Uticaj polimorfizma C677T gena za metilen-tetrahidrofolat reduktazu na nastanak spontanih pobačaja

Abstract

Introduction: Spontaneous abortion (SA) is a frequent obstetric complication. Up to 15% of pregnancies end by spontaneous abortion in the first trimester. Five percent of women have two, and 1-2% of women have more than three abortions. The risk of spontaneous abortion is influenced by variety of genetic and environmental factors. Enzyme methylenetetrahydrofolate reductase (MTHFR) is primarily involved in homocysteine remethylation to the methionine. Gene polymorphism C677T in the MTHFR gene causes enzyme thermolability which leads to hyperhomocysteinemia, that might increase the risk of developing placental thrombosis and spontaneous abortion. Aim: The aim of our study was to determine whether the MTHFR C677T polymorphism is associated with the increased risk of SA. Material and methods: This study included 157 women who had at least two unexplained spontaneous abortions and 135 healthy women with at least one child, without previous SA. Detection of MTHFR C677T polymorphism genotypes was performed by PCR-RFLPs method. Investigation of differences between genotype and allele frequencies, in the group of women with SA and the control group, was completed using the x2 test. Results: In the group of patients with recurrent spontaneous abortions, 58 of them had CC genotype (36.94%), 74 had CT genotype (47.13%), and 25 had TT genotype (15.92%). In the control group, 59 of them had CC genotype (43.07%), 55 had CT genotype (40.74%), and 21 had TT genotype (15.56%). The frequency of C allele in the group of patients was 60.51%, and T allele 39.49%; while the frequencies in the control group were 64.07% and 35.93%, respectively. The difference in the genotype (p=0.470) and allele (p=0.393) frequency between the two groups of patients was statistically insignificant. Conclusion: Our results do not show any influence of the analyzed polymorphism on SA.