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

Raffaella De Franchis, Lorenzo D. Botto, Gianfranco Sebastio, Roberta Ricci, Achille Iolascon, Valeria Capra, Generoso Andria, Pierpaolo Mastroiacovo

Research output: Contribution to journalArticlepeer-review


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-β-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.

Original languageEnglish
Pages (from-to)126-130
Number of pages5
JournalGenetics in Medicine
Issue number3
Publication statusPublished - May 2002


  • Epidemiology
  • Folate
  • Genetics
  • Interaction
  • Spina bifida

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics


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