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

Neurogenetics. 1997 Sep;1(2):149-50. doi: 10.1007/s100480050022.


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.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Alleles
  • Case-Control Studies
  • Enzyme Stability
  • Female
  • Gene Frequency
  • Genetic Variation
  • Genotype
  • Humans
  • Male
  • Methylenetetrahydrofolate Reductase (NADPH2)
  • Neural Tube Defects / enzymology
  • Neural Tube Defects / genetics*
  • Oxidoreductases Acting on CH-NH Group Donors / genetics*
  • Oxidoreductases Acting on CH-NH Group Donors / metabolism
  • Risk Factors
  • Temperature
  • Whites / genetics*


  • Oxidoreductases Acting on CH-NH Group Donors
  • Methylenetetrahydrofolate Reductase (NADPH2)