Gene-gene interaction between the cystathionine beta-synthase 31 base pair variable number of tandem repeats and the methylenetetrahydrofolate reductase 677C > T polymorphism on homocysteine levels and risk for neural tube defects.

@article{Afman2003GenegeneIB,
  title={Gene-gene interaction between the cystathionine beta-synthase 31 base pair variable number of tandem repeats and the methylenetetrahydrofolate reductase 677C > T polymorphism on homocysteine levels and risk for neural tube defects.},
  author={Lydia A Afman and Karin J A Lievers and Leo A. J. Kluijtmans and Frans J. M. Trijbels and Henk J. Blom},
  journal={Molecular genetics and metabolism},
  year={2003},
  volume={78 3},
  pages={211-5}
}
INTRODUCTION Most studies showed that mothers of children with NTD have elevated homocysteine levels pointing to a disturbed homocysteine metabolism as a risk factor for NTD. Folate lowers homocysteine levels by remethylation of homocysteine to methionine. Homocysteine can be irreversibly converted to cystathionine by the vitamin B6-dependent enzyme CBS. Recently, our group showed that a 31 bp VNTR in the CBS gene was associated with decreased CBS activity and increased tHcy levels after… CONTINUE READING
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