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Association of MTHFR C677T, MTHFR A1298C, and MTRR A66G Polymorphisms With Neural Tube Defects in Tunisian Parents

Association of MTHFR C677T, MTHFR A1298C, and MTRR A66G Polymorphisms With Neural Tube Defects in Tunisian Parents

Kaouther Nasri, Fatma Midani, Amani Kallel, Nadia Ben Jemaa, Mariem Aloui, Miryam Boulares, Mehdi Lassoued, Meriam Ben Halima, Safa Ben Wafi, Mariem Soussi, Imen Mahjoubi, Abir Baara, Mohamed Kacem Ben Fradj, etc.

Pathobiology. 2019;86(4):190-200.

PMID: 31238314

Abstract:

Objective:
This study aims to investigate the association of 5,10-methylenetetrahydrofolate reductase (MTHFR C677T and A1298C) and methionine synthase reductase (MTRR A66G) gene polymorphisms with neural tube defects (NTDs) in a Tunisian population.
Methods:
Genotyping was performed by polymerase chain reaction with restriction fragment length polymorphisms (PCR-RFLPs) using the restriction enzymes. Allele and genotype frequencies were compared between mothers and fathers of fetuses with NTDs with matched controls based on an association analysis using SPSS software.
Results:
MTHFR (C677T, A1298C) and MTRR A66G polymorphisms were found to be protector factors for NTD fetuses in the mother group. In addition, a combination of the three wild-type alleles C677/A1298/A66 has increased four-fold the incidence of NTDs (p = 0.004, OR = 3.96, 95% CI: 1.53-10.23). In the father group, MTHFR C677T was a risk factor for NTDs. However, no association was found between MTHFR A1298C, MTRR A66G, and the occurrence of this anomaly. The analysis of MTHFR C677T and MTRR A66G polymorphisms has demonstrated a significant difference in vitamin B12 levels between recessive and dominant genotypes in case mothers (p < 0.05).
Conclusion:
Additional studies are required to better understand the roles of parental gene polymorphisms related to folate-homocysteine metabolism in the pathogenesis of NTD.

Chemicals Related in the Paper:

Catalog Number	Product Name	Structure	CAS Number	Price
AP1166227082	A66		1166227-08-2	Price

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