Congenital single nucleotide thrombophilia mutations, particularly MTHFR and FXIII Val34Leu, were significantly associated with early recurrent pregnancy loss in young Middle Eastern women.
Case-Control (n=200)
Are congenital single nucleotide thrombophilia mutations associated with early recurrent pregnancy loss in young women?
Congenital single nucleotide thrombophilia mutations, particularly MTHFR and FXIII variants, are significantly associated with early recurrent pregnancy loss in young Middle Eastern women.
Background/Objectives: This study aims to investigate the role of congenital single nucleotide thrombophilia in young females with early recurrent pregnancy loss (RPL). Methods: We studied 120 pregnant females with RPL and 80 matched females as a control with no RPL. Females were aged ≤ 35 years, had at least two consecutive first-trimester RPLs, and the acquired cause of RPL was excluded. A matched control group of 80 pregnant women with no RPL was studied. Coagulation tests included prothrombin time (PT), partial thromboplastin time (PTT), thrombin time (TT), a Factor XIII functional assay, and detecting IgM and IgG anti-beta2-Glycoprotein I (β2GPI) antibodies by an ELISA. The DNA samples were tested for Factor V Leiden, Factor II G20210A, Methylenetetrahydrofolate reductase (MTHFR C677T, A1298C), FXIII V34L, plasminogen activator inhibitor-1 (PAI-1) 4G/5G, endothelial protein C receptor (EPCR) A4600G, and endothelial protein C receptor (EPCR) G4678C. Results: Of the single nucleotide gene mutations investigated, the most relevant mutations were MTHFR C677T, MTHFR A1298C, heterozygous FXIII Val34Leu, and heterozygous FXIII 1694 C>T. Each of them conferred a statistically significant effect. There was a statistically significant protective role for the endothelial protein C receptor (EPCR) A2/A2, wild FXIII Val34Leu, and heterozygousFXIII1694 C>T. Conclusions: Our findings suggest the important role of congenital single nucleotide thrombophilia mutations in young Middle Eastern women with early RPL, particularly MTHFR mutations and FXIII Val34Leu. We found a protective effect of EPCR A2/A2, wild FXIIIVal34Leu, and heterozygous FXIII1694 C>T. We recommend additional studies to explore detrimental factors and protective factors.
Basha et al. (Fri,) conducted a case-control in Early recurrent pregnancy loss (RPL) (n=200). Congenital single nucleotide thrombophilia mutations vs. Matched pregnant females with no RPL was evaluated on Association of congenital single nucleotide thrombophilia mutations with early recurrent pregnancy loss. Congenital single nucleotide thrombophilia mutations, particularly MTHFR and FXIII Val34Leu, were significantly associated with early recurrent pregnancy loss in young Middle Eastern women.