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Polymorphisms of 5,10-Methylenetetrahydrofolate Reductase and Cystathionine β-Synthase Genes as a Risk Factor for Neural Tube Defects in Sétif, Algeria
- Source :
- Pediatric Neurosurgery. 45:472-477
- Publication Year :
- 2009
- Publisher :
- S. Karger AG, 2009.
-
Abstract
- Background: Neural tube defects (NTD) are severe congenital malformations due to a failure in neural tube formation at the beginning of pregnancy. The etiology of NTD is multifactorial, with environmental and genetic determinants. We suggest a study of gene-gene interactions regarding the possible association of NTD with specific mutations of 5,10-methylenetetrahydrofolate reductase (MTHFR) and cystathionine β-synthase (CBS) genes. Patients and Methods: The genetic analysis of the MTHFR C677T polymorphism was performed by real-time polymerase chain reaction (PCR) on a Light Cycler, the CBS genotype was analyzed by PCR in a thermal cycler. Ninety-two mothers who had conceived NTD children and 48 fathers were investigated. A group of 147 adults, including 82 apparently healthy women, was used as control. Results: Among control mothers, 35 (43%) were heterozygous for the C677T variant and 14 (17%) were TT homozygous. Among the cases, 25 (52%) out of 48 mothers and 22 (46%) out of 48 fathers carried the T allele; 9 mothers (19%) and 5 fathers (10%) had the TT genotype. A homozygous C677T mutation was not an NTD risk factor in this preliminary study in an Algerian population; a possible gene-gene interaction between the MTHFR C677T polymorphism and the CBS 844ins68 has also been examined in relation to NTD, but no such association has been shown. There was a statistically significant difference between the heterozygosity genotype frequency of CBS polymorphisms in mothers with a previous child with NTD compared with the mother controls (odds ratio: 3.72; 95% CI: 1.59–8.73). Conclusion: Our results with Algerian NTD mothers did not show a significant association for any group, suggesting that the thermolabile variant C677T in the MTHFR gene is not a risk factor for a mother to have NTD offspring; rather, folic acid supplementation or fortification should become mandatory for all women of reproductive age in Algeria.
- Subjects :
- Adult
Male
congenital, hereditary, and neonatal diseases and abnormalities
Genotype
Cystathionine beta-Synthase
macromolecular substances
Biology
Risk Assessment
Pregnancy
Reference Values
Polymorphism (computer science)
Confidence Intervals
Odds Ratio
Prevalence
medicine
Humans
Genetic Predisposition to Disease
Genetic Testing
Neural Tube Defects
Allele
Alleles
Methylenetetrahydrofolate Reductase (NADPH2)
Genetics
Polymorphism, Genetic
Reverse Transcriptase Polymerase Chain Reaction
Infant, Newborn
Case-control study
Neural tube
Gene Expression Regulation, Developmental
General Medicine
medicine.disease
Cystathionine beta synthase
nervous system diseases
Neurulation
medicine.anatomical_structure
Algeria
Case-Control Studies
Methylenetetrahydrofolate reductase
Pediatrics, Perinatology and Child Health
biology.protein
Female
Surgery
Neurology (clinical)
Subjects
Details
- ISSN :
- 14230305 and 10162291
- Volume :
- 45
- Database :
- OpenAIRE
- Journal :
- Pediatric Neurosurgery
- Accession number :
- edsair.doi.dedup.....2a031389f063168fc70f9cf917b68399
- Full Text :
- https://doi.org/10.1159/000283086