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

Journal Article (Journal 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.

Full Text

Duke Authors

Cited Authors

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

Published Date

  • September 1997

Published In

Volume / Issue

  • 1 / 2

Start / End Page

  • 149 - 150

PubMed ID

  • 10732818

International Standard Serial Number (ISSN)

  • 1364-6745

Digital Object Identifier (DOI)

  • 10.1007/s100480050022


  • eng

Conference Location

  • United States