Updated investigations of the role of methylenetetrahydrofolate reductase in human neural tube defects.
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| Abstract |
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 beta-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.
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| Authors | E Rampersaud, E C Melvin, D Siegel, L Mehltretter, M E Dickerson, T M George, D Enterline, J S Nye, M C Speer, NTD Collaborative Group |
| Journal | Clinical genetics (Clin Genet) Vol. 63 Issue 3 Pg. 210-4 (Mar 2003) ISSN: 0009-9163 [Print] Denmark |
| PMID | 12694231 (Publication Type: Journal Article, Research Support, U.S. Gov't, P.H.S.) |
| Copyright | Copyright Blackwell Munksgaard, 2003 |
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