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Possible interaction of genotypes at cystathionine β-synthase and methylenetetrahydrofolate reductase (MTHFR) in neural tube defects
MC Speer a , J Nye b , D McLone b , G Worley a , EC Melvin a , KD Viles a , A Franklin a , C Drake a , J Mackey a and TM George a NTD Collaborative Group 1
  a Duke University Medical Center, Durham, NC,   b Northwestern University Medical School, Chicago, IL
Corresponding author: Marcy C. Speer, Ph.D., Duke University Medical Center, Box 3445, Durham 27710, NC. Tel: +1 919 684 2702; fax +1 919 684 2275; e-mail: marcy@chg.mc.duke.edu
Copyright Munksgaard 1999
KEYWORDS
cystathionine beta-synthase • methylenetetrahydrofolate reductase • neural tube defects

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.


Received 8 February 1999
Accepted 23 April 1999

DIGITAL OBJECT IDENTIFIER (DOI)
10.1034/j.1399-0004.1999.560208.x About DOI

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