The C677T Variant in the Methylenetetrahydrofolate Reductase Gene and Idiopathic Spontaneous Abortion in a Romanian Population Group

Radu A Popp,Mariela S Militaru,Marius F Farcas,Tania O Crisan,Ioana C Rotar,Ioan V Pop,Adrian P Trifa

doi:10.15835/nsb417259

Radu A Popp, Mariela S Militaru + Show 5 more

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https://doi.org/10.15835/nsb417259

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Abstract

Spontaneous abortions (SA) are a major public health problem and a frequent pregnancy associated disorder. Hereditary thrombophilia and hyperhomocysteinemia are considered to be important factors altering the placental circulation, the in utero development and the evolution of pregnancy. The MTHFR gene (methylenetetrahydrofolate reductase) exhibits an intensely studied polymorphism, C677T, that was repeatedly associated with hyperhomocysteinemia, increased thrombotic risk and was studied in relation with SA susceptibility. This study was aim to assessing the correlation of this polymorphism with idiopathic sporadic or recurrent SA in a Romanian population. In the case-control study, 131 patients with a history of SA and 135 women with no SA and at least one uneventful term delivery were included. The PCR-RFLP technique (Polymerase Chain Reaction-Restriction Fragment Length Polymorphism) was used to genotype the cases and controls and the results were analysed using the ?2 test. The present analysis indicates that the MTHFR 677TT homozygous genotype is positively associated with recurrent idiopathic SA (OR 2.493, 95%CI 0.974, 6.379, p-value 0.06). This association was no longer observed in sporadic SA patients (OR 1.214, 95%CI 0.488, 3.017, p-value 0.814). In conclusion, the present study is consistent with previous reports which state that the presence of MTHFR 677T variant in homozygous status could represent a genetic susceptibility factor for recurrent idiopathic SA. Moreover, this is the first attempt to investigate this correlation in a Romanian group and to offer epidemiological support in estimating the frequencies of some common genetic variants in the Romanian population.

Highlights

At present, reproductive failure is one of the major public health problems
The aim of the present study is to investigate the distribution of the MTHFR C677T polymorphism as a possible genetic risk factor for idiopathic spontaneous abortion (SA) in a Romanian population group
Association analyses have been conducted for all SA cases as well as for the two case subgroups described earlier compared to controls

Summary

Introduction

Reproductive failure is one of the major public health problems. In humans, the probability of conception during one menstrual cycle is approximated at a maximum of 40% (Kavalier et al, 2005). 1015% of clinically recognized pregnancies end in spontaneous abortion (SA). The causes of this can be fetal or maternal, anatomical, infectious, immunological or genetic, and in aproximately 50% of cases, despite all investigations, the causes cannot be determined. In this latter situation, the SA is declared idiopathic (Carp et al, 2004; Kavalier et al, 2005 Royal College of Obstetricians and Gynecologists, 2003). Numerous studies focus on the mechanism through which hyperhomocysteinemia, hereditary trombophilia (such as protein C or protein S deficiency, the factor V Leiden mutation, the prothrombin G20210A mutation) or combinations of these factors, could influence the normal in utero development and even play a role in spontaneous abortion etiology.

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