Spina bifida and folate-related genes: a study of gene-gene interactions

Genet Med. 2002 May-Jun;4(3):126-30. doi: 10.1097/00125817-200205000-00005.

Abstract

Purpose: To assess whether interactions of common alleles of two folate genes contribute to spina bifida risk.

Methods: Case-control study, comparing 203 children with spina bifida to 583 controls.

Results: Homozygosity for the 677C-T allele of 5,10-methylenetetrahydrofolate reductase (MTHFR) alone was associated with an odds ratio for spina bifida of 1.57 (95% confidence interval [CI], 1.02-2.38). For the 844ins68 allele of cystathionine-beta-synthase alone, the odds ratio was 0.83 (95% CI, 0.39-1.64). For the joint genotype, the odds ratio was 3.69 (95% CI, 1.04-13.50).

Conclusions: Interactions between common alleles of folate genes might contribute to the risk for spina bifida.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Case-Control Studies
  • Child
  • Child, Preschool
  • Cystathionine beta-Synthase / genetics*
  • Cystathionine beta-Synthase / metabolism
  • Folic Acid / genetics*
  • Humans
  • Infant
  • Lod Score
  • Methylenetetrahydrofolate Reductase (NADPH2)
  • Mutation
  • Oxidoreductases Acting on CH-NH Group Donors / genetics*
  • Oxidoreductases Acting on CH-NH Group Donors / metabolism
  • Spinal Dysraphism / genetics*
  • Spinal Dysraphism / metabolism

Substances

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