  DNA molecule was extracted from peripheral blood samples by the phenol-chloroform methodology. Different variants of the two genes were amplified by Amplification Refractory Mutation System - Polymerase chain reaction (ARMS-PCR) method. Finally, we analyzed allele frequencies and genotypes, Odd Ratios, Chi-square, Fisher's and Students T-test for the data. During this study, it has been found that 50% of the case population have the normal genotype for the PAI-1 (rs1799762) gene, 31.25% had a heterozygous genotype and 18.75% had a mutant homozygote. The frequency of the mutated allele in the patient population compared to the controls have p-values <0.001 and it is statistically significant for this allele (OR = 0.068, p-values <0.001, CI = 0.014-0.322). In contrast, no significant results were observed for the factor XIII (rs5985) gene and this variant was considered in this population as an ineffective polymorphism on recurrent miscarriage syndrome (p-values = 0.238). Finally, it is suggested that other variants of the given gene should be examined in Golestan.