Screening for C677t Methylene Tetrahydrofolate Reductase (Mthfr) Polymorphism in Mothers of Babies with Neural Tube Defects in Lagos, Nigeria

Abstract

Background:
The fact that the precise origin of a neural tube abnormality is unknown is worrisome. Some maternal clinicalconditions and habits such as diabetes mellitus, alcoholism, and drug use, as well as folic acid insufficiency have been linkedto its occurrence. The gene mutation for methylene tetrahydrofolate reductase (MTHFR C677T) is one of the potentialcorrelations as well.
Methodology:
Cross-sectional comparative analysis was used in this study. Fifty-five (55) mothers who had babies with neuraltube defects and 55 who had never had a baby with neural tube defect as well as any other congenital abnormalities wererandomly selected. Venous blood sample collected inside EDTA and plain bottles were used for the molecular analysis of theMTHFR C677T mutation and folate concentration respectively.
Results:
The frequency of the MTHFR homozygous dominant genotype (CC), heterozygous genotype (CT), and homozygousrecessive genotype (TT) was 46.4%, 3.6%, and 0%, respectively, while the control group's genotypes were 42.7%, 7.3%, and0% for the homozygous dominant CC, heterozygous CT, and homozygous recessive (TT) genotypes, respectively. Thegenotype distribution between the study and control groups did not show any statistical significance (p=0.359). Eleven (20%)of the 55 participants had low folate concentration, while 9 (16.7%) of the 55 participants in the control group had low folate.No statistically significant correlation between participants' folate levels and the prevalence of NTD was found (χ2=0.202,p=0.6533).
Conclusion:

This study showed that in babies born to Nigerian women, the MTHFR C677T polymorphism may notsignificantly contribute to the development of neural tube defects.