title: Factor V leiden and prothrombin G20210A mutations, but not methylenetetrahydrofolate reductase C677T, are associated with recurrent miscarriages.
abstract: 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.
authors.affiliation: Biology Department, Hippokration Hospital and Thrombosis and Haemostasis Unit, AHEPA University Hospital, Medical School, Aristotle University of Thessaloniki, Greece.
authors.forename: Z J
authors.initials: ZJ
authors.lastname: Foka
authors.forename: A F
authors.initials: AF
authors.lastname: Lambropoulos
authors.forename: H
authors.initials: H
authors.lastname: Saravelos
authors.forename: G B
authors.initials: GB
authors.lastname: Karas
authors.forename: A
authors.initials: A
authors.lastname: Karavida
authors.forename: T
authors.initials: T
authors.lastname: Agorastos
authors.forename: V
authors.initials: V
authors.lastname: Zournatzi
authors.forename: P E
authors.initials: PE
authors.lastname: Makris
authors.forename: J
authors.initials: J
authors.lastname: Bontis
authors.forename: A
authors.initials: A
authors.lastname: Kotsis
mesh_terms: D000026:Abortion, Habitual / Q000235:genetics*; D000328:Adult; D016022:Case-Control Studies; D004252:DNA Mutational Analysis; D005165:Factor V / Q000235:genetics*; D005260:Female; D006801:Humans; D042965:Methylenetetrahydrofolate Reductase (NADPH2); D008875:Middle Aged; D016017:Odds Ratio; D000587:Oxidoreductases Acting on CH-NH Group Donors / Q000235:genetics*; D017354:Point Mutation; D011247:Pregnancy; D011516:Prothrombin / Q000235:genetics*
chemical_list: C095381:factor V Leiden; D005165:Factor V; D011516:Prothrombin; D000587:Oxidoreductases Acting on CH-NH Group Donors; D042965:Methylenetetrahydrofolate Reductase (NADPH2)