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

Neural tube defects are a common, complex disorder with genetic and environ mental components to risk. We investigated the previously reported interact ion between homozygosity for the thermolabile variant at the methylenetetra hydrofolate reductase and heterozygosity for the 844ins68 allele at the cys tathionine beta-synthase loci in cases with lumbosacral myelomeningocele an d their parents. Using control allele frequencies from our sample pooled wi th those published in the literature, we confirm a marginally significant i nteraction at these two loci. This finding suggests that additional, larger studies are warranted to investigate this possible interaction in more det ail.