Factor V Leiden and prothrombin G20210A mutations, but not methylenetetrahydrofolate reductase C677T, are associated with recurrent miscarriages

• Published in: Human reproduction (Oxford) 2000-02, Vol.15 (2), p.458-462
• Main Authors: Foka, Z.J., Lambropoulos, A.F., Saravelos, H., Karas, G.B., Karavida, A., Agorastos, T., Zournatzi, V., Makris, P.E., Bontis, J., Kotsis, A.
• Format: Article
• Language: English
• Subjects: Abortion, Habitual - genetics; Adult; Biological and medical sciences; Case-Control Studies; Diseases of mother, fetus and pregnancy; DNA Mutational Analysis; Factor V - genetics; factor V Leiden; Female; Gynecology. Andrology. Obstetrics; Humans; Medical sciences; Methylenetetrahydrofolate Reductase (NADPH2); Middle Aged; miscarriage; MTHFR C677T mutation; Odds Ratio; Oxidoreductases Acting on CH-NH Group Donors - genetics; Point Mutation; Pregnancy; Pregnancy. Fetus. Placenta; Prothrombin - genetics; prothrombin G20210A mutation
• ISSN: 0268-1161; 1460-2350; 1460-2350
• DOI: 10.1093/humrep/15.2.458

The aim of this study was to investigate the relationship between recurrent miscarriages and factor V Leiden, prothrombin G20210A and C677T methylenetetrahydrofolate reductase (MTHFR) mutations. In this case-control study the prevalence of factor V Leiden, prothrombin G20210A and C677T methylenetetrahydrofolate reductase mutations was determined in a consecutive series of 80 recurrent miscarriage patients and 100 controls. Fifteen of 80 recurrent miscarriage patients and four out of 100 controls carried the factor V Leiden mutation (19 versus 4%, P = 0.003, odds ratio 5.5, 95% confidence interval (CI): 1.7–17). Seven of 80 recurrent miscarriage patients and two of 100 controls were carriers of the prothrombin G20210A mutation (9 versus 2%, P = 0.038, odds ratio 4.6, 95% CI: 0.9–23.2). Six of 80 recurrent miscarriage women and 15 of 100 controls were homozygotes for the C677T MTHFR mutation (8 versus 15%, P = 0.134, odds ratio: 0.4, 95% CI: 0.1–1.2). Our results suggest that the presence of factor V Leiden and prothrombin G20210A polymorphism, but not MTHFR C677T homozygosity, could be additional risk factors for recurrent miscarriages. Furthermore, it was suggested that the prevalence of factor V Leiden and prothrombin G20210A mutations is more prominent in second trimester, primary fetal losses and it is independent of the existence of additional pathology predisposing to recurrent fetal losses.