title: The thermolabile variant of methylenetetrahydrofolate reductase (MTHFR) is not a major risk factor for neural tube defect in American Caucasians. The NTD Collaborative Group.
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 Caucasian 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.
authors.affiliation: Department of Medicine, Duke University Medical Center, Durham, NC 27710, USA. marcy@linkage.mc.duke.edu
authors.forename: M C
authors.initials: MC
authors.lastname: Speer
authors.forename: G
authors.initials: G
authors.lastname: Worley
authors.forename: J F
authors.initials: JF
authors.lastname: Mackey
authors.forename: E
authors.initials: E
authors.lastname: Melvin
authors.forename: W J
authors.initials: WJ
authors.lastname: Oakes
authors.forename: T M
authors.initials: TM
authors.lastname: George
mesh_terms: D000483:Alleles; D016022:Case-Control Studies; D004795:Enzyme Stability; D005260:Female; D005787:Gene Frequency; D014644:Genetic Variation; D005838:Genotype; D006801:Humans; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2); D009436:Neural Tube Defects / Q000201:enzymology / Q000235:genetics*; D000587:Oxidoreductases Acting on CH-NH Group Donors / Q000235:genetics* / Q000378:metabolism; D012307:Risk Factors; D013696:Temperature; D044465:White People / Q000235:genetics*
chemical_list: D000587:Oxidoreductases Acting on CH-NH Group Donors; D042965:Methylenetetrahydrofolate Reductase (NADPH2)