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Effects of coagulation factor XIII (Val34Leu) polymorphism on recurrent pregnancy loss in Iranian Azeri women

Abstract Background: Recurrent pregnancy loss (RPL) is a heterogeneous condition consisting of two or more consecutive abortions occurring before 20 weeks of gestation. One of the clotting factor genes encodes factor XIII (FXIII), which is involved in fibrin formation. The most common polymorphism in the FXIII genes is the conversion of G to T in exon 2 (val34leu) of the FXIIIA gene, which leads to the substitution of valine with leucine. The objective of this study was to investigate the association between RPL and FXIII val34leu polymorphisms in a sample population of Iranian Azeri women. Methods: A prospective case-control study was performed on a cohort of 310 RPL patients and 290 healthy controls. DNA was extracted from the whole blood and fragments of the Val34Leu polymorphism were amplified by polymerase chain reaction (PCR), followed by DNA sequencing. Genotyping was performed using the Sequenom MassArray system. Results: The genotype frequencies of FXIII in the case group were 60.64% GG, 34.83% GT, and 4.41% TT, whereas the frequencies in the control group were 58.96% GG, 36.5% GT, and 4.48% TT. T allele frequencies in the case and control groups were 78.06% and 21.93%, respectively, and G allele frequencies were 77.24% and 22.75%, respectively. Conclusions: No significant association was observed between the Val34Leu polymorphism and RPL among Iranian Azeri women.