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

Publication ,  Journal Article
Speer, MC; Nye, J; McLone, D; Worley, G; Melvin, EC; Viles, KD; Franklin, A; Drake, C; Mackey, J; George, TM
Published in: Clin Genet
August 1999

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.

Duke Scholars

Published In

Clin Genet

DOI

ISSN

0009-9163

Publication Date

August 1999

Volume

56

Issue

2

Start / End Page

142 / 144

Location

Denmark

Related Subject Headings

  • Polymorphism, Genetic
  • Oxidoreductases Acting on CH-NH Group Donors
  • Odds Ratio
  • Neural Tube Defects
  • Methylenetetrahydrofolate Reductase (NADPH2)
  • Meningomyelocele
  • Male
  • Humans
  • Homozygote
  • Genotype
 

Citation

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MLA
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Speer, M. C., Nye, J., McLone, D., Worley, G., Melvin, E. C., Viles, K. D., … George, T. M. (1999). Possible interaction of genotypes at cystathionine beta-synthase and methylenetetrahydrofolate reductase (MTHFR) in neural tube defects. NTD Collaborative Group. Clin Genet, 56(2), 142–144. https://doi.org/10.1034/j.1399-0004.1999.560208.x
Speer, M. C., J. Nye, D. McLone, G. Worley, E. C. Melvin, K. D. Viles, A. Franklin, C. Drake, J. Mackey, and T. M. George. “Possible interaction of genotypes at cystathionine beta-synthase and methylenetetrahydrofolate reductase (MTHFR) in neural tube defects. NTD Collaborative Group.Clin Genet 56, no. 2 (August 1999): 142–44. https://doi.org/10.1034/j.1399-0004.1999.560208.x.
Speer, M. C., et al. “Possible interaction of genotypes at cystathionine beta-synthase and methylenetetrahydrofolate reductase (MTHFR) in neural tube defects. NTD Collaborative Group.Clin Genet, vol. 56, no. 2, Aug. 1999, pp. 142–44. Pubmed, doi:10.1034/j.1399-0004.1999.560208.x.
Speer MC, Nye J, McLone D, Worley G, Melvin EC, Viles KD, Franklin A, Drake C, Mackey J, George TM. Possible interaction of genotypes at cystathionine beta-synthase and methylenetetrahydrofolate reductase (MTHFR) in neural tube defects. NTD Collaborative Group. Clin Genet. 1999 Aug;56(2):142–144.
Journal cover image

Published In

Clin Genet

DOI

ISSN

0009-9163

Publication Date

August 1999

Volume

56

Issue

2

Start / End Page

142 / 144

Location

Denmark

Related Subject Headings

  • Polymorphism, Genetic
  • Oxidoreductases Acting on CH-NH Group Donors
  • Odds Ratio
  • Neural Tube Defects
  • Methylenetetrahydrofolate Reductase (NADPH2)
  • Meningomyelocele
  • Male
  • Humans
  • Homozygote
  • Genotype