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

Authors: Speer, MC¹; Nye, J²; McLone, D²; Worley, G¹; Melvin, EC¹; Viles, KD¹; Franklin, A¹; Drake, C¹; Mackey, J¹; George, TM¹

Source: Clinical Genetics, Volume 56, Number 2, August 1999 , pp. 142-144(3)

Publisher: Blackwell Publishing

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Abstract:

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.

Keywords: cystathionine beta-synthase; methylenetetrahydrofolate reductase; neural tube defects

Document Type: Research article

DOI: 10.1034/j.1399-0004.1999.560208.x

Affiliations: 1: Duke University Medical Center, Durham, NC, 2: Northwestern University Medical School, Chicago, IL

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