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

Marcy C. Speer, J. Nye, D. McLone, G. Worley, E. C. Melvin, K. D. Viles, A. Franklin, C. Drake, J. Mackey, T. M. George, David S. Enterline, Herbert E. Fuchs, Robert D. Fitch, Jeffery M Vance, Margaret A Pericak-Vance, W. Jerry Oakes, Colleen McLaughlin, Cindy Powell, Arthur S. Aylsworth, Marion L. WalkerPaula Peterson, Timothy Brei, Connie Buran, Bonnie Ohm, Bermans J. Iskandar

Research output: Contribution to journalArticle

36 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)142-144
Number of pages3
JournalClinical Genetics
Volume56
Issue number2
DOIs
StatePublished - Sep 24 1999
Externally publishedYes

Fingerprint

Cystathionine
Methylenetetrahydrofolate Reductase (NADPH2)
Meningomyelocele
Inborn Genetic Diseases
Neural Tube Defects
Gene Frequency
Alleles
Genotype

Keywords

  • Cystathionine beta-synthase
  • Methylenetetrahydrofolate reductase
  • Neural tube detects

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Possible interaction of genotypes at cystathionine β-synthase and methylenetetrahydrofolate reductase (MTHFR) in neural tube defects. / Speer, Marcy C.; Nye, J.; McLone, D.; Worley, G.; Melvin, E. C.; Viles, K. D.; Franklin, A.; Drake, C.; Mackey, J.; George, T. M.; Enterline, David S.; Fuchs, Herbert E.; Fitch, Robert D.; Vance, Jeffery M; Pericak-Vance, Margaret A; Oakes, W. Jerry; McLaughlin, Colleen; Powell, Cindy; Aylsworth, Arthur S.; Walker, Marion L.; Peterson, Paula; Brei, Timothy; Buran, Connie; Ohm, Bonnie; Iskandar, Bermans J.

In: Clinical Genetics, Vol. 56, No. 2, 24.09.1999, p. 142-144.

Research output: Contribution to journalArticle

Speer, MC, Nye, J, McLone, D, Worley, G, Melvin, EC, Viles, KD, Franklin, A, Drake, C, Mackey, J, George, TM, Enterline, DS, Fuchs, HE, Fitch, RD, Vance, JM, Pericak-Vance, MA, Oakes, WJ, McLaughlin, C, Powell, C, Aylsworth, AS, Walker, ML, Peterson, P, Brei, T, Buran, C, Ohm, B & Iskandar, BJ 1999, 'Possible interaction of genotypes at cystathionine β-synthase and methylenetetrahydrofolate reductase (MTHFR) in neural tube defects', Clinical Genetics, vol. 56, no. 2, pp. 142-144. https://doi.org/10.1034/j.1399-0004.1999.560208.x
Speer, Marcy C. ; Nye, J. ; McLone, D. ; Worley, G. ; Melvin, E. C. ; Viles, K. D. ; Franklin, A. ; Drake, C. ; Mackey, J. ; George, T. M. ; Enterline, David S. ; Fuchs, Herbert E. ; Fitch, Robert D. ; Vance, Jeffery M ; Pericak-Vance, Margaret A ; Oakes, W. Jerry ; McLaughlin, Colleen ; Powell, Cindy ; Aylsworth, Arthur S. ; Walker, Marion L. ; Peterson, Paula ; Brei, Timothy ; Buran, Connie ; Ohm, Bonnie ; Iskandar, Bermans J. / Possible interaction of genotypes at cystathionine β-synthase and methylenetetrahydrofolate reductase (MTHFR) in neural tube defects. In: Clinical Genetics. 1999 ; Vol. 56, No. 2. pp. 142-144.
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