Polymorphisms within the vitamin B12 dependent methylmalonyl-coA mutase are not risk factors for neural tube defects

Anne Parle-McDermott, Edward J. McManus, James L. Mills, Valerie B. O'Leary, Faith Pangilinan, Christopher Cox, Andrea Weiler, Anne M. Molloy, Mary Conley, Deborah Watson, John M. Scott, Lawrence C. Brody, Peadar N. Kirke

Research output: Contribution to journalArticlepeer-review

6 Scopus citations


Methionine synthase and methylmalonyl-CoA mutase (mutase) are the only two known vitamin B12 (B12) dependent enzymes in humans. A lower level of B12 has been shown to be an independent maternal risk factor for neural tube defects (NTDs) prompting an investigation of common genetic variants within B12 dependent enzymes. To investigate the role of methylmalonyl-CoA mutase variants we studied 279 complete NTD triads (NTD affected case and both parents) and 256 controls. Based on case-control and family based (transmission disequilibrium test) analyses we did not find an association between the mutase single nucleotide polymorphisms (SNPs) K212K (636A → G), H532R (1595A → G) and V671I (2011G → A) and NTDs. However, there was a significant difference in the frequencies of these polymorphisms between a group of African Americans and American Caucasians (K212K, P = 0.002; H532R, P ≤ 0.001; V671I, P = 0.006). In conclusion, common variants in the mutase gene do not appear to be risk factors for NTDs but their allele frequencies are significantly different between ethnic groups.

Original languageEnglish (US)
Pages (from-to)463-468
Number of pages6
JournalMolecular genetics and metabolism
Issue number4
StatePublished - Dec 2003
Externally publishedYes


  • B
  • Folate
  • Homocysteine
  • MMA
  • MUT
  • Methylmalonyl-CoA
  • Neural tube defects
  • Spina Bifida

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Biochemistry
  • Molecular Biology
  • Genetics
  • Endocrinology


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