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Metabolic effects and the methylenetetrahydrofolate reductase (MTHFR) polymorphism associated with neural tube defects in southern Brazil.

Abstract

BACKGROUND

The importance of metabolic factors in neural tube defects (NTDs) has been the focus of many investigations. Several authors have suggested that abnormalities in homocysteine metabolism, such as hyperhomocysteinemia, folate deficiency, and low vitamin B12, may be responsible for these malformations and that both nutritional factors and genetic abnormalities are associated with them.

METHODS

We conducted a case-control study to investigate the influence of biochemical and genetic factors in NTDs in infants in southern Brazil. Levels of folate, vitamin B12, total homocysteine (t-Hcy) and the 677C>T and 1298A>C polymorphisms of the MTHFR gene were analyzed in 41 NTD child-mother pairs and 44 normal child-mother control pairs.

RESULTS

Subjects in the case group had a higher mean blood folate level than those in the control group. The level of vitamin B12 was lower in mothers in the NTD group than in control mothers (p = 0.004). The level of t-Hcy was not different in the two groups, but t-Hcy and vitamin B12 were correlated (p = 0.002). There was no difference in the genotype distribution for 677C>T and 1298A>C polymorphisms of MTHFR in the case and control pairs. The level of t-Hcy was correlated with 677TT.

CONCLUSIONS

Despite the small sample in this study, we suggest that low vitamin B12 and, consequently, hyperhomocysteinemia are important risk factors for NTDs in our population.

Authors+Show Affiliations

Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil. temis-feliz@uiowa.eduNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

15259035

Citation

Félix, Têmis Maria, et al. "Metabolic Effects and the Methylenetetrahydrofolate Reductase (MTHFR) Polymorphism Associated With Neural Tube Defects in Southern Brazil." Birth Defects Research. Part A, Clinical and Molecular Teratology, vol. 70, no. 7, 2004, pp. 459-63.
Félix TM, Leistner S, Giugliani R. Metabolic effects and the methylenetetrahydrofolate reductase (MTHFR) polymorphism associated with neural tube defects in southern Brazil. Birth Defects Res Part A Clin Mol Teratol. 2004;70(7):459-63.
Félix, T. M., Leistner, S., & Giugliani, R. (2004). Metabolic effects and the methylenetetrahydrofolate reductase (MTHFR) polymorphism associated with neural tube defects in southern Brazil. Birth Defects Research. Part A, Clinical and Molecular Teratology, 70(7), pp. 459-63.
Félix TM, Leistner S, Giugliani R. Metabolic Effects and the Methylenetetrahydrofolate Reductase (MTHFR) Polymorphism Associated With Neural Tube Defects in Southern Brazil. Birth Defects Res Part A Clin Mol Teratol. 2004;70(7):459-63. PubMed PMID: 15259035.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Metabolic effects and the methylenetetrahydrofolate reductase (MTHFR) polymorphism associated with neural tube defects in southern Brazil. AU - Félix,Têmis Maria, AU - Leistner,Sandra, AU - Giugliani,Roberto, PY - 2004/7/20/pubmed PY - 2005/2/3/medline PY - 2004/7/20/entrez SP - 459 EP - 63 JF - Birth defects research. Part A, Clinical and molecular teratology JO - Birth Defects Res. Part A Clin. Mol. Teratol. VL - 70 IS - 7 N2 - BACKGROUND: The importance of metabolic factors in neural tube defects (NTDs) has been the focus of many investigations. Several authors have suggested that abnormalities in homocysteine metabolism, such as hyperhomocysteinemia, folate deficiency, and low vitamin B12, may be responsible for these malformations and that both nutritional factors and genetic abnormalities are associated with them. METHODS: We conducted a case-control study to investigate the influence of biochemical and genetic factors in NTDs in infants in southern Brazil. Levels of folate, vitamin B12, total homocysteine (t-Hcy) and the 677C>T and 1298A>C polymorphisms of the MTHFR gene were analyzed in 41 NTD child-mother pairs and 44 normal child-mother control pairs. RESULTS: Subjects in the case group had a higher mean blood folate level than those in the control group. The level of vitamin B12 was lower in mothers in the NTD group than in control mothers (p = 0.004). The level of t-Hcy was not different in the two groups, but t-Hcy and vitamin B12 were correlated (p = 0.002). There was no difference in the genotype distribution for 677C>T and 1298A>C polymorphisms of MTHFR in the case and control pairs. The level of t-Hcy was correlated with 677TT. CONCLUSIONS: Despite the small sample in this study, we suggest that low vitamin B12 and, consequently, hyperhomocysteinemia are important risk factors for NTDs in our population. SN - 1542-0752 UR - https://www.unboundmedicine.com/medline/citation/15259035/Metabolic_effects_and_the_methylenetetrahydrofolate_reductase__MTHFR__polymorphism_associated_with_neural_tube_defects_in_southern_Brazil_ L2 - https://doi.org/10.1002/bdra.20011 DB - PRIME DP - Unbound Medicine ER -