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

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. Genotyping was performed by polymerase chain reaction with re...

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Bibliographic Details
Published in:	Pathobiology (Basel) Vol. 86; no. 4; p. 190
Main Authors:	Nasri, Kaouther, Midani, Fatma, Kallel, Amani, Ben Jemaa, Nadia, Aloui, Mariem, Boulares, Miryam, Lassoued, Mehdi, Ben Halima, Meriam, Ben Wafi, Safa, Soussi, Mariem, Mahjoubi, Imen, Baara, Abir, Ben Fradj, Mohamed Kacem, Omar, Souhail, Feki, Moncef, Jemaa, Riadh, Gaigi, Soumeya Siala, Marrakchi, Raja
Format:	Journal Article
Language:	English
Published:	Switzerland 01-01-2019
Subjects:	Alleles Fathers Female Ferredoxin-NADP Reductase - genetics Folic Acid - metabolism Genetic Predisposition to Disease Genotype Homocysteine - metabolism Homocystinuria - genetics Humans Male Methylenetetrahydrofolate Reductase (NADPH2) - deficiency Methylenetetrahydrofolate Reductase (NADPH2) - genetics Mothers Muscle Spasticity - genetics Neural Tube Defects - genetics Neural Tube Defects - physiopathology Polymorphism, Restriction Fragment Length Polymorphism, Single Nucleotide Pregnancy Psychotic Disorders - genetics Tunisia Tunisia MTHFR A1298C MTHFR C677T MTRR A66G Tunisian population Neural tube defects
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Summary:	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. 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. 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). Additional studies are required to better understand the roles of parental gene polymorphisms related to folate-homocysteine metabolism in the pathogenesis of NTD.
ISSN:	1423-0291
DOI:	10.1159/000499498