Polymorphism of MTHFR 677 C> T in recurrent pregnancy loss
Tetiana Loskutova (UA), Nataliia Davydenko (UA)
[Loskutova] State Establishment "Dnipropetrovsk Medical Academy of Health Ministry of Ukraine“, [Davydenko] Public Institution "Dnepropetrovsk Center of Primary Health Care N 3"
Context. The frequency of RPL ranges from 16 to 20%. The influence of inherited defects of hemostasis on the realization of generative function of women with RPL is actively studied. Objective. To determine the effect of the polymorphism MTHFR 677 C>T in women with RPL in the development of this complication of pregnancy. Methods. This prospective, case-control study looked the association between mutation of MTHFR 677 C>T and RPL. With PCR were detected genetic polymorphisms in MTHFR 677 C>T. Statistical analysis was performed using chi-square test, odds ratio (OR) with 95% confidence interval (CI), t tests. Patient(s). 58 pregnant women with recurrent pregnancy loss and 34 healthy pregnant women (control group) were examined. Main Outcome Measure(s) – high dependence of RPL by the presence of mutation MTHFR T677T was determined. Result(s). Parity pregnancy in women of the main group ranged from 2 to 14 and the average was 3.0 [2.0; 3.0], while in the control group, this was the first pregnancy in 58.8% of women, and the average number of pregnancies per woman was 1.0 [1.0; 2,0] (p <0.001). Analysis of genotypes and allele frequencies of MTHFR 677 C>T showed that they had significant differences (p <0.001) in the study groups. In the main group homozygous mutation of folate metabolism (677 TT MTHFR) were identified in 20.7% (C=0%, p = 0,012, OR = 18,55, 95% CI: 1,06-324,0), heterozygous form MTHFR 677 CT were observed in 2 times more often than in control group (50.0% vs. 23.5%, p = 0,012, OR = 3,25, 95% CI: 1,26-8,36). Conclusions. Woman who carries of homozygous (677 TT) and heterozygous (677 CT) mutation of MTHFR have high risk for recurrent miscarriage. Women with RPL recommended screening for MTHFR 677 C>T mutation and detaction homocysteine levels, for the correction of dosage and duration of folic acid intake during pregnancy.