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Year : 2023  |  Volume : 12  |  Issue : 1  |  Page : 160

Polymorphisms in maternal selected folate metabolism-related genes in neural tube defect-affected pregnancy

1 Department of Biochemistry, School of Medicine, College of Health Sciences, Addis Ababa University, Ethiopia, East Africa
2 Biochemistry Division of Basic Sciences, University of Global Health Equity, Kigali, Rwanda, East Africa
3 Department of Neurosurgery, School of Medicine, College of Health Sciences, Addis Ababa University, Ethiopia, East Africa
4 Department of Obstetrics and Gynecology, School of Medicine, College of Health Sciences, Addis Ababa University, Ethiopia, East Africa
5 Department of Biotechnology and Bioinformatics, Armauer Hansen Research Institute, Addis Ababa, Ethiopia, East Africa

Correspondence Address:
Dr. Winner K Dewelle
Department of Biochemistry, College of Health Sciences, Addis Ababa University, Addis Ababa
East Africa
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/abr.abr_103_22

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Background: Neural tube defects (NTDs) are abnormalities of the brain and spinal cord, which occur as a result of failure in neural tube closure during embryogenesis. Causes of NTDs are complex and multiple, with hereditary, lifestyle, and environmental factors appearing to play a role. In spite of their impact on public health, the role genetics play on NTDs in Ethiopia is lacking. In this study, the role of polymorphisms in MTHFR 677C > T (rs1801133), MTHFR 1298A > C (rs1801131), MTRR 66A > G (rs1801394), RFC1 80A > G (rs1051266), and TCN2 776C > G (rs1801198) on the risk of having NTD-affected pregnancy was investigated. Materials and Methods: One hundred women with NTD-affected pregnancy and 100 women with normal pregnancy were included in the study. DNA was extracted from saliva and genotyping for five polymorphisms in four genes was analyzed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). The departure of the genotype's distribution from Hardy–Weinberg equilibrium (HWE) was evaluated using the x2 goodness-of-fit test. Frequencies of genotypes and alleles in case and control mothers were determined and differences between relative frequencies were evaluated by the x2 or the Fisher's exact test. Results: The statistically significant difference was absent in the genotype and allele frequencies for all the analyzed polymorphisms between cases and controls (P > 0.05). Conclusion: MTHFR 677C > T, MTHFR 1298A > C, MTRR 66A > G, RFC1 80A > G, and TCN2 776C > G polymorphisms lack association with the risk of having a pregnancy affected by NTD. The role of other genes or environmental factors in NTD etiology needs to be investigated.

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