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BIBTEX RIS

Impact of the MTHFR C677T polymorphism on risk of neural tube defects: case-control study

2004; BMJ; Volume: 328; Issue: 7455 Linguagem: Inglês

10.1136/bmj.38036.646030.ee

ISSN

0959-8138

Autores

Peadar N. Kirke, James L. Mills, Anne M. Molloy, Lawrence C. Brody, Valerie B. O’Leary, Leslie Daly, Sharon C. Murray, Mary Conley, Philip Mayne, O Smith, John M. Scott,

Tópico(s)

Congenital Anomalies and Fetal Surgery

Resumo

Homozygosity for the T allele of the C677T polymorphism of the gene encoding the folate dependent enzyme 5,10-methylenetetrahydrofolate reductase (MTHFR) is a risk factor for neural tube defects. 1 Both the homozygous (TT) and heterozygous (CT) genotypes are associated with lower tissue concentrations of folate, higher homocysteine concentrations, and lower enzyme activity than the wild type (CC) genotype; these effects are more marked in homozygotes.Low folate and raised homocysteine levels in early pregnancy are risk factors for neural tube defects. 2 We investigated the possibility that the CT genotype would also increase the risk of these malformations.

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