title: Possible interaction of genotypes at cystathionine beta-synthase and methylenetetrahydrofolate reductase (MTHFR) in neural tube defects. NTD Collaborative Group.
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 beta-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.
authors.affiliation: Duke University Medical Center, Durham, NC 27710, USA.
authors.forename: M C
authors.initials: MC
authors.lastname: Speer
authors.forename: J
authors.initials: J
authors.lastname: Nye
authors.forename: D
authors.initials: D
authors.lastname: McLone
authors.forename: G
authors.initials: G
authors.lastname: Worley
authors.forename: E C
authors.initials: EC
authors.lastname: Melvin
authors.forename: K D
authors.initials: KD
authors.lastname: Viles
authors.forename: A
authors.initials: A
authors.lastname: Franklin
authors.forename: C
authors.initials: C
authors.lastname: Drake
authors.forename: J
authors.initials: J
authors.lastname: Mackey
authors.forename: T M
authors.initials: TM
authors.lastname: George
mesh_terms: D000483:Alleles; D016022:Case-Control Studies; D003541:Cystathionine beta-Synthase / Q000235:genetics*; D005260:Female; D005838:Genotype; D006720:Homozygote; D006801:Humans; D008297:Male; D008591:Meningomyelocele / Q000235:genetics; D042965:Methylenetetrahydrofolate Reductase (NADPH2); D009436:Neural Tube Defects / Q000235:genetics*; D016017:Odds Ratio; D000587:Oxidoreductases Acting on CH-NH Group Donors / Q000235:genetics*; D011110:Polymorphism, Genetic
chemical_list: D000587:Oxidoreductases Acting on CH-NH Group Donors; D042965:Methylenetetrahydrofolate Reductase (NADPH2); D003541:Cystathionine beta-Synthase