Possible interaction of genotypes at cystathionine beta-synthase and methylenetetrahydrofolate reductase (MTHFR) in neural tube defects. NTD Collaborative Group.

Journal Article (Journal Article)

Neural tube defects are a common, complex disorder with genetic and environmental components to risk. We investigated the previously reported interaction between homozygosity for the thermolabile variant at the methylenetetrahydrofolate reductase and heterozygosity for the 844ins68 allele at the cystathionine beta-synthase loci in cases with lumbosacral myelomeningocele and their parents. Using control allele frequencies from our sample pooled with those published in the literature, we confirm a marginally significant interaction at these two loci. This finding suggests that additional, larger studies are warranted to investigate this possible interaction in more detail.

Full Text

Duke Authors

Cited Authors

  • Speer, MC; Nye, J; McLone, D; Worley, G; Melvin, EC; Viles, KD; Franklin, A; Drake, C; Mackey, J; George, TM

Published Date

  • August 1999

Published In

Volume / Issue

  • 56 / 2

Start / End Page

  • 142 - 144

PubMed ID

  • 10517251

International Standard Serial Number (ISSN)

  • 0009-9163

Digital Object Identifier (DOI)

  • 10.1034/j.1399-0004.1999.560208.x


  • eng

Conference Location

  • Denmark