The thermolabile variant of methylenetetrahydrofolate reductase (MTHFR) is not a major risk factor for neural tube defect in American Caucasians. The NTD Collaborative Group.

Academic Article


  • Mutations in the gene for methylenetetrahydrofolate reductase (MTHFR) have been implicated as a risk factor in the formation of neural tube defects. We investigated this gene in a series of 65 sporadic American Caucasian patients with lumbosacral NTD and their unaffected parents, using both case-control design and assessment of linkage disequilibrium. We found no evidence to support mutations in MTHFR as a significant risk factor for NTD in this population.
  • Authors

    Published In

  • neurogenetics  Journal
  • Keywords

  • Alleles, Case-Control Studies, Enzyme Stability, European Continental Ancestry Group, Female, Gene Frequency, Genetic Variation, Genotype, Humans, Male, Methylenetetrahydrofolate Reductase (NADPH2), Neural Tube Defects, Oxidoreductases Acting on CH-NH Group Donors, Risk Factors, Temperature
  • Author List

  • Speer MC; Worley G; Mackey JF; Melvin E; Oakes WJ; George TM
  • Start Page

  • 149
  • End Page

  • 150
  • Volume

  • 1
  • Issue

  • 2