Updated investigations of the role of methylenetetrahydrofolate reductase in human neural tube defects

E. Rampersaud, E. C. Melvin, D. Siegel, L. Mehltretter, M. E. Dickerson, T. M. George, D. Enterline, J. S. Nye, Marcy C. Speer, Joanna Aben, Arthur Aylsworth, Cynthia Powell, Timothy Brei, Connie Buran, Joann Bodurtha, Kathleen Sawin, Mark S. Dias, Bermans Iskandar, Bonnie Ohm, Nicole LasarskyDavid McLone, Joy Ito, W. Jerry Oakes, Marion Walker, Paula Peterson

Research output: Contribution to journalArticlepeer-review

29 Scopus citations


Folate supplementation appears to reduce the risk for neural tube defects (NTDs). Methylenetetrahydrofolate reductase (MTHFR) is a candidate gene in the folate metabolism pathway that has been extensively studied in different human populations. We examined the risk associated with having the thermolabile variant (TT) of MTHFR in a study of 175 American Caucasians with NTDs and their families. We found a significant association in patients compared with 195 unrelated controls [odds ratio (OR) = 2.13, 95 % confidence interval (95% CI) = 1.11-4.09)], but not in mothers (OR = 1.29, 95% CI = 0.622-2.67) or in fathers (OR = 1.45, 95% CI = 0.681-3.09). We found no evidence for unequal transmission from parents to an affected child (p > 0.10). We failed to find a previously reported association for a combined haplotype for MTHFR and cystathionine β-synthase, except in subjects with NTDs compared with 559 pooled controls (OR = 2.87, 95% CI = 1.03-8.03). We found no evidence for an association for a novel CA-repeat polymorphism identified in a gene closely linked to MTHFR (p > 0.10). Our studies continue to suggest that additional candidate genes other than MTHFR may be responsible for an increased risk to NTD in some American Caucasian families.

Original languageEnglish (US)
Pages (from-to)210-214
Number of pages5
JournalClinical Genetics
Issue number3
StatePublished - Mar 1 2003

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)


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