A common ABCC2 promoter polymorphism is not a determinant of the risk of spina bifida

Liselotte E. Jensen, Amelia M. Wall, Michelle Cook, Katy Hoess, Caroline F. Thorn, Alexander S. Whitehead, Laura E. Mitchell

Research output: Contribution to journalArticlepeer-review

11 Scopus citations

Abstract

BACKGROUND: There is compelling evidence that the risk of spina bifida, a malformation of the caudal neural tube, is associated with maternal and/or embryonic disturbances in folate/homocysteine metabolism. Hence, functional variants of genes that influence folate/homocysteine metabolism constitute a biologically plausible group of candidate risk factors for spina bifida and other neural tube defects. One such candidate is ABCC2, the gene encoding ABCC2, (a.k.a. canalicular multispecific organic anion transporter [cMOAT], multidrug resistance related protein 2 [MRP2]), a member of the ABC transporter family that effluxes natural folates and anti-folate drugs such as methotrexate. METHODS: The association between the risk of spina bifida and both the maternal and embryonic ABCC2 C(-24)T genotype was evaluated by using the transmission disequilibrium test and log-linear modeling. RESULTS: These analyses provided no evidence that the risk of spina bifida was significantly related to either the maternal or embryonic ABCC2 C(-24)T genotype. CONCLUSIONS: The results of the present analyses suggest that the C(-24)T variant of the ABCC2 gene is not a major determinant of spina bifida risk.

Original languageEnglish
Pages (from-to)396-399
Number of pages4
JournalBirth Defects Research Part A - Clinical and Molecular Teratology
Volume70
Issue number6
DOIs
StatePublished - Jun 2004

Keywords

  • Association study
  • Birth defect
  • Folate efflux
  • Neural tube defect

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