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

Clin Genet. 1999 Aug;56(2):142-4. doi: 10.1034/j.1399-0004.1999.560208.x.

Abstract

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.

Publication types

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

MeSH terms

  • Alleles
  • Case-Control Studies
  • Cystathionine beta-Synthase / genetics*
  • Female
  • Genotype*
  • Homozygote
  • Humans
  • Male
  • Meningomyelocele / genetics
  • Methylenetetrahydrofolate Reductase (NADPH2)
  • Neural Tube Defects / genetics*
  • Odds Ratio
  • Oxidoreductases Acting on CH-NH Group Donors / genetics*
  • Polymorphism, Genetic

Substances

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