C677T polymorphism of the methylentetrahydrofolate reductase gene in mothers of children affected with neural tube defects

Neural tube defects (NTD) are the most common congenital anomalies of the central nervous system, with a multifactorial pattern of inheritance, presumably involving the interaction of several genetic and environmental factors. The methylenetetrahydrofolate reductase (MTHFR) gene 677C>T polymorphi...

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Bibliographic Details
Published inInvestigación clínica Vol. 56; no. 3; p. 284
Main Authors Morales de Machín, Alisandra, Méndez, Karile, Solís, Ernesto, Borjas de Borjas, Lisbeth, Bracho, Ana, Hernández, María Luisa, Negrón, Aimara, Delgado, Wilmer, Sánchez, Yanira
Format Journal Article
LanguageSpanish
Published Venezuela 01.09.2015
Subjects
Adolescent
Adult
Case-Control Studies
Female
Gene Frequency
Genetic Predisposition to Disease
Genotype
Humans
Infant, Newborn
Male
Methylenetetrahydrofolate Reductase (NADPH2) - genetics
Middle Aged
Neural Tube Defects - epidemiology
Neural Tube Defects - genetics
Polymerase Chain Reaction
Polymorphism, Genetic
Pregnancy
Risk Factors
Young Adult
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Summary:Neural tube defects (NTD) are the most common congenital anomalies of the central nervous system, with a multifactorial pattern of inheritance, presumably involving the interaction of several genetic and environmental factors. The methylenetetrahydrofolate reductase (MTHFR) gene 677C>T polymorphism has been implicated as a risk factor for NTD. The main objective of this research was to investigate the association of the 677C>T polymorphism of the MTHFR gene as a genetic risk factor for NTD. Molecular analysis was performed in DNA samples from 52 mothers with antecedent of NTD offspring and from 119 healthy control mothers. Using the Polymerase Chain Reaction, a 198 bases pairs fragment was digested with the restriction enzyme Hinfi. 677T MTHFR allele frequencies for the problem and the control groups were 51.92% and 34.45%, respectively, and 677C MTHFR allele frequencies were 48.08% and 65.55%, respectively. There were significant differences in allele (p: 0.002) and genotype (p: 0.007) frequencies between these two groups. The odds ratio (OR) to the TT genotype vs. the CC genotype was estimated as OR: 4.9 [95% CI: 1,347-6.416] p: 0.002; CT+TT vs. CC: OR: 2.9 [95% CI: 1.347-6.416] p: 0.005; TT vs. CT+CC: OR: 2.675 [95% CI: 1,111-6.441] p: 0.024. The data presented in this study support the relationship between MTHFR 677C>T polymorphism and risk in mothers with antecedent of NTD offspring.
ISSN:0535-5133