A number of studies have demonstrated that the common polymorphism 677C→T in the gene encoding 5, 10-methylenetetrahydrofolate reductase (MTHFR) leads to a thermolabile variant with decreased enzyme activity and to mildly elevated plasma homocysteine. 677TT homozygosity was shown to be more frequent
Interaction of folate and homocysteine pathway genotypes evaluated in susceptibility to neural tube defects (NTD) in a German population
✍ Scribed by B. Richter; K. Stegmann; B. Röper; I. Böddeker; E. T. K. M. Ngo; M. C. Koch
- Publisher
- Nature Publishing Group
- Year
- 2001
- Tongue
- English
- Weight
- 72 KB
- Volume
- 46
- Category
- Article
- ISSN
- 1435-232X
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Neural tube defects (NTDs) are a common birth defect, seen in approximately 1/1,000 births in the United States. NTDs are considered a complex trait where several genes, interacting with environmental factors, create the phenotype. Using a Midwestern NTD population consisting of probands, parents, a
## Abstract In this paper, we trace the history of current research into the genetic and biochemical mechanisms that underlie folate‐preventable neural tube defects (NTDs). The inspired suggestion by Smithells that common vitamins might prevent NTDs ignited a decade of biochemical investigations—fi