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Possible interaction of genotypes at cystathionine β-synthase and methylenetetrahydrofolate reductase (MTHFR) in neural tube defects


Corresponding author: Marcy C. Speer, Ph.D., Duke University Medical Center, Box 3445, Durham 27710, NC. Tel: +1 919 684 2702; fax +1 919 684 2275; e-mail:


Neural tube defects are a common, complex disorder with genetic and environmental components to risk. We investigated the previously reported interaction between homozygosity for the thermolabile variant at the methylenetetrahydrofolate reductase and heterozygosity for the 844ins68 allele at the cystathionine β-synthase loci in cases with lumbosacral myelomeningocele and their parents. Using control allele frequencies from our sample pooled with those published in the literature, we confirm a marginally significant interaction at these two loci. This finding suggests that additional, larger studies are warranted to investigate this possible interaction in more detail.

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