The thermolabile variant of methylenetetrahydrofolate reductase (MTHFR) is not a major risk factor for neural tube defect in American Caucasians |
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| Authors: | M.C. Speer G. Worley J.F. Mackey E. Melvin W.J. Oakes T.M. George |
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| Affiliation: | (1) Department of Medicine, Duke University Medical Center, Durham, NC 27710, USA, US;(2) Department of Pediatrics, Duke University Medical Center, Durham, NC 27710, USA, US;(3) Department of Surgery, University of Alabama, Birmingham, AL 35233, USA, US;(4) Department of Surgery and Pediatrics, Duke University Medical Center, Durham, NC 27710, USA, US |
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| Abstract: | Mutations in the gene for methylenetetrahydrofolate reductase (MTHFR) have been implicated as a risk factor in the formation of neural tube defects. We investigated this gene in a series of 65 sporadic American Caucasians patients with lumbosacral NTD and their unaffected parents, using both case-control design and assessment of linkage disequilibrium. We found no evidence to support mutations in MTHFR as a significant risk factor for NTD in this population. Received April 28, 1997; Revised and Accepted June 20, 1997 |
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| Keywords: | : genetics spina bifida MTHFR TDT |
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