Folate-related genes and omphalocele

James L. Mills, Charlotte M. Druschel, Faith Pangilinan, Kenneth Pass, Christopher Cox, Rebecca R. Seltzer, Mary R. Conley, Lawrence C. Brody

Research output: Contribution to journalArticle


Women who take folic acid in the periconceptional period greatly reduce their chances of having a child with a neural tube defect (NTD). Using multivitamins may also reduce the risk of having a child with an omphalocele. In this study, we tested single nucleotide polymorphisms in folate-related enzyme genes for association with omphalocele. Polymorphisms in methylenetetrahydrofolate reductase (MTHFR), methylenete-trahydrofolate dehydrogenase (MTHFD1), the reduced folate carrier (SLC19A1), and transcobalamin II (TCN2) were examined in 25 children with euploid omphalocele and 59 matched controls. Omphalocele cases were significantly more likely to carry the T allele of MTHFR 677C → T, a known risk factor for NTDs (odds ratio 3.50, 95% confidence interval 1.07-11.47, P = 0.035). The MTHFD1 R653Q, SLC19A1 R27H, and TCN2 P259R polymorphisms showed no significant association with omphalocele. In this small study, the thermolabile variant of MTHFR, 677C → T, was associated with an increased risk for omphalocele. This variant causes reduced enzyme activity, thus suggesting a mechanism by which multivitamins with folic acid might prevent omphalocele. Additional investigation is required.

Original languageEnglish (US)
Pages (from-to)8-11
Number of pages4
JournalAmerican Journal of Medical Genetics
Volume136 A
Issue number1
StatePublished - Jul 1 2005
Externally publishedYes


  • Birth defects
  • Folate
  • Folic acid
  • Multivitamins
  • Omphalocele
  • Reduced folate carrier
  • Transcobalamin II
  • Ventral wall defects
  • Vitamins

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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