Reduced folate carrier polymorphisms and neural tube defect risk.

  title={Reduced folate carrier polymorphisms and neural tube defect risk.},
  author={Valerie B O'leary and Faith J Pangilinan and Christopher Cox and Anne Parle-McDermott and Mary R Conley and Anne M. Molloy and Peadar N. Kirke and James L. Mills and Lawrence C. Brody and John M. Scott},
  journal={Molecular genetics and metabolism},
  volume={87 4},
The reduced folate carrier (RFCI) is essential for folate transport into cells. Low folate is an important cause of neural tube defects (NTDs), and a single-nucleotide polymorphism (H27R) (80G-->A) in the RFCI gene has been reported to be a NTD risk factor. We investigated H27R and a 61 bp tandem repeat polymorphism as potential risk factors for NTDs, using a large homogeneous Irish population by case/control comparison, log-linear analysis, and transmission disequilibrium testing. No… CONTINUE READING


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