Subject(s)
Factor V/genetics , Hemophilia A/genetics , Point Mutation , Prothrombin/genetics , Adolescent , Adult , Case-Control Studies , DNA Mutational Analysis , Female , Gene Frequency , Greece/epidemiology , Humans , Male , Middle AgedABSTRACT
The aim of the study was to explore a possible association between methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism and cervical neoplasia. A total of 229 women were subjected to cytologic and colposcopic evaluation. Ninety-one of them were found to be normal, and served as the control group, while the other 138 of them had present or past histologically proven cervical pathology (patients group). All patients and controls were investigated for the MTHFR C677T polymorphism. Statistical analysis between the groups of cases with cervical intraepithelial neoplasia or invasive cervical cancer and the control group did not reveal any statistically significant difference in the frequency of the MTHFR C677T polymorphism.
Subject(s)
Oxidoreductases Acting on CH-NH Group Donors/genetics , Polymorphism, Genetic , Uterine Cervical Dysplasia/genetics , Uterine Cervical Neoplasms/genetics , Adult , Case-Control Studies , Cohort Studies , DNA Methylation , DNA Primers/chemistry , Female , Folic Acid/metabolism , Genetic Predisposition to Disease , Genotype , Humans , Methylenetetrahydrofolate Reductase (NADPH2) , Microsatellite Repeats , Middle Aged , Neoplasm Invasiveness , Odds Ratio , Polymerase Chain Reaction , Retrospective Studies , Risk Factors , Uterine Cervical Dysplasia/epidemiology , Vaginal SmearsABSTRACT
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.